Journal articles: 'Breast – Cancer – Genetic aspects'

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Steel, M., A. Thompson, and J. Clayton. "Genetic aspects of breast cancer." British Medical Bulletin 47, no. 2 (1991): 504–18. http://dx.doi.org/10.1093/oxfordjournals.bmb.a072488.

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Krasteva, M., Sv Angelova, and Zl Gospodinova. "Molecular-Genetic Aspects of Breast Cancer." Acta Medica Bulgarica 41, no. 2 (December 1, 2014): 67–79. http://dx.doi.org/10.1515/amb-2014-0024.

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Summary Breast cancer is the most frequent malignancy among women. Advances in breast cancer knowledge have deciphered the involvement of a number of tumor suppressor genes and proto-oncogenes in disease pathogenesis. These genes are part of the complex biochemical pathways, which enable cell cycle control and maintenance of genome integrity. Their function may be disrupted as a result of alterations in gene sequence or misregulation of gene expression including alterations in DNA methylation pattern. The present review summarizes the main findings on major breast cancer related genes BRCA1/2, p53, ATM, CHEK2, HER2, PIK3CA and their tumorigenic inactivation/activation. The potential clinical importance of these genes with respect to patients’ prognosis and therapy are also discussed. The possible implication of other putative breast cancer related genes is also outlined. The first elaborate data on the genetic and epigenetic status of the above mentioned genes concerning Bulgarian patients with the sporadic form of the disease are presented. The studies indicate for a characteristic mutational spectrum in some of the genes for the Bulgarian patients and specific correlation between the status of different genes and clinicopathological characteristics.

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Berghe, H. Van Den. "Some Genetic Aspects of Breast Cancer." Acta Clinica Belgica 48, sup15 (January 1993): 17–18. http://dx.doi.org/10.1080/17843286.1993.11718347.

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Surbone, Antonella. "The ethical challenge of genetic testing for breast cancer." Medicina e Morale 48, no. 3 (June 30, 1999): 469–84. http://dx.doi.org/10.4081/mem.1999.799.

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The scientific importance of our recently acquired ability to test for heredity predisposition to breast and ovarian cancers is paralleled only by its social and ethical relevance. Dilemmas are common in all genetic testing, but they assume particular nuances in the setting of breast cancer. Due to its devastating nature and to its increasing incidence, breast cancer is a central issue in women’s health. Breast cancer patients and women in general are often deeply involved in understanding the disease process and the treatment options, as they are in discussing the psychological, social and moral ramifications. This paper is a reflection upon some qualitative aspects of the debate that surrounds genetic testing for breast and ovarian cancer, as they have emerged in my encounters with breast cancer patients prior to their decision to consider genetic testing. The five recurrent themes identified in those conversations may or may not be representative of other practice situations, but they illustrate some fundamental philosophical, ethical and moral questions which exist at the core of our human essence and of our moral agency, and which point to the unavoidable intertwinement of medicine, culture, normativity and philosophy, vis-à-vis the many questions raised by genetics. The Author has intentionally refrained from questionnaires, which could betray the complexity of our thinking process, and from the vignettes, as they could betray confidentiality. The paper concludes that the correct answers to the dilemmas posed by genetic testing for breast cancer predisposition can only arise from a blend of medical, social and philosophical analysis.

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Li, Shuai, Tuong L. Nguyen, Tu Nguyen-Dumont, James G. Dowty, Gillian S. Dite, Zhoufeng Ye, Ho N. Trinh, et al. "Genetic Aspects of Mammographic Density Measures Associated with Breast Cancer Risk." Cancers 14, no. 11 (June 2, 2022): 2767. http://dx.doi.org/10.3390/cancers14112767.

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Cumulus, Altocumulus, and Cirrocumulus are measures of mammographic density defined at increasing pixel brightness thresholds, which, when converted to mammogram risk scores (MRSs), predict breast cancer risk. Twin and family studies suggest substantial variance in the MRSs could be explained by genetic factors. For 2559 women aged 30 to 80 years (mean 54 years), we measured the MRSs from digitized film mammograms and estimated the associations of the MRSs with a 313-SNP breast cancer polygenic risk score (PRS) and 202 individual SNPs associated with breast cancer risk. The PRS was weakly positively correlated (correlation coefficients ranged 0.05–0.08; all p < 0.04) with all the MRSs except the Cumulus-white MRS based on the “white but not bright area” (correlation coefficient = 0.04; p = 0.06). After adjusting for its association with the Altocumulus MRS, the PRS was not associated with the Cumulus MRS. There were MRS associations (Bonferroni-adjusted p < 0.04) with one SNP in the ATXN1 gene and nominally with some ESR1 SNPs. Less than 1% of the variance of the MRSs is explained by the genetic markers currently known to be associated with breast cancer risk. Discovering the genetic determinants of the bright, not white, regions of the mammogram could reveal substantial new genetic causes of breast cancer.

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Shatova, Yu S., E. A. Chebotareva, E. Yu Zlatnik, I. A. Novikova, D. I. Vodolazhskiy, and E. A. Dzhenkova. "Some clinical morphological and molecular genetic aspects in patients with clinical signs of hereditary breast cancer." Kazan medical journal 99, no. 2 (April 15, 2018): 224–29. http://dx.doi.org/10.17816/kmj2018-224.

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Aim. To study the clinical morphological and molecular genetic characteristics of clinically hereditary breast cancer with and without verified mutation of BRCA1, BRCA2 compared to sporadic breast cancer. Methods. The study included 191 female patients with verified breast cancer stage I-IIA and clinical signs of hereditary breast cancer. In order to identify mutations in genes ВRCA1/2 molecular genetic analysis of deoxyribonucleic acid from peripheral blood leukocytes was performed. Results. The total frequency of mutations in the genes BRCA1 and ВRCA2 amounted 14.1% of the total number of examined patients. The most common mutation in clinically hereditary breast cancer among residents of the Rostov Region was 5382insC in BRCA1 gene, which corresponds to the nationwide data. Also common features of hereditary breast cancer compared to sporadic breast cancer were identified: young age at the time of disease manifestation, high prevalence of triple-negative cancer, history of infertility, increased level of p53 and androgen receptor expression, decreased level of aneuploid cell and proliferation index in the tumor. Conclusion. In a number of clinical morphological and molecular genetic parameters, clinically hereditary breast cancer differs from sporadic breast cancer. These indicators in the future can be used as criteria for selection of patients with clinically hereditary breast cancer without confirmed BRCA1/2 mutation by standard panels for in-depth genetic testing.

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Pöschl, Gudrun, Felix Stickel, Xiang D. Wang, and Helmut K. Seitz. "Alcohol and cancer: genetic and nutritional aspects." Proceedings of the Nutrition Society 63, no. 1 (February 2004): 65–71. http://dx.doi.org/10.1079/pns2003323.

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Chronic alcohol consumption is a major risk factor for cancer of upper aero-digestive tract (oro-pharynx, hypopharynx, larynx and oesophagus), the liver, the colo-rectum and the breast. Evidence has accumulated that acetaldehyde is predominantly responsible for alcohol-associated carcinogenesis. Acetaldehyde is carcinogenic and mutagenic, binds to DNA and protein, destroys the folate molecule and results in secondary cellular hyper-regeneration. Acetaldehyde is produced by mucosal and cellular alcohol dehydrogenase, cytochrome P450 2E1 and through bacterial oxidation. Its generation and/or its metabolism is modulated as a result of polymorphisms or mutations of the genes responsible for these enzymes. Acetaldehyde can also be produced by oral bacteria. Smoking, which changes the oral bacterial flora, also increases salivary acetaldehyde. Cigarette smoke and some alcoholic beverages, such as Calvados, contain acetaldehyde. In addition, chronic alcohol consumption induces cytochrome P450 2E1 enxyme activity in mucosal cells, resulting in an increased generation of reactive oxygen species and in an increased activation of various dietary and environmental carcinogens. Deficiencies of riboflavin, Zn, folate and possibly retinoic acid may further enhance alcohol-associated carcinogenesis. Finally, methyl deficiency as a result of multiple alcohol-induced changes leads to DNA hypomethylation. A depletion of lipotropes, including methionine, choline, betaine and S-adenosylmethionine, as well as folate, results in the hypomethylation of oncogenes and may lead to DNA strand breaks, all of which are associated with increased carcinogenesis.

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Press, Nancy, Jennifer R. Fishman, and Barbara A. Koenig. "Collective Fear, Individualized Risk: the social and cultural context of genetic testing forbreast cancer." Nursing Ethics 7, no. 3 (May 2000): 237–49. http://dx.doi.org/10.1177/096973300000700306.

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The purpose of this article is to provide a critical examination of two aspects of culture and biomedicine that have helped to shape the meaning and practice of genetic testing for breast cancer. These are: (1) the cultural construction of fear of breast cancer, which has been fuelled in part by (2) the predominance of a ‘risk’ paradigm in contemporary biomedicine. The increasing elaboration and delineation of risk factors and risk numbers are in part intended to help women to contend with their fear of breast cancer. However, because there is no known cure or foolproof prevention for breast cancer, risk designations bring with them recommendations for vigilant surveillance strategies and screening guidelines. We argue that these in effect exacerbate women’s fears of breast cancer itself. The volatile combination of discourses of fear, risk and surveillance have significant ethical and social consequences for women’s lives and well-being. Genetic testing decisions are made within this context; if nurses understand this context they can play an important role in helping women to cope with the anxiety and fear of breast cancer risk.

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Miricescu, Daniela, Alexandra Totan, Iulia-Ioana Stanescu-Spinu, Silviu Constantin Badoiu, Constantin Stefani, and Maria Greabu. "PI3K/AKT/mTOR Signaling Pathway in Breast Cancer: From Molecular Landscape to Clinical Aspects." International Journal of Molecular Sciences 22, no. 1 (December 26, 2020): 173. http://dx.doi.org/10.3390/ijms22010173.

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Breast cancer is a serious health problem worldwide, representing the second cause of death through malignancies among women in developed countries. Population, endogenous and exogenous hormones, and physiological, genetic and breast-related factors are involved in breast cancer pathogenesis. The phosphatidylinositol 3-kinase (PI3K)/protein kinase B (AKT)/mammalian target of rapamycin (mTOR) is a signaling pathway involved in cell proliferation, survival, invasion, migration, apoptosis, glucose metabolism and DNA repair. In breast tumors, PIK3CA somatic mutations have been reported, located in exon 9 and exon 20. Up to 40% of PIK3CA mutations are estrogen receptor (ER) positive and human epidermal growth factor receptor 2 (HER2) -negative in primary and metastatic breast cancer. HER2 is overexpressed in 20–30% of breast cancers. HER1, HER2, HER3 and HER4 are membrane receptor tyrosine kinases involved in HER signaling to which various ligands can be attached, leading to PI3K/AKT activation. Currently, clinical studies evaluate inhibitors of the PI3K/AKT/mTOR axis. The main purpose of this review is to present general aspects of breast cancer, the components of the AKT signaling pathway, the factors that activate this protein kinase B, PI3K/AKT-breast cancer mutations, PI3K/AKT/mTOR-inhibitors, and the relationship between everolimus, temsirolimus and endocrine therapy.

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GOELEN, G., A. RIGO, B. NEYNS, W. BETZ, and J. DE GRÈVE. "Ethical Aspects of Genetic Counseling in Familial Breast and Ovarian Cancer." Annals of the New York Academy of Sciences 833, no. 1 Cancer (December 1997): 170–72. http://dx.doi.org/10.1111/j.1749-6632.1997.tb48604.x.

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Christinat, Alexandre, and Olivia Pagani. "Practical aspects of genetic counseling in breast cancer: Lights and shadows." Breast 22, no. 4 (August 2013): 375–82. http://dx.doi.org/10.1016/j.breast.2013.04.006.

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Ursu, Radu, Radu Alexandru Truica, Alexandra Cojocaru, Diana Prepelita, Lucian Pop, Viorica Radoi, Nicolae Bacalbasa, and Irina Balescu. "Genetic factors involved in ovarian cancer." Romanian Medical Journal 69, S3 (June 20, 2022): 13–14. http://dx.doi.org/10.37897/rmj.2022.s3.3.

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Ovarian cancer is the most frequent type of gynecologic malignancy and is currently on the fifth place among different cancers worldwide. According to the estimations, ovarian cancer accounts for 1.3% of all new cancer cases. Ovarian cancer is considered a heterogeneous class of malignancies with a poor prognosis due to late diagnose and low treatment response. There are few types of ovarian cancer: epithelial ovarian cancer, germline cell ovarian cancer and stromal cell ovarian cancer. Epithelial ovarian cancers represent more than 90% of ovarian malignancies, and comprise high-grade serous carcinoma (HGSOC), low-grade serous carcinoma (LGSOC), endometrioid carcinoma, mucinous carcinoma, and clear cell carcinoma. Of these, HGSOC is the most frequent histological subtype. The diagnosis of most of OC cases, at an advanced disease stage is one of the reasons for high fatality rate and carries poor prognosis with current therapies. Several aspects can increase the risk of developing ovarian cancer, including genetic factors, such as age, postmenopausal hormonal therapy use, infertility and nulliparity. Among the genetic factors, most commonly we encounter BRCA1 and BRCA2, at approximately 17% of patients. Also these mutation rise the risk for another cancers like breast cancer, pancreatic cancer, prostatic cancer and melanoma. BRCA1 and 2 are genes involved in DNA repair and maintenance. Other genes that have a similar function are RAD511C, RAD51D, BRIP1, PALB2, CHEK2, MRE11A, RAD50, ATM and TP53.

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Nguyen, Tuong L., Shuai Li, James G. Dowty, Gillian S. Dite, Zhoufeng Ye, Tu Nguyen-Dumont, Ho N. Trinh, et al. "Familial Aspects of Mammographic Density Measures Associated with Breast Cancer Risk." Cancers 14, no. 6 (March 14, 2022): 1483. http://dx.doi.org/10.3390/cancers14061483.

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Cumulus, Cumulus-percent, Altocumulus, Cirrocumulus, and Cumulus-white are mammogram risk scores (MRSs) for breast cancer based on mammographic density defined in effect by different levels of pixel brightness and adjusted for age and body mass index. We measured these MRS from digitized film mammograms for 593 monozygotic (MZ) and 326 dizygotic (DZ) female twin pairs and 1592 of their sisters. We estimated the correlations in relatives (r) and the proportion of variance due to genetic factors (heritability) using the software FISHER and predicted the familial risk ratio (FRR) associated with each MRS. The ρ estimates ranged from: 0.41 to 0.60 (standard error [SE] 0.02) for MZ pairs, 0.16 to 0.26 (SE 0.05) for DZ pairs, and 0.19 to 0.29 (SE 0.02) for sister pairs (including pairs of a twin and her non-twin sister), respectively. Heritability estimates were 39% to 69% under the classic twin model and 36% to 56% when allowing for shared non-genetic factors specific to MZ pairs. The FRRs were 1.08 to 1.17. These MRSs are substantially familial, due mostly to genetic factors that explain one-quarter to one-half as much of the familial aggregation of breast cancer that is explained by the current best polygenic risk score.

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Neves, Nedy Maria Branco Cerqueira, Camila Silva Boaventura, Maria Alice Freitas Costa, and Almir Galvão Vieira Bitencourt. "Ethical implications of genetic testing of susceptibility to breast cancer." Revista Bioética 30, no. 3 (September 2022): 636–43. http://dx.doi.org/10.1590/1983-80422022303557en.

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Abstract Breast cancer is a public health problem because it is the malignant neoplasm with the highest incidence in women worldwide. The hereditary form corresponds to about 5% to 10% of all cases and is directly related to the inheritance of genetic mutations. The main ones occur in the BRCA1 and BRCA2 tumor suppressor genes. The identification of these mutations is extremely important because of the high risk of breast cancer development in this population, allowing differentiated screening strategies and the adoption of risk reduction measures. However, reflections on the ethical aspects related to the indiscriminate use of genetic testing are important and necessary. The objective of this study was to evaluate the knowledge and opinion of physicians of an oncology reference center on the indication of genetic tests for susceptibility to breast cancer given the ethical dilemmas to which they are submitted in medical practice.

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Tercyak, Kenneth P., Tiffani A. DeMarco, Bryn D. Mars, and Beth N. Peshkin. "Women's satisfaction with genetic counseling for hereditary breast-ovarian cancer: Psychological aspects." American Journal of Medical Genetics 131A, no. 1 (November 15, 2004): 36–41. http://dx.doi.org/10.1002/ajmg.a.30317.

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Martínez-Galan, Joaquina, Sandra Rios, Juan Ramon Delgado, Blanca Torres-Torres, Jesus Lopez-Peñalver, and M. Isabel Núñez. "Epigenetic aspects of triple-negative in patients with breast cancer." Journal of Clinical Oncology 30, no. 15_suppl (May 20, 2012): 1041. http://dx.doi.org/10.1200/jco.2012.30.15_suppl.1041.

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1041 Background: Identification of gene expression-based breast cancer subtypes is considered a critical means of prognostication. Genetic mutations along with epigenetic alterations contribute to gene-expression changes occurring in breast cancer. However, the reproducibility of differential DNA methylation discoveries for cancer and the relationship between DNA methylation and aberrant gene expression have not been systematically analysed. The present study was undertaken to dissect the breast cancer methylome and to deliver specific epigenotypes associated with particular breast cancer subtypes. Methods: By using Real Time QMSPCR SYBR green we analyzed DNA methylation in regulatory regions of 107 pts with breast cancer and analyzed association with prognostics factor in triple negative breast cancer and methylation promoter ESR1, APC, E-Cadherin, Rar B and 14-3-3 sigma. Results: We identified novel subtype-specific epigenotypes that clearly demonstrate the differences in the methylation profiles of basal-like and human epidermal growth factor 2 (HER2)-overexpressing tumors. Of the cases, 37pts (40%) were Luminal A (LA), 32pts (33%) Luminal B (LB), 14pts (15%) Triple-negative (TN), and 9pts (10%) HER2+. DNA hypermethylation was highly inversely correlated with the down-regulation of gene expression. Methylation of this panel of promoter was found more frequently in triple negative and HER2 phenotype. ESR1 was preferably associated with TN(80%) and HER2+(60%) subtype. With a median follow up of 6 years, we found worse overall survival (OS) with more frequent ESR1 methylation gene(p>0.05), Luminal A;ESR1 Methylation OS at 5 years 81% vs 93% when was ESR1 Unmethylation. Luminal B;ESR1 Methylation 86% SG at 5 years vs 92% in Unmethylation ESR1. Triple negative;ESR1 Methylation SG at 5 years 75% vs 80% in unmethylation ESR1. HER2;ESR1 Methylation SG at 5 years was 66.7% vs 75% in unmethylation ESR1. Conclusions: Our results provide evidence that well-defined DNA methylation profiles enable breast cancer subtype prediction and support the utilization of this biomarker for prognostication and therapeutic stratification of patients with breast cancer.

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Romics, László, Judit Kocsis, Katalin Ormándi, and Béla Ákos Molnár. "Az örökletes emlőrák szűrésének, megelőzésének és kezelésének új nemzetközi irányvonalai – hazai vonatkozásokkal." Orvosi Hetilap 157, no. 28 (July 2016): 1117–25. http://dx.doi.org/10.1556/650.2016.30473.

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Introduction: Screening, prevention and treatment of familial breast cancer require a multidisciplinary approach. New guidelines were published in the United Kingdom for the management of familial breast cancer. Aim: The authors summarise these new guidelines and analyse the relevant practice in Hungary. Method: Relevant guidelines of the National Institute for Health and Care Excellence and Familial Breast Cancer Report (NHS Scotland) are described. Results: New guidelines will increase the number of genetic tests as well as genetic counselling. An increase in the number of breast magnetic resonance imaging is expected, too. Chemoprevention can be offered for individuals with medium risk and above. Promising trials are underway with platinum based chemotherapy and polyADP-ribose polimerase inhibitors for the systemic treatment of familial breast cancer. The increase in the number of genetic tests, counselling, and breast magnetic resonance imaging may have a significant impact on health care budget. Conclusions: These guidelines will change some aspects of the current management of familial breast cancer. Orv. Hetil., 2016, 157(28), 1117–1125.

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Rizzolo, P., V. Silvestri, S. Tommasi, R. Pinto, K. Danza, M. Falchetti, M. Gulino, P. Frati, and L. Ottini. "Male breast cancer: genetics, epigenetics, and ethical aspects." Annals of Oncology 24 (November 2013): viii75—viii82. http://dx.doi.org/10.1093/annonc/mdt316.

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Sukumaran, Shobini, and Kunal Chawathey. "Familial breast cancer." InnovAiT: Education and inspiration for general practice 10, no. 2 (December 27, 2016): 82–88. http://dx.doi.org/10.1177/1755738016685893.

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Breast cancer is the most common malignancy in women; it affects about one in eight women. Familial breast cancer typically presents earlier than sporadic breast cancer, and is more often bilateral than in sporadic cases. Ovarian cancer is more common in familial breast cancer. A large number of studies have confirmed an increased breast cancer risk in patients with a significant family history of breast cancer. The breast cancer genotype has an autosomal dominant pattern of transmission. This article considers familial breast cancer and various aspects of breast cancer management in primary care, including the genetics of familial breast cancer, and guidelines on referral to secondary care.

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Bougie, O., and J. I. Weberpals. "Clinical Considerations ofBRCA1- andBRCA2-Mutation Carriers: A Review." International Journal of Surgical Oncology 2011 (2011): 1–11. http://dx.doi.org/10.1155/2011/374012.

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Individuals who carry an inherited mutation in the breast cancer 1 (BRCA1) andBRCA2genes have a significant risk of developing breast and ovarian cancer over the course of their lifetime. As a result, there are important considerations for the clinician in the counseling, followup and management of mutation carriers. This review outlines salient aspects in the approach to patients at high risk of developing breast and ovarian cancer, including criteria for genetic testing, screening guidelines, surgical prophylaxis, and chemoprevention.

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Sessa, Gaetana, Åsa Ehlén, Catharina von Nicolai, and Aura Carreira. "Missense Variants of Uncertain Significance: A Powerful Genetic Tool for Function Discovery with Clinical Implications." Cancers 13, no. 15 (July 23, 2021): 3719. http://dx.doi.org/10.3390/cancers13153719.

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The breast cancer susceptibility gene BRCA2 encodes a multifunctional protein required for the accurate repair of DNA double-strand breaks and replicative DNA lesions. In addition, BRCA2 exhibits emerging important roles in mitosis. As a result, mutations in BRCA2 may affect chromosomal integrity in multiple ways. However, many of the BRCA2 mutations found in breast cancer patients and their families are single amino acid substitutions, sometimes unique, and their relevance in cancer risk remains difficult to assess. In this review, we focus on three recent reports that investigated variants of uncertain significance (VUS) located in the N-terminal region of BRCA2. In this framework, we make the case for how the functional evaluation of VUS can be a powerful genetic tool not only for revealing novel aspects of BRCA2 function but also for re-evaluating cancer risk. We argue that other functions beyond homologous recombination deficiency or “BRCAness” may influence cancer risk. We hope our discussion will help the reader appreciate the potential of these functional studies in the prevention and diagnostics of inherited breast and ovarian cancer. Moreover, these novel aspects in BRCA2 function might help find new therapeutic strategies.

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Durá Ferrandis, Estrella, Yolanda Andreu, and Maria José Galdón. "The impact of information given to patients’ families: Breast cancer risk notification." Análise Psicológica 20, no. 1 (December 6, 2012): 27–34. http://dx.doi.org/10.14417/ap.275.

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A family history of breast cancer is a clear risk for developing the disease. Therefore, when a woman is diagnosed with breast cancer all her female first degree relatives become population at risk. This involve a number of important aspects to be taken into account by psychooncology professionals. (a) First, in addition to the stress associated with the diagnosis and treatment of breast cancer in a close relative, first degree relatives of breast cancer patients have the added stress of learning that they are at risk of this disease. (b) Second, these women become the main target of secondary breast cancer prevention strategies. However, various reports show that a considerable percentage of these women do not follow the recommended screening methods. For this reason, it is necessary to study the possible contribution of psychosocial factors, specially health beliefs, in the practice of preventive behavior aimed at preventing breast cancer in this population, and to design strategies to promote preventive practices. (c) Most of the research on health beliefs among women at risk for breat cancer has focused on risk perception.This research as found that some women with a family history of breast cancer have significantly overestimated their risk, while other shave underestimated their risk. The need to provide risk counselling schemes for these women is therefore proposed, in order to estimate and advise them of their real risk. (d) Finally, these women may request genetic testing to determine whether they carry genetic mutations (BRCA1, BRCA2, or others) that cause some types of breast cancer. However, it must be remembered that, although many first degree relatives will have heard of and seek «the cancer gene test», currently testing is appropiate and available only for rare individuals. All these issues are reviewed in the present paper.

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Poursadoughian Yaran, Atiyeh, and Soyar Sari. "Assessment of Genetic Aspects of Breast Cancer in Iranian Population (a Review Study)." Multidisciplinary Cancer Investigation 1, Supplementary 1 (November 1, 2017): 0. http://dx.doi.org/10.21859/mci-supp-23.

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Decruyenaere, M., G. Evers-Kiebooms, E. Claes, L. Denayer, M. Welkenhuysen, E. Legius, and K. Demyttenaere. "Psychosocial Aspects of Familial Breast and Ovarian Cancer: Psychological Guidelines for Genetic Testing." Disease Markers 15, no. 1-3 (1999): 152–53. http://dx.doi.org/10.1155/1999/632530.

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_, _. "Genetic/Familial High-Risk Assessment: Breast and Ovarian Clinical Practice Guidelines." Journal of the National Comprehensive Cancer Network 4, no. 2 (February 2006): 156. http://dx.doi.org/10.6004/jnccn.2006.0016.

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Recent advances in molecular genetics have identified several genes associated with inherited susceptibility to cancer and have provided a means to begin identifying individuals and families with an increased risk of cancer. This rapid expansion of knowledge about cancer genetics has implications for all aspects of cancer management, including prevention, screening, and treatment. These guidelines specifically address hereditary breast/ovarian cancer syndrome (HBOC), Li-Fraumeni syndrome, and Cowden syndrome. These guidelines were developed understanding that much of our knowledge of how the rapidly emerging field of molecular genetics can be applied clinically is preliminary and that flexibility is needed when applying these guidelines to individual families. For the most recent version of the guidelines, please visit NCCN.org

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Brédart, Anne, Jean-Luc Kop, Julia Dick, Alejandra Cano, Antoine De Pauw, Amélie Anota, Joan Brunet, et al. "Psychosocial problems in women attending French, German and Spanish genetics clinics before and after targeted or multigene testing results: an observational prospective study." BMJ Open 9, no. 9 (September 2019): e029926. http://dx.doi.org/10.1136/bmjopen-2019-029926.

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Objectives and settingAdvances in multigene panel testing for cancer susceptibility has increased the complexity of counselling, requiring particular attention to counselees’ psychosocial needs. Changes in psychosocial problems before and after genetic testing were prospectively compared between genetic test results in women tested for breast or ovarian cancer genetic susceptibility in French, German and Spanish clinics.Participants and measuresAmong 752 counselees consecutively approached, 646 (86%) were assessed after the initial genetic consultation (T1), including 510 (68%) affected with breast cancer, of which 460 (61%) were assessed again after receiving the test result (T2), using questionnaires addressing genetic-specific psychosocial problems (Psychosocial Aspects of Hereditary Cancer (PAHC)-six scales). Sociodemographic and clinical data were also collected.ResultsSeventy-nine (17.2%), 19 (4.1%), 259 (56.3%), 44 (9.6%) and 59 (12.8%) women received aBRCA1/2, another high/moderate-risk pathogenic variant (PV), negative uninformative, true negative (TN) or variant of uncertain significance result (VUS), respectively. On multiple regression analyses, compared with women receiving another result, those with a VUS decreased more in psychosocial problems related to hereditary predisposition (eg,coping with the test result) (ß=−0.11, p<0.05) and familial/social issues (eg,risk communication) (ß=−0.13, p<0.05), almost independently from their problems before testing. Women with a PV presented no change in hereditary predisposition problems and, so as women with a TN result, a non-significant increase in familial/social issues. Other PAHC scales (ie, emotions, familial cancer, personal cancer and children-related issues) were not affected by genetic testing.ConclusionsIn women tested for breast or ovarian cancer genetic risk in European genetics clinics, psychosocial problems were mostly unaffected by genetic testing. Apart from women receiving a VUS result, those with another test result presented unchanged needs in counselling in particular about hereditary predisposition and familial/social issues.

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Lee, Chang Hyun. "Breast Cancer Gene (BRCA1, BRCA2)." Journal of Medicine and Life Science 1, no. 1 (December 1, 2003): 1–23. http://dx.doi.org/10.22730/jmls.2003.1.1.1.

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Most women with breast cancer do not have a familial history of the disease in a first degree relative and hereditary breast cancer caused by a mutant gene passed from parents to their children is rare; only 5-10% of breast cancers are estimated to be attributable to the inheritance of rare highly penetrant, germline mutations of genes, although this proportion is at younger ages of diagnosis. Mutations in BRCA1 and BRCA2 are responsible for most of these inherited breast cancers. Hereditary predisposition to breast cancer is responsible for autosomal-dominant transmission. Children of parents with a BRCA1 or BRCA2 mutation have a 50% chance of inheriting gene mutation. Hereditary breast cancer is characterized by early age at onset than sporadic cases, bilaterality, vertical transmission through both maternal and paternal lines, and familial association with tumors of other organs, particularly the ovary and prostate gland. Of the several hundred mutations in these genes, most lead to a frameshift resulting in missing or nonfunctioning proteins. Most of the BRCA1 an BRCA2 mutations are predicted to produce a truncated protein product, supporting the hypothesis that they are tumor suppressor genes. Progress in determining the function of BRCA1 an BRCA2 suggests that they are involved in two fundamental cellular processes, DNA damage repair and transcriptional regulation. The assessments of familial cancer risk are extremely varied, including families from different ethnic backgrounds with greater or less numbers of affective relatives at varying ages. And estimates of penetrance for BRCA1 and BRCA2 mutations range from 36% to 85% for breast cancer, and 16% to 60% for ovarian cancer. Tliree specific mutations in these genes accounted for 90% of the BRCA1 and BRCA2 variants within Ashkenazi Jewish population. For molecular correlations, BRCA1 cancers were shown to be more often estrogen receptor negative, more high grade tumors and more frequent mutations in p53 than nonhereditary cancers. The risk for breast cancer in female BRCA2 mutation earners appeal's similar to that for BRCA1 carriers, but the age of onset is shifted to an older age distribution. The growing body of data elucidating the functions of these genes suggest a gatekeeper role, characterized by interactions with other genes in the regulations of the cell cycle and DNA repair and may provide novel opportunities to develop genotype-based therapeutic approaches to treatment and prevention. Surveillance recommendations for women with germline BRCA mutations are necessary and women are encouraged to leam and practice breast self-examination beginning at age 18 and to begin annual mammogram screening at age 25. A number of women with BRCA mutations may consider undergoing surgical procedures (mastectomy and salpingooophorectomy) in attempt to reduce their risk. Nonsurgical options (tamoxifen medication) tor the prevention of hereditary breast cancer are currently limited.The choice of whether to undergo genetic testing is difficult on and should be made only after extensive consultation with a professional who is well versed in the counseling and management of families at hereditary risk. And psychological consequences of testing and the potential impact on family dynamics ai*e important considerations that must be individually addressed.The identification and location of these breast cancer genes will now permit further investigation of the precise role they play in cancer progression and will allow us to determine the percentage of total breast cancer caused by the inheritance of mutant genes. This in turn will ultimately enrich our understanding of all breast cancer, sporadic as well as hereditary, and will facilitate the identification of high-risk individuals. Most of above mentioned data are based on studies of European ancestry. It is needed to study many aspects of Korean breast cancer including age specific mutation prevalence, penetrance, molecular correlation, pathology, prognosis, surveillance and prevention options for women with BRCA mutations.In genetic studies, we need to examine the psychological and clinical impact of using gene-based diagnostic tests in families with heritable forms of breast cancer, assess public knowledge and attitudes about genetic testing for cancer risks and gather information needed to establish clinical protocols for the optimum use of these risk assessment technologies in the future.Furthermore, at least half of hereditary breast cancers are not linked to these genes. Remaining cases are not caused by another single, unidentified gene, but rather by many genes, each accounting for a small fraction of breast cancers.

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Cherdyntseva, N. V., N. V. Litviakov, E. V. Denisov, P. A. Gervas, and E. S. Cherdyntsev. "CIRCULATING TUMOR CELLS IN BREAST CANCER: FUNCTIONAL HETEROGENEITY, PATHOGENETIC AND CLINICAL ASPECTS." Experimental Oncology 39, no. 1 (March 22, 2017): 2–11. http://dx.doi.org/10.31768/2312-8852.2017.39(1):2-11.

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Each patient has a unique history of cancer ecosystem development, resulting in intratumor heterogeneity. In order to effectively kill the tumor cells by chemotherapy, dynamic monitoring of driver molecular alterations is necessary to detect the markers for acquired drug resistance and find the new therapeutic targets. To perform the therapeutic monitoring, frequent tumor biopsy is needed, but it is not always possible due to small tumor size or its regression during the therapy or tumor inaccessibility in advanced cancer patients. Liquid biopsy appears to be a promising approach to overcome this problem, providing the testing of circulating tumor cells (CTC) and/or tumor-specific circulating nucleic acids. Their genomic characteristics make it possible to assess the clonal dynamics of tumors, comparing it with the clinical course and identification of driver mutation that confer resistance to therapy. The main attention in this review is paid to CTC. The biological behavior of the tumor is determined by specific cancerpromoting molecular and genetic alterations of tumor cells, and by the peculiarities of their interactions with the microenvironment that can result in the presence of wide spectrum of circulating tumor clones with various properties and potentialities to contribute to tumor progression and response to chemotherapy and prognostic value. Indeed, data on prognostic or predictive value of CTC are rather contradictory, because there is still no standard method of CTC identification, represented by different populations manifesting various biological behavior as well as different potency to metastasis. Circulating clasters of CTC appear to have essentially greater ability to metastasize in comparison with single CTC, as well as strong association with worse prognosis and chemoresistance in breast cancer patients. The Food and Drug Administration (USA) has approved the CTC-based prognostic test for clinical application in patients with advanced breast cancer. Prospective clinical trials have demonstrated that measuring changes in CTC numbers during treatment is useful for monitoring therapy response in breast cancer patients. Molecular and genetic analysis of CTC gives the opportunity to have timely information on emergence of resistant tumor clones and may shed light on the new targets for pathogenetic antitumor therapy.

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Gasco, Milena, Isik G. Yulug, and Tim Crook. "TP53 mutations in familial breast cancer: Functional aspects." Human Mutation 21, no. 3 (February 27, 2003): 301–6. http://dx.doi.org/10.1002/humu.10173.

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Black, Lee, and Kelly A. McClellan. "Familial Communication of Research Results: A Need to Know?" Journal of Law, Medicine & Ethics 39, no. 4 (2011): 605–13. http://dx.doi.org/10.1111/j.1748-720x.2011.00627.x.

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In recent years, the research participant’s family’s need, if not right, to know their disease risk has comprised a great deal of the genetic testing discourse. This most often arises in the context of clinical genetic tests for hereditary cancers, especially colorectal and breast cancer, and other genetic disorders where the presence of a genetic mutation greatly increases the likelihood of the disease’s manifestation (such as Huntington’s Disease). However, this discussion has not led to comprehensive or cohesive guidance for health care professionals or patients. Indeed, various governmental and professional bodies run the gamut of possibilities, from no disclosure to family without the consent of the patient, to recognition that genetic risk information is important enough to the family to allow exception to traditional notions of confidentiality.

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Frolova, M. A., and M. B. Stenina. "Peculiarities of BRCA1/2 testing in patients with advanced HER2-negative breast cancer in the Russian Federation (results of a survey of Russian oncologists)." Malignant tumours 11, no. 2 (December 28, 2021): 38–44. http://dx.doi.org/10.18027/2224-5057-2021-11-2-38-44.

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Hereditary BRCA1 / 2 mutations affect the strategy of surgical treatment in early cancer and systemic treatment in advanced HER2-negative breast cancer. The article presents the results of a survey of Russian oncologists on various aspects of genetic testing for hereditary BRCA1 / 2 mutations in real-world clinical practice. Indications for testing, testing methods, and funding sources were discussed.

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Savelyeva, Marina I., Ekaterina O. Golubenko, Zhannet A. Sozaeva, Irina V. Poddubnaya, and Vera V. Korennaya. "Analysis of the complications of endocrine therapy with tamoxifen in breast cancer: clinical and pharmacogenetic aspects. Prospective pharmacogenetic cohort study." Journal of Modern Oncology 24, no. 3 (November 25, 2022): 361–67. http://dx.doi.org/10.26442/18151434.2022.3.201783.

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Background. Tamoxifen is the drug of choice in ER-positive breast cancer (BC) therapy for perimenopausal women and one of the endocrine therapy options for menopausal patients. The pharmacological effect of tamoxifen can be influenced by the activity of cytochrome P450 (CYP) enzymes and P-glycoprotein transporters (Pg), and the genes encoding them have broad polymorphism, affecting serum concentrations of active metabolites. This article presents the overall results of a prospective population-based study of the clinical significance of genetic polymorphism of tamoxifen metabolic enzymes and transporters in breast cancer patients after radical treatment receiving adjuvant endocrine therapy with tamoxifen in outpatient settings during 2018-2019. The study was approved by the Research Ethics Committee of the Russian Medical Academy of Continuing Professional Education. Aim. To analyze the clinical presentation of endocrine therapy with tamoxifen in the adjuvant regimen and to assess the association of polymorphisms of genes encoding cytochrome P450 enzymes and drug transporter proteins with adverse events in BC patients. Materials and methods. One hundred and four women with stage I-III luminal breast cancer receiving adjuvant tamoxifen were examined for the presence of CYP2D6, CYP2C, and the following CYP3A gene polymorphisms: CYP2D6*4, CYP3A5*3, CYP2C9*2, CYP2C9*3, CYP2C19*2, CYP2C19*3, as well as the ABCB1 gene polymorphic marker (C3435T) encoding the P-glycoprotein. The allelic variants were identified using the real-time polymerase chain reaction; the test was performed in the Research Center of the Russian Medical Academy of Continuing Professional Education. The study material was buccal epithelium (double sampling) taken after informed consent signing. Results. Association analysis showed the association of different genetic polymorphisms of CYP2D6, CYP3A5, CYP2C9, and ABCB1 with tamoxifen adverse drug reactions, indicating the clinical significance of these polymorphisms. Conclusion. With the implementation of genetic testing of the studied polymorphisms into the routine clinical practice of oncologists prescribing tamoxifen and gynecologists involved in the follow-up of breast cancer patients receiving endocrine therapy in the adjuvant mode, there will be an opportunity for more effective and safer pharmacotherapy.

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Preeti Tanaji Mane, Sangram Prakash Patil, Balaji Sopanrao Wakure, and Pravin Shridhar Wakte. "Breast cancer: understanding etiology, addressing molecular signaling pathways, identifying therapeutic targets and strategizing the treatment." International Journal of Research in Pharmaceutical Sciences 12, no. 3 (July 1, 2021): 1757–69. http://dx.doi.org/10.26452/ijrps.v12i3.4779.

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Breast cancer has messed the life of a greater number of women being the most common cancer affecting them worldwide. A number of risk factors contribute the breast malignancy, however, genetic drift is accountable the most. Depending on the cell origin, invasiveness and receptors involved, breast cancer is classified into various subtypes. The accurate diagnosis of breast cancer is important as it defines the prognosis and directs the type of treatment required. A number of major signaling pathways involved in breast tumorigenesis and its development include estrogen receptors (ERs), HER2, Wnt/β-catenin, Notch, Hedgehog (Hh), PI3K and mTOR pathway. Furthermore, certain enzymes like Cyclin dependent kinases and breast tumor kinases also play a vital role in cell cycle regulation and therefore, in the development of breast neoplasms. Recent studies have also enlightened the role of non-coding RNAs in breast cancer development. This review discusses various aspects of breast cancer such as its etiology, subtypes, various signaling pathways involved, targets projected by these pathways and the current treatment options based on a few of these targets. Also, the role of different genes, enzymes and non-coding RNAs related to breast tumorigenesis and development is discussed.

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McCuaig, Jeanna M., Emily Thain, Janet Malcolmson, Sareh Keshavarzi, Susan Randall Armel, and Raymond H. Kim. "A Comparison of Patient-Reported Outcomes Following Consent for Genetic Testing Using an Oncologist- or Genetic Counselor-Mediated Model of Care." Current Oncology 28, no. 2 (April 8, 2021): 1459–71. http://dx.doi.org/10.3390/curroncol28020138.

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This study compares knowledge, experience and understanding of genetic testing, and psychological outcomes among breast and ovarian cancer patients undergoing multi-gene panel testing via genetic counselor-mediated (GMT) or oncologist-mediated (OMT) testing models. A pragmatic, prospective survey of breast and ovarian cancer patients pursuing genetic testing between January 2017 and August 2019 was conducted at the Princess Margaret Cancer Centre in Toronto, Canada. A total of 120 (80 GMT; 40 OMT) individuals completed a survey administered one week following consent to genetic testing. Compared to OMT, the GMT cohort had higher median knowledge (8 vs. 9; p = 0.025) and experience/understanding scores (8.5 vs. 10; p < 0.001) at the time of genetic testing. Significant differences were noted in the potential psychological concerns experienced, with individuals in the GMT cohort more likely to screen positive in the hereditary predisposition domain of the Psychosocial Aspects of Hereditary Cancer tool (55% vs. 27.5%; p = 0.005), and individuals in the OMT cohort more likely to screen positive in the general emotions domain (65.0% vs. 38.8%; p = 0.007). The results of this study suggest that OMT can be implemented to streamline genetic testing; however, post-test genetic counseling should remain available to all individuals undergoing genetic testing, to ensure any psychologic concerns are addressed and that individuals have a clear understanding of relevant implications and limitations of their test results.

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Brankovic-Magic, Mirjana, Radmila Jankovic, and Sinisa Radulovic. "Breast cancer susceptibility genes: Options for those carrying BRCA1 mutations." Archive of Oncology 10, no. 3 (2002): 119–22. http://dx.doi.org/10.2298/aoo0203119b.

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The discovery of the association between breast and ovarian cancer and the BRCA genes and the development of methods for genetic testing made it possible to screen women for genetic predisposition to develop hereditary breast cancer (HBC). Parallelly, prevention strategies, including clinical surgical and medical interventions become available in order to reduce cancer risk. In a meantime, we became aware of limitations of genetic testing from the aspect of BRCA gene penetrance, negative result interpretation etc. All of these, together with data that invasive prevention strategies such as prophylactic surgery demonstrate better results in risk reduction than regimens including self and clinical-examination, face BRCA mutation carriers with difficult choice for risk reduction options. Therefore, the patients at high risk of HBC can best make informed decisions when guided by a multidisciplinary genetic counseling team.

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BAUM, MICHAEL, and ANTHONY COLLETTA. "Endocrine Aspects of Adjuvant Treatment of Breast Cancer." Annals of the New York Academy of Sciences 698, no. 1 Breast Cancer (November 1993): 313–17. http://dx.doi.org/10.1111/j.1749-6632.1993.tb17221.x.

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Gomes, Angélica M., Mariana P. Stelling, and Mauro S. G. Pavão. "Heparan Sulfate and Heparanase as Modulators of Breast Cancer Progression." BioMed Research International 2013 (2013): 1–11. http://dx.doi.org/10.1155/2013/852093.

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Breast cancer is defined as a cancer originating in tissues of the breast, frequently in ducts and lobules. During the last 30 years, studies to understand the biology and to treat breast tumor improved patients’ survival rates. These studies have focused on genetic components involved in tumor progression and on tumor microenvironment. Heparan sulfate proteoglycans (HSPGs) are involved in cell signaling, adhesion, extracellular matrix assembly, and growth factors storage. As a central molecule, HSPG regulates cell behavior and tumor progression. HS accompanied by its glycosaminoglycan counterparts regulates tissue homeostasis and cancer development. These molecules present opposite effects according to tumor type or cancer model. Studies in this area may contribute to unveil glycosaminoglycan activities on cell dynamics during breast cancer exploring these polysaccharides as antitumor agents. Heparanase is a potent tumor modulator due to its protumorigenic, proangiogenic, and prometastatic activities. Several lines of evidence indicate that heparanase is upregulated in all human sarcomas and carcinomas. Heparanase seems to be related to several aspects regulating the potential of breast cancer metastasis. Due to its multiple roles, heparanase is seen as a target in cancer treatment. We will describe recent findings on the function of HSPGs and heparanase in breast cancer behavior and progression.

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Gruvberger-Saal, Sofia K., Heather E. Cunliffe, Kristen M. Carr, and Ingrid A. Hedenfalk. "Microarrays in breast cancer research and clinical practice – the future lies ahead." Endocrine-Related Cancer 13, no. 4 (December 2006): 1017–31. http://dx.doi.org/10.1677/erc.1.01246.

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Molecular profiling for classification and prognostic purposes has demonstrated that the genetic signatures of tumors contain information regarding biological properties as well as clinical behavior. This review highlights the progress that has been made in the field of gene expression profiling of human breast cancer. Breast cancer has become one of the most intensely studied human malignancies in the genomic era; several hundred papers over the last few years have investigated various clinical and biological aspects of human breast cancer using high-throughput molecular profiling techniques. Given the grossly heterogeneous nature of the disease and the lack of robust conventional markers for disease prediction, prognosis, and response to treatment, the notion that a transcriptional profile comprising multiple genes, rather than any single gene or other parameter, will be more predictive of tumor behavior is both appealing and reasonable. Promising results have emerged from these studies, correlating gene expression profiles with prognosis, recurrence, metastatic potential, therapeutic response, as well as biological and functional aspects of the disease. Clearly, the integration of genomic approaches into the clinic lies in the near future, but prospective studies based on larger patient cohorts representing the whole spectrum of breast cancer, oncogenic pathway-based studies, attendant care in bioinformatic analyses and validation studies are needed before the full promise of gene expression profiling can be realized in the clinical setting.

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Hurtado-de-Mendoza, Alejandra, Kristi Graves, Sara Gómez-Trillos, Lyndsay Anderson, Claudia Campos, Chalanda Evans, Selma Stearns, Qi Zhu, Nathaly Gonzalez, and Vanessa Sheppard. "Provider’s Perceptions of Barriers and Facilitators for Latinas to Participate in Genetic Cancer Risk Assessment for Hereditary Breast and Ovarian Cancer." Healthcare 6, no. 3 (September 17, 2018): 116. http://dx.doi.org/10.3390/healthcare6030116.

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The Comprehensive Cancer Network (NCCN) recommends genetic cancer risk assessment (GCRA) referral to women at high risk of hereditary breast and ovarian cancer. Latinas affected by breast cancer have the second highest prevalence of BRCA1/2 mutations after Ashkenazi Jews. Compared to non-Hispanic Whites, Latinas have lower GCRA uptake. While some studies have identified barriers for GCRA use in this population, few studies have focused on health care providers’ perspectives. The purpose of the study was to examine providers’ perceptions of barriers and facilitators for at-risk Latina women to participate in GCRA and their experiences providing services to this population. We conducted semi-structured interviews with 20 healthcare providers (e.g., genetic counselors, patient navigators) recruited nationally through snowballing. Interviews were transcribed. Two coders independently coded each interview and then met to reconcile the codes using Consensual Qualitative Research guidelines. Providers identified several facilitators for GCRA uptake (e.g., family, treatment/prevention decisions) and barriers (e.g., cost, referrals, awareness, stigma). Genetic counselors described important aspects to consider when working with at-risk Latina including language barriers, obtaining accurate family histories, family communication, and testing relatives who live outside the US. Findings from this study can inform future interventions to enhance uptake and quality of GCRA in at-risk Latina women to reduce disparities.

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Eddy, Kevinn, Mohamad Naser Eddin, Anna Fateeva, Stefano Vito Boccadamo Pompili, Raj Shah, Saurav Doshi, and Suzie Chen. "Implications of a Neuronal Receptor Family, Metabotropic Glutamate Receptors, in Cancer Development and Progression." Cells 11, no. 18 (September 13, 2022): 2857. http://dx.doi.org/10.3390/cells11182857.

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Cancer is the second leading cause of death, and incidences are increasing globally. Simply defined, cancer is the uncontrolled proliferation of a cell, and depending on the tissue of origin, the cancer etiology, biology, progression, prognosis, and treatment will differ. Carcinogenesis and its progression are associated with genetic factors that can either be inherited and/or acquired and are classified as an oncogene or tumor suppressor. Many of these genetic factors converge on common signaling pathway(s), such as the MAPK and PI3K/AKT pathways. In this review, we will focus on the metabotropic glutamate receptor (mGluR) family, an upstream protein that transmits extracellular signals into the cell and has been shown to regulate many aspects of tumor development and progression. We explore the involvement of members of this receptor family in various cancers that include breast cancer, colorectal cancer, glioma, kidney cancer, melanoma, oral cancer, osteosarcoma, pancreatic cancer, prostate cancer, and T-cell cancers. Intriguingly, depending on the member, mGluRs can either be classified as oncogenes or tumor suppressors, although in general most act as an oncogene. The extensive work done to elucidate the role of mGluRs in various cancers suggests that it might be a viable strategy to therapeutically target glutamatergic signaling.

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Lagos, Veronica I., Martin A. Perez, Charité N. Ricker, Kathleen R. Blazer, Nydia M. Santiago, Nancy Feldman, Lori Viveros, and Jeffrey N. Weitzel. "Social-cognitive aspects of underserved Latinas preparing to undergo genetic cancer risk assessment for hereditary breast and ovarian cancer." Psycho-Oncology 17, no. 8 (August 2008): 774–82. http://dx.doi.org/10.1002/pon.1358.

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Song, Shuxuan, Kelsey S. Johnson, Henry Lujan, Sahar H. Pradhan, Christie M. Sayes, and Joseph H. Taube. "Nanoliposomal Delivery of MicroRNA-203 Suppresses Migration of Triple-Negative Breast Cancer through Distinct Target Suppression." Non-Coding RNA 7, no. 3 (July 27, 2021): 45. http://dx.doi.org/10.3390/ncrna7030045.

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Triple-negative breast cancers affect thousands of women in the United States and disproportionately drive mortality from breast cancer. MicroRNAs are small, non-coding RNAs that negatively regulate gene expression post-transcriptionally by inhibiting target mRNA translation or by promoting mRNA degradation. We have identified that miRNA-203, silenced by epithelial–mesenchymal transition (EMT), is a tumor suppressor and can promote differentiation of breast cancer stem cells. In this study, we tested the ability of liposomal delivery of miR-203 to reverse aspects of breast cancer pathogenesis using breast cancer and EMT cell lines. We show that translationally relevant methods for increasing miR-203 abundance within a target tissue affects cellular properties associated with cancer progression. While stable miR-203 expression suppresses LASP1 and survivin, nanoliposomal delivery suppresses BMI1, indicating that suppression of distinct mRNA target profiles can lead to loss of cancer cell migration.

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Kash, Kathryn M., Karina Ortega-Verdejo, Mary Kay Dabney, Jimmie C. Holland, Daniel G. Miller, and Michael P. Osborne. "Psychosocial aspects of cancer genetics: Women at high risk for breast and ovarian cancer." Seminars in Surgical Oncology 18, no. 4 (June 2000): 333–38. http://dx.doi.org/10.1002/(sici)1098-2388(200006)18:4<333::aid-ssu8>3.0.co;2-4.

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Palamarchuk, V., V. V. Voitenko, N. Shapoval, and T. Ogryzko. "Clinical case of familial medullary thyroid carcinoma." Clinical Endocrinology and Endocrine Surgery, no. 1 (December 6, 2021): 76–81. http://dx.doi.org/10.30978/cees-2021-1-76.

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Medullary thyroid cancer (MTC) accounts for 5—10 % of all thyroid cancers. Most cases are sporadic (75 %), but the proportion of patients with MTC and familial medullary thyroid carcinoma (FMTC) is the highest among any hereditary cancer syndromes (approximately 25 %), and this risk should be considered when evaluating a patient with MTC. In this clinical case study, case of FMTC has been elucidated. Diagnostic criteria of the disease, molecular-genetic aspects, treatment tactics and post-operative observation findings have been presented. The case study illustrates, the efficacy of genomic profiling for the identification of molecular genetic drivers of the disease and its role in ensuring proper and timely diagnosis and treatment of familial form of MTC. When planning prophylactic thyroidectomy, it is recommended to focus on the stratification of the level of RET gene mutation and the timing of prophylactic thyroidectomy as proposed by the American Thyroid Association. The use of molecular genetic investigations in clinical practice for diagnosing MTC makes it possible to objectify the genetic line of the disease in a particular biological family. The patient was found to have a pathogenic germline missense mutation c.2304 G> T (p.E768D, CM020961) in a heterozygous state, which refers to moderate risk of aggressiveness of MTC. In addition, molecular genetic test was performed for the patient's biological child, a 4-year-old girl. Pathogenic mutation was found in the CHEK2 gene, c.47OT> C (p.Ile 157 Thr) in a heterozygous state. These mutations increase the risk of developing breast cancer by 2-3 times, and by 4-5 times in the presence of family history of cancer. The presence of this mutation increases the risk of developing other types of cancers such as stomach, breast, intestinal, prostate and thyroid cancers. Timely diagnosis of FMTC allows to formulate adequate treatment strategy at the preclinical stage of the disease and can significantly improve the quality and duration of life.

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Klein, Roger D., and Maurice J. Mahoney. "LabCorp v. Metabolite Laboratories: The Supreme Court Listens, but Declines to Speak." Journal of Law, Medicine & Ethics 36, no. 1 (2008): 141–49. http://dx.doi.org/10.1111/j.1748-720x.2008.00243.x.

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Molecular genetic testing has increasingly been incorporated into clinical medicine, and this trend is likely to accelerate in the future. The introduction of genetic testing into medical practice is beginning to collide head on with patents that claim ownership of correlations between human genetic variants and predisposition to disease, response to therapeutic drugs, and susceptibility to pharmacologic side effects. Patent holders or licensees of genes, genetic variants, and their genotype-phenotype correlations are already using the threat of litigation to monopolize genetic tests for important well-known syndromes like Duchenne Muscular Dystrophy and inherited breast and ovarian cancer, in addition to a host of less commonly discussed conditions.

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Mederos, Nuria, Alex Friedlaender, Solange Peters, and Alfredo Addeo. "Gender-specific aspects of epidemiology, molecular genetics and outcome: lung cancer." ESMO Open 5, Suppl 4 (November 2020): e000796. http://dx.doi.org/10.1136/esmoopen-2020-000796.

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Lung cancer remains the leading cause of cancer-related deaths worldwide in women and men. In incidence, lung cancer ranks second, surpassed by breast cancer in women and prostate cancer in men. However, the historical differences in mortality and incidence rate between both sexes have changed in the last years. In the last decades, we have also witnessed an increased number of lung cancer in female never-smokers. These disparities have grown our interest in studying the impact of the gender and sex in the presentation of lung cancer. The aetiology is yet to be fully elucidated, but the data are clear so far: there is a growing divide between lung cancer presentation in women and men that will change our management and study of lung cancer. This article aims to review the sex and gender differences in lung cancer.

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Mor, Pnina, and Kathleen Oberle. "Ethical Issues Related To BRCA Gene Testing in Orthodox Jewish Women." Nursing Ethics 15, no. 4 (July 2008): 512–22. http://dx.doi.org/10.1177/09697330080150041201.

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Persons exhibiting mutations in two tumor suppressor genes, BRCA1 and BRCA2, have a greatly increased risk of developing breast and/or ovarian cancer. The incidence of BRCA gene mutation is very high in Ashkenazi Jewish women of European descent, and many issues can arise, particularly for observant Orthodox women, because of their genetic status. Their obligations under the Jewish code of ethics, referred to as Jewish law, with respect to the acceptability of various risk-reducing strategies, may be poorly understood. In this article the moral direction that Jewish law gives to women regarding testing, confidentiality, and other issues is explored. The intent is to broaden nurses' knowledge of how a particular religious tradition could impact on decision making around genetics testing, with the aim of enhancing their understanding of culturally sensitive ethical care.

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Chakrabarty, Jyothi, and M. S. Vidyasagar. "Yoga as an Adjuvant for Cancer Patients in India." Forum of Clinical Oncology 11, no. 3 (December 1, 2020): 17–22. http://dx.doi.org/10.2478/fco-2019-0012.

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Abstract Though Yoga has originated in India, its scientific use to alleviate the sufferings of cancer patients in India is thin. There are very few published studies on yoga intervention for cancer patients from India. The objective of this review was to analyze the studies that have used yoga as an adjuvant for cancer treatment. Literature searches were made in PubMed, CINAHL, Google Scholar, Proquest and Science Direct for retrieving the related studies. Data were analyzed according to the objective. The compiled results show that yoga and pranayama interventions for cancer patients in India focused mostly on psychological aspects like anxiety and depression. Few studies have explored deep into the mechanisms by which the interventions produce the desired effects. Only very few researchers have analyzed the genetic or biochemical changes that occur in the human body as a result of practicing yoga. Currently, the focus is generally on breast cancer. Researches with yoga and pranayama as an adjuvant for other cancers also need to be experimented.

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Neves, Nedy Maria Branco Cerqueira, Camila Silva Boaventura, Maria Alice Freitas Costa, and Almir Galvão Vieira Bitencourt. "Implicações éticas dos testes genéticos de suscetibilidade ao câncer de mama." Revista Bioética 30, no. 3 (September 2022): 636–43. http://dx.doi.org/10.1590/1983-80422022303557pt.

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Resumo O câncer de mama representa um problema de saúde pública por ser a neoplasia maligna de maior incidência em mulheres no mundo. A forma hereditária corresponde a cerca de 5% a 10% de todos os casos e está diretamente relacionada à herança de mutações genéticas, sendo as principais nos genes supressores de tumor BRCA1 e BRCA2. A identificação dessas mutações é de extrema importância pelo elevado risco de desenvolvimento de câncer de mama nessa população, permitindo estratégias de rastreamento diferenciado e adoção de medidas de redução de risco. Entretanto, é importante e necessário refletir sobre os aspectos éticos relacionados ao uso indiscriminado de testes genéticos. O objetivo deste trabalho foi avaliar o conhecimento e a opinião de médicos de um centro de referência oncológico sobre a indicação dos testes genéticos de suscetibilidade ao câncer de mama mediante dilemas éticos aos quais são submetidos na prática médica.

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Zhang, Ya-nan, Ke-rui XIA, Chang-yi LI, Ben-li WEI, and Bing Zhang. "Review of Breast Cancer Pathologigcal Image Processing." BioMed Research International 2021 (September 20, 2021): 1–7. http://dx.doi.org/10.1155/2021/1994764.

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Abstract:

Breast cancer is one of the most common malignancies. Pathological image processing of breast has become an important means for early diagnosis of breast cancer. Using medical image processing to assist doctors to detect potential breast cancer as early as possible has always been a hot topic in the field of medical image diagnosis. In this paper, a breast cancer recognition method based on image processing is systematically expounded from four aspects: breast cancer detection, image segmentation, image registration, and image fusion. The achievements and application scope of supervised learning, unsupervised learning, deep learning, CNN, and so on in breast cancer examination are expounded. The prospect of unsupervised learning and transfer learning for breast cancer diagnosis is prospected. Finally, the privacy protection of breast cancer patients is put forward.

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Journal articles on the topic 'Breast – Cancer – Genetic aspects'

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