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Автор: Grafiati
Опубліковано: 4 червня 2021
Оновлено: 31 липня 2024

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Статті в журналах з теми "Cancer – Genetic aspects"

1

Hold, Georgina L., and M. Emad El-Omar. "Genetic aspects of inflammation and cancer." Biochemical Journal 410, no. 2 (February 12, 2008): 225–35. http://dx.doi.org/10.1042/bj20071341.

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Chronic inflammation is involved in the pathogenesis of most common cancers. The aetiology of the inflammation is varied and includes microbial, chemical and physical agents. The chronically inflamed milieu is awash with pro-inflammatory cytokines and is characterized by the activation of signalling pathways that cross-talk between inflammation and carcinogenesis. Many of the factors involved in chronic inflammation play a dual role in the process, promoting neoplastic progression but also facilitating cancer prevention. A comprehensive understanding of the molecular and cellular inflammatory mechanisms involved is vital for developing preventive and therapeutic strategies against cancer. The purpose of the present review is to evaluate the mechanistic pathways that underlie chronic inflammation and cancer with particular emphasis on the role of host genetic factors that increase the risk of carcinogenesis.
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Hudler, Petra. "Genetic Aspects of Gastric Cancer Instability." Scientific World Journal 2012 (2012): 1–10. http://dx.doi.org/10.1100/2012/761909.

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Unravelling the molecular mechanisms underlying gastric carcinogenesis is one of the major challenges in cancer genomics. Gastric cancer is a very complex and heterogeneous disease, and although much has been learned about the different genetic changes that eventually lead to its development, the detailed mechanisms still remain unclear. Malignant transformation of gastric cells is the consequence of a multistep process involving different genetic and epigenetic changes in numerous genes in combination with host genetic background and environmental factors. The majority of gastric adenocarcinomas are characterized by genetic instability, either microsatellite instability (MSI) or chromosomal instability (CIN). It is believed that chromosome destabilizations occur early in tumour progression. This paper summarizes the most common genetic alterations leading to instability in sporadic gastric cancers and its consequences.
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3

Olsson, R. "Hepatitis and Cancer: Genetic Aspects." Scandinavian Journal of Gastroenterology 31, sup220 (January 1996): 115–20. http://dx.doi.org/10.3109/00365529609094761.

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4

R., Bohiltea. "Genetic aspects of endometrial cancer." Gineco.eu 12, no. 1 (March 20, 2016): 29–32. http://dx.doi.org/10.18643/gieu.2016.29.

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5

Karlan, Beth Y., and Deborah Krakow. "Genetic aspects of ovarian cancer." Current Opinion in Obstetrics and Gynecology 6, no. 1 (February 1994): 105. http://dx.doi.org/10.1097/00001703-199402000-00017.

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6

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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7

Latil, Alain, and R. Lidereau. "Genetic aspects of prostate cancer." Virchows Archiv 432, no. 5 (May 19, 1998): 389–406. http://dx.doi.org/10.1007/s004280050183.

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8

Hecht, Jonathan L., and George L. Mutter. "Molecular and Pathologic Aspects of Endometrial Carcinogenesis." Journal of Clinical Oncology 24, no. 29 (October 10, 2006): 4783–91. http://dx.doi.org/10.1200/jco.2006.06.7173.

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Endometrial cancer is the most common gynecological malignancy, with 41,000 new cases projected in the United States for 2006. Two different clinicopathologic subtypes are recognized: the estrogen-related (type I, endometrioid) and the non–estrogen-related types (type II, nonendometrioid such as papillary serous and clear cell). The morphologic differences in these cancers are mirrored in their molecular genetic profile with type I showing defects in DNA-mismatch repair and mutations in PTEN, K-ras, and beta-catenin, and type II showing aneuploidy and p53 mutations. This article reviews the genetic aspects of endometrial carcinogenesis and progression. We will define the precursor lesion of type I endometrioid cancer and the role of genetics and estrogen in its progression.
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Hill, R. P. "Genetic aspects of metastasis." Current Opinion in ONCOLOGY 2, no. 1 (February 1990): 157–62. http://dx.doi.org/10.1097/00001622-199002000-00026.

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10

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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Дисертації з теми "Cancer – Genetic aspects"

1

Fransén, Karin. "Molecular genetic aspects of colorectal cancer development /." Linköping : Univ, 2005. http://www.bibl.liu.se/liupubl/disp/disp2005/med878s.pdf.

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Steggles, Naomi. "Psychological aspects of genetic testing for cancer." Thesis, University College London (University of London), 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.271020.

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3

Cheung, Chin-ling, and 張展寧. "Genetic analysis of nasopharyngeal cancer." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2010. http://hub.hku.hk/bib/B44659866.

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4

Hayat, Roshanai Afsaneh. "Psychological and Behavioral Aspects of Receiving Genetic Counseling for Hereditary Cancer." Doctoral thesis, Uppsala universitet, Vårdvetenskap, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-128870.

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The overall aims of this thesis were to investigate psychological and behavioral effects of receiving cancer genetic counseling for breast, ovarian and colorectal cancer and/or with a family history of these cancer types and to determine whether counselees’ informational needs were met. Study I was performed 3-7 years post-counseling. Participants (n=214) reported a relatively high level of anxiety but a low level of depression compared to cancer patients in general. However, there was no indication that the distress experienced was due to the counseling. Moderate changes in life and family relations, high level of adherence to recommended controls and satisfaction was reported. Study II was a randomized control trial (RCT) intervention study which involved 147 counselees. An increase in the level of knowledge and correct estimation of personal risk was reported in both the intervention and control groups, although this increase declined at later follow-up. Enhanced information led to significantly greater satisfaction with the given information, and the way of informing relatives. Most counselees had shared information with their at-risk relatives. Study III focused on sharing information with at-risk relatives among participants in study II and their relatives (n=81). Counselees were interviewed and answered a questionnaire, whilst their relatives only answered the questionnaire. Counselees reported positive/neutral feelings about communicating genetic information and mostly interpreted their relatives’ reactions as positive/ neutral. Also, approximately 50% of relatives reported positive/neutral reactions and were generally satisfied with the received information. Study IV was conducted in Sweden and Norway based on 235 counselees. Counselees expected counselors to be skillful and thoughtful, take them seriously and provide risk estimations and medical information. Most important issues to counselees were satisfactorily addressed by the counselors. Analyzing importance rankings resulted in five categories of needs: a need for facts, caring communication and medical information, need for understanding and support in sharing genetic information, practical care and medical/practical information. In conclusion, no adverse psychological or behavioral effect on counselees was observed. Apparently, genetic counseling is managed properly and counselors successfully address counselees’ needs. Providing extended information does not seem necessary, however, tailoring information to individual counselees needs may create a more effective counseling.
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陳安安 and On-on Annie Chan. "Methylation in colorectal cancer." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2002. http://hub.hku.hk/bib/B25256312.

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Tai, Lai-shan, and 戴麗珊. "Molecular genetic characterizations of human non-small cell lung cancer." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2005. http://hub.hku.hk/bib/B31375315.

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Zhao, Wei, and 趙煒. "BRAF mutation and aberrant methylation of gene promoters in the pathogenesis of gastrointestinal tract adenocarcinoma." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2006. http://hub.hku.hk/bib/B36718464.

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8

Wright, C. M. "The prognostic significance of microsatellite instability in sporadic stage C colorectal cancer." Thesis, The University of Sydney, 2008. https://hdl.handle.net/2123/28955.

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Identification and understanding of the molecular events involved in colorectal cancer (CRC) pathogenesis should lead to better comprehension of the disease process, hopefully leading to better prognostic stratification, and as a result more targeted treatment regimens and improved patient outcomes. A sub group of sporadic CRC exhibit microsatellite instability (MSI). MSI is seen when the fidelity of DNA replication is impaired. Cancers may be categorized as MSI-high (MSI-H), MSI-low (MSI-L), or microsatellite stable (MSS), according to the degree of MSI exhibited. This research project was designed to analyse the association between MSI—H and MSI-L, clinicopathological features and survival in an unselected group of patients with sporadic Australian Clinicopathological Stage (ACPS) C / American Joint Committee on Cancer (AJCC) stage III CRC, i.e. patients with lymph node metastases at the time of surgical resection of their cancer. The criteria used to determine MSI, specifically the type and number of microsatellite markers used, were also reviewed. 255 patients who underwent resection for sporadic ACPS stage C CRC were studied; none of these patients received chemotherapy. Archival normal and tumour DNA were extracted and amplified by polymerase chain reaction using a radioactive-labelling technique and a panel of internationally recognised microsatellite markers. MSI-H was defined as instability in 2 40% of 7 markers, MSI-L as instability at > 0% but < 40% of 11 markers, and M88 as no instability. Twenty one MSI-H and 33 MSI-L CRC were identified. Significant results included that MSI-H tumours are more commonly right sided (p < 0.00001); larger (p 5 0.0005); more likely to be high grade (p = 0.049); and, after adjustment for age, sex and other pathology variables, associated with improved survival (p = 0.015). No difference was found between the biological characteristics of MSI-L and MSS CRC. MSI-L CRC showed a trend towards poorer cancer-specific survival than MSS CRC but this difference did not reach statistical significance. Although dependent on the number and type of microsatellites used, similar trends in the results were seen when different criteria were used to determine MSI. This study has contributed to the rapidly expanding literature on CRC carcinogenesis and, at the time completed, was one of the first to show an association between MSI-H and improved survival in clinicopathological stage C CRC patients who had not received chemotherapy. It supports the view that identification of MSI status in patients with sporadic ACPS C / AJCC stage III tumours may help stratify patients according to prognosis and should be considered in therapeutic decision making and future trials of adjuvant therapy. However to accurately determine the clinical usefulness of MSI more precise standardisation of the definition and methodologies used to identify M81 is required.
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黃鳳如 and Fung-yu Huang. "Molecular and cytogenetic analysis of cervical and vulvar cancer." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2002. http://hub.hku.hk/bib/B26662188.

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Khoo, Ui-soon, and 邱瑋璇. "Genetic susceptibility to gynaecological cancers in the Chinese population." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2002. http://hub.hku.hk/bib/B25257365.

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Книги з теми "Cancer – Genetic aspects"

1

Côté, Gilbert B. Cancer cytogenetics lookup. Ontario, Canada: Canell, 1999.

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2

1959-, Eeles Rosalind A., ed. Genetic predisposition to cancer. London: Chapman & Hall Medical, 1996.

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1959-, Eeles Rosalind A., ed. Genetic predisposition to cancer. 2nd ed. London: Arnold, 2004.

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4

W, Weber, Mulvihill John J. 1943-, and Narod Steven A, eds. Familial cancer management. Boca Raton: CRC Press, 1996.

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5

Chung, Daniel C., and Daniel A. Haber. Principles of clinical cancer genetics: A handbook from the Massachusetts General Hospital. Edited by Massachusetts General Hospital. New York: Springer, 2010.

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6

K, Cowell John, ed. Molecular genetics of cancer. 2nd ed. Oxford: Bios, 2001.

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7

International Research Conference on Familial Cancer (2nd 1995 Basel, Switzerland). Hereditary cancer: Second International Research Conference on Familial Cancer, Basel, September 11-15, 1995. Edited by Müller Hj, Scott R. J, and Weber W. Basel: Karger, 1996.

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8

O, Tollefsbol Trygve, ed. Cancer epigenetics. Boca Raton: CRC Press/Taylor & Francis Group, 2009.

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9

Macadam, Ian. Race against cancer: A genetic approach to control of cancer. Edinburgh: I. Macadam, 1996.

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10

Hoda, Anton-Guirgis, and Lynch Henry T, eds. Biomarkers, genetics, and cancer. New York: Van Nostrand Reinhold, 1985.

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Частини книг з теми "Cancer – Genetic aspects"

1

Goddard, Audrey D., and Ellen Solomon. "Genetic Aspects of Cancer." In Advances in Human Genetics 21, 321–76. Boston, MA: Springer US, 1993. http://dx.doi.org/10.1007/978-1-4615-3010-7_4.

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2

Chichakli, Ramsey N., and Jeffrey R. Gingrich. "Genetic Aspects of Urologic Malignancies." In Inherited Cancer Syndromes, 205–40. New York, NY: Springer New York, 2004. http://dx.doi.org/10.1007/0-387-21596-4_9.

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Sobels, F. H. "Genetic Aspects of Cancer Epidemiology." In Antimutagenesis and Anticarcinogenesis Mechanisms, 459–63. Boston, MA: Springer US, 1986. http://dx.doi.org/10.1007/978-1-4684-5182-5_40.

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MacKay, J., and M. Steel. "Genetic Aspects of Human Breast Cancer." In High-Risk Breast Cancer, 45–68. Berlin, Heidelberg: Springer Berlin Heidelberg, 1989. http://dx.doi.org/10.1007/978-3-642-73718-3_3.

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Greene, M. H., and S. J. Bale. "Genetic Aspects of Cutaneous Malignant Melanoma." In Recent Results in Cancer Research, 144–53. Berlin, Heidelberg: Springer Berlin Heidelberg, 1986. http://dx.doi.org/10.1007/978-3-642-82641-2_12.

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Aspinwall, Lisa G., Jennifer M. Taber, Wendy Kohlmann, and Sancy A. Leachman. "Psychological Aspects of Hereditary Cancer Risk Counseling and Genetic Testing." In Psychological Aspects of Cancer, 31–64. Boston, MA: Springer US, 2012. http://dx.doi.org/10.1007/978-1-4614-4866-2_3.

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7

Yaghmaie, Marjan, Mohammad Ahmadvand, Ali-akbar Nejati Safa, and Hossein Pashaiefar. "Genetic, Hematologic and Psychological Aspects of Leukemia." In Cancer Genetics and Psychotherapy, 667–755. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-64550-6_14.

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Backer, J. M., and C. V. Hamby. "Genetic control of metastasis." In Molecular Aspects of Cancer and its Therapy, 1–19. Basel: Birkhäuser Basel, 1998. http://dx.doi.org/10.1007/978-3-0348-8946-9_1.

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Sobti, R. C., Adnan Issa AL-Badran, Khadijeh Onsori, and S. K. Sharma. "Bladder Cancer: Genetic and Epidemiological Factors Involved in its Genesis." In Some Aspects of Chromosome Structure and Functions, 207–24. Dordrecht: Springer Netherlands, 2002. http://dx.doi.org/10.1007/978-94-010-0334-6_19.

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McIvor, R. Scott. "Gene Therapy for Genetic Disease and Cancer." In Animal Cell Technology: Basic & Applied Aspects, 7–12. Dordrecht: Springer Netherlands, 2002. http://dx.doi.org/10.1007/978-94-017-0728-2_2.

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Тези доповідей конференцій з теми "Cancer – Genetic aspects"

1

Rotaru, Ludmila, and Tudor Rotaru. "Ovarian cancer – genetic aspects." In XIth International Congress of Geneticists and Breeders from the Republic of Moldova. Scientific Association of Geneticists and Breeders of the Republic of Moldova, Institute of Genetics, Physiology and Plant Protection, Moldova State University, 2021. http://dx.doi.org/10.53040/cga11.2021.041.

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2

Mishatkina, T. V., S. B. Melnov, and E. V. Snytkov. "GENETIC AND SOCIO-BIOETHICAL ASPECTS OF BREAST CANCER PREDISPOSITION AMONG WOMEN OF SLAVIC AND CENTRAL ASIAN ETHNIC GROUPS." In SAKHAROV READINGS 2021: ENVIRONMENTAL PROBLEMS OF THE XXI CENTURY. International Sakharov Environmental Institute, 2021. http://dx.doi.org/10.46646/sakh-2021-1-64-68.

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The publication was prepared based on the materials of the implementation of the joint Belarusian-Uzbek two-year scientific project “Genetic and socio-bioethical aspects of predisposition to breast cancer for women of Slavic and Central Asian ethnic groups.” The results of studies carried out from October 01, 2020 to March 15, 2021 are presented.
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Ferreira, Nancy, Darley Ferreira, and Thais Ferreira. "GENETIC EVALUATION OF MICROCALCIFICATIONS AS A PROGNOSTIC FACTOR." In Abstracts from the Brazilian Breast Cancer Symposium - BBCS 2021. Mastology, 2021. http://dx.doi.org/10.29289/259453942021v31s2101.

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Introduction: Breast cancer is the most recurring type of cancer among women, with reduced mortality at an initial stage of lesion. From a radiological perspective, perceived microcalcifications may be associated with histological findings such as proliferative injuries with or without atypical features and ductal carcinoma in situ. Currently, percutaneous and vacuum biopsies allow for the correlation between anatomoradiological and identification of previous lesions and those that offer the risk of cancer. No biomarker has been established to predict the risk of cancer in women diagnosed with benign mammary disease. Doing so could strengthen the possibility of stratifying the individual risk of benign injuries for cancer. The platelet-derived growth factor receptor A (PDGFRA) plays its part in tumor oncogenesis, angiogenesis, and metastasis, and its activation is found in some kinds of cancer. In contrast, DNA methylation standards are initial changes to the development of cancer and may be helpful in its early identification, being regulated by a family of enzymes called DNMTs (DNA methyltransferase). Methods: The aim of this study was to evaluate the profile of BI-RADS® 4 and 5 mammary microcalcification women carriers and determine the level of the gene expression of possible molecular markers in 37 patients with mammary microcalcification (paraffin blocks) and 26 patients with breast cancer (fresh in RNA later tissue) cared for at the Hospital Barão de Lucena’s Mastology Ambulatory. Anatomoradiological aspects along with clinical findings have been evaluated , and percentage rates have been calculated. The PDGFRA and DNMTs (DMNT3a) gene expressions have been established using quantitative polymerase chain reaction (qPCR), with the use of β-actin as reference gene. Discussion: In the patients with mammary microcalcification, the average age was 55.9; predominantly whiteskinned subjects (p<0.014). Most of them were mothers (p<0.001), and the average menarche age was 13. The subgroups that presented greater significance were patients classified BI-RADS® in category IV (67.6%) and histological findings of nonproliferative lesion (p<0.001). Lesions of the ductal carcinoma in situ type (100%) presented positive estrogen and progesterone receptors, and 94.6% have undergone sectorectomy surgery by prior needling (p<0.001). The most damaged breast was the left one (62.2%), and the most affected quadrant was the top lateral one (59.5%) (p<0.001). There was no family history in 83.8% of the cases. In the tested microcalcification samples, it was not possible to observe the expression of PDGFRA. Nevertheless, 15 out of 37 patients with microcalcification showed an increase in the gene expression of DMNT3a, most of them greater than Luminal and triple-negative cancer types. Conclusion: The data presented here highlight the improvement on the description of BI-RADS® 4 subclassification in order to better conduct the clinical decision and also demonstrated the potential of DNMTs evaluation in microcalcification samples as a strategy to access the understanding about the role of these molecules in the breast cancer development.
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Assis, Amilcar Alves, Mauro Passos, Rodrigo Kouzak, Karoline Evangelista, and Natasha Caldas. "BREAST CANCER IN YOUNG PATIENTS: PROGNOSTIC AND PROFILE EPIDEMIOLOGICAL ANALYSIS IN A TERTIARY HOSPITAL." In Abstracts from the Brazilian Breast Cancer Symposium - BBCS 2021. Mastology, 2021. http://dx.doi.org/10.29289/259453942021v31s2093.

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Breast cancer is the second most prevalent and first in mortality in Brazilian women. Its incidence has increased in recent years in all age groups. According to the Instituto Nacional do Câncer in 2019, 59,700 new cases of breast cancer are expected, with an estimated risk of 56.33 cases per 100 women. The diagnosis of breast cancer is more frequent in women after 50 years of age; it is estimated that only 25% of all cases occur in women below the age of 50 years; however, there was a literature consensus that tumors in this young age group have a worse prognosis, both because they are biologically more aggressive and because of affect women outside the screening age group in Brazil; thus, the rate of locally advanced disease at diagnosis in this age group is considerably higher. It is suggested that early onset breast cancer is related to different etiological factors, histopathological aspects, and clinical outcomes, as compared to postmenopausal breast cancer. Thus, age becomes an important prognostic factor. Since breast cancer is a curable pathology, the type of therapeutic approach also varies, with proposed treatment tends to be more aggressive. With the advent and increasing availability of genetic tests, predisposition of breast cancer has increased the number of indications for prophylactic mastectomies, especially in younger age groups or notably in patients with known pathological mutations in BRCA1 and BRCA2 genes. However, the literature is still controversial regarding its impact on overall survival. Breast cancer diagnosed before the age of 50 years is a behavioral disease, with prognosis and approach very different from that diagnosed in postmenopausal women. Therefore, it is important to know the profile of these patients to provide optimal treatment and achieve the best outcomes.
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Esteban, Jorge Illarramendi, Montserrat Alvarellos, Mercedes Rodriguez, Amaya Zabalza, and José Juan Illarramendi. "IRON OVERLOAD IN A BREAST CANCER PATIENT WITH A HOMOZYGOUS MUTATION IN THE HFE HEMOSTATIC IRON REGULATOR GENE: CONSIDERATIONS REGARDING THE USE OF ADJUVANT HORMONE THERAPY." In Brazilian Breast Cancer Symposium 2022. Mastology, 2022. http://dx.doi.org/10.29289/259453942022v32s2082.

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Introduction: Homozygous mutations in the HFE gene are among the causes of iron overload worldwide. Several reports suggest an increased risk of breast cancer (BC) in these patients, although there are controversial evidences on this subject. There is some discussion on the tolerance to some BC adjuvant therapies in these patients regarding aspects like the potential cardiotoxicities. Information on adjuvant hormone therapy in this setting is very limited. Case report: A 65-year- -old woman was treated with segmental resection in the left breast and selective biopsy of the sentinel node in April 2019. Pathology showed an infiltrating ductal carcinoma of 1.2 cm, grade 1, with two negative sentinel nodes. Estrogen receptor was 100%, progesterone receptor was 20%, Her2/neu was 1+, and Ki-67 was 15%. A previous diagnosis of hemochromatosis was done in October 2018 with a high transferrin saturation and a genetic analysis disclosing a homozygous C282Y mutation in the HFE gene. Regular phlebotomies every 3 months were scheduled for the treatment of the iron overload. Several points were considered for the selection of the adjuvant hormone therapy. Articular damage is a common complication of hemochromatosis. In fact, a hip prosthesis was implanted in 2018 for our patient with severe coxarthrosis. There was some risk of further articular impairment with aromatase inhibitors (AI). Furthermore, AI may have an androgenic effect, with some effect on the red cell mass. On the contrary, tamoxifen may increase the risk of porphyria crises in patients with hemochromatosis. We selected letrozole as adjuvant therapy, with good articular tolerance and fair hematological control after nearly 3 years of follow-up. Conclusion: Although homozygous HFE mutations may increase the risk of some adverse events related to BC adjuvant hormone therapy, the tolerance to letrozole in our patients has been very good, without raising further concerns.
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Kumar, N., A. Mishra, and S. Deo. "169 A prospective interventional study evaluating awareness and knowledge about genetic aspects of breast cancer and the effect of educational intervention: a real-life experience." In IGCS 2020 Annual Meeting Abstracts. BMJ Publishing Group Ltd, 2020. http://dx.doi.org/10.1136/ijgc-2020-igcs.147.

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onoda, Takashi, and Yasunobu Ito. "Academic Researchers' Voluntary Incentives in Technology Transfer: An ethnographic case study of genome science." In 15th International Conference on Applied Human Factors and Ergonomics (AHFE 2024). AHFE International, 2024. http://dx.doi.org/10.54941/ahfe1005108.

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The predominant contributors to the advancement of medical devices have traditionally resided within the industrial sector. Nevertheless, owing to recent progress in open innovation and other contributing factors, academia has experienced a notable surge in research and development activities. In 2015, the Japanese government inaugurated the Japan Agency for Medical Research and Development (AMED), aspiring to emulate the National Institutes of Health (NIH) in the United States, with the objective of fostering the creation of medical devices originating from academic endeavors. In the realm of medical devices utilized for diagnostic, therapeutic, preventative, or monitoring purposes, there is a growing focus not only on therapeutic and diagnostic devices but also on the burgeoning significance of simple genetic diagnosis as a testing modality. The application of genetic diagnosis has extended beyond rare diseases to encompass the treatment of common ailments such as cancer, manifesting a notable expansion in recent years. Projections indicate that by 2025, the global market is poised to reach $13.2 billion, a threefold increase from the 2017 level, with further growth anticipated in tandem with heightened research and development undertakings. Despite these promising prospects, the facilitation of medical device development within academia encounters formidable challenges. Issues such as funding constraints, legal constraints, and limited collaboration with industry are universally acknowledged hurdles. Of particular concern is the sustainable promotion of these activities by researchers within academic institutions. Historically, addressing societal implementation concerns related to technology transfer and commercialization has fallen under the purview of liaison personnel, who act as intermediaries between industry and academia. However, existing support structures primarily address external aspects, presenting challenges in offering comprehensive solutions. Additionally, the imperative of devising mechanisms to ensure incentives for academic researchers is a critical aspect of sustainable activities, constituting a prominent challenge. Consequently, this study places emphasis on the cognitive culture or background—the epistemic culture inherent in the consciousness of actors engaged in research and development. Employing a multi-site ethnographic survey encompassing research institutions and facilities affiliated with the participating actors, alongside in-depth interviews, the study endeavors to shed light on the cultural aspects of knowledge intrinsic to the awareness of participating actors and their backgrounds. A protracted ethnographic and interview survey will be conducted among researchers involved in the "Cancer Biomarker Discovery Project" within academic research organizations. The aim is to elucidate the cultural dimensions of knowledge inherent in the consciousness of participating actors and to identify the challenges associated with medical device development within academia. Through survey analysis, this research will address the issue of securing voluntary incentives for researchers, a recognized concern in the context of medical device development within academia. The anticipated outcome is the elucidation of guidelines and promotional strategies for ensuring voluntary incentives, thereby fostering the revitalization of medical device development within academic settings.
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Руда, М. Г. "Legal regulation of the use of biological collections as a "pillar" of genetic research." In XXIII Международная научная конференция «Цивилизация знаний: российские реалии» «Цивилизационные задачи современного правоведения: наука, образование, практика» (стратегическая панель). Crossref, 2022. http://dx.doi.org/10.18137/cz22.2022.65.55.001.

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В статье рассматриваются изменения, произошедшие под воздействием механизмов глобализации и интеграции. В первую очередь, это отразилось в изменении вектора эволюции основных тенденций использования материала биологических коллекций как «фундамента» генетических исследований в различных областях науки и практики. К ним относятся, в частности, исследования биологического разнообразия и оценка негативного антропогенного воздействия на окружающую среду. Кроме того, с помощью прогностического, статистического и аксиологического методов сделан ряд важных выводов о возможных последствиях такого воздействия и путях его минимизации. Эти выводы следуют из анализа перечня сопутствующих факторов: социологического, экономического, политического. Более того, изучено влияние данных аспектов на реализацию таких базовых прав человека, как право на получение достоверной информации и право на благоприятную окружающую среду, которые, в свою очередь тесно взаимосвязаны с реализацией государственными органами мероприятий, направленных на повышение качества и уровня жизни населения Российской Федерации. Кроме того, коллекции также рассмотрены как основной источник информации в палеонтологических, археологических, селекционных исследованиях, которые позволяют в долгосрочной перспективе обеспечить биологическую и продовольственную безопасность и эффективное развитие аграрно-промышленного комплекса РФ. Необходимо также отметить стремительно растущий потенциал коллекций биологического материала человека в генетической генеалогии, исследовании ряда заболеваний (например, онкологических), а также механизма генетического редактирования CRISPR CaS-9, так называемых «генетических ножниц». The article deals with the changes that have taken place under the influence of globalization and integration mechanisms. First of all, it is reflected in the change of the vector of evolution of the main trends in the use of biological collections as the "foundation" of genetic research in various fields of science and practice. These include, in particular, studies of biodiversity and assessment of the negative anthropogenic impact on the environment. In addition, using predictive, statistical, and axiological methods, a number of important conclusions about the possible consequences of such impacts and the ways to minimize them are made. These conclusions follow from the analysis of the list of related factors: sociological, economic, political. Moreover, the influence of these aspects on the realization of such basic human rights as the right to reliable information and the right to a favorable environment, which, in turn, are closely interconnected with the implementation by state authorities of measures aimed at improving the quality and standard of living of the population of the Russian Federation, is studied. Besides, the collections are also considered as the main source of information in paleontological, archeological, breeding studies, which allow in the long term to ensure biological and food security and effective development of the agricultural complex of the Russian Federation. It is also necessary to note the rapidly growing potential of collections of human biological material in genetic genealogy, the study of a number of diseases (e.g., cancer), as well as the mechanism of CRISPR CaS-9 genetic editing, the so-called "genetic scissors".
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Misek, Sean, Aaron Fultineer, Jeremie Kalfon, Javad Noorbakhsh, Isabella Boyle, Joshua Dempster, Lia Petronio, et al. "Defining the landscape of cancer vulnerabilities that are engendered by germline genetic variation." In ASPET 2023 Annual Meeting Abstracts. American Society for Pharmacology and Experimental Therapeutics, 2023. http://dx.doi.org/10.1124/jpet.122.553030.

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Sato, Misako, Mitsutaka Kadota, Binwu Tang, Yu-an Yang, Mengge Shan, Jia Weng, Michael Welsh та ін. "Abstract B029: Dissecting out the tumor suppressor aspect of TGF-β in breast cancer using integrated genomics". У Abstracts: AACR Special Conference on Advances in Breast Cancer Research: Genetics, Biology, and Clinical Applications - October 3-6, 2013; San Diego, CA. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1557-3125.advbc-b029.

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Звіти організацій з теми "Cancer – Genetic aspects"

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Tipton, Kelley, Brian F. Leas, Emilia Flores, Christopher Jepson, Jaya Aysola, Jordana Cohen, Michael Harhay, et al. Impact of Healthcare Algorithms on Racial and Ethnic Disparities in Health and Healthcare. Agency for Healthcare Research and Quality (AHRQ), December 2023. http://dx.doi.org/10.23970/ahrqepccer268.

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Objectives. To examine the evidence on whether and how healthcare algorithms (including algorithm-informed decision tools) exacerbate, perpetuate, or reduce racial and ethnic disparities in access to healthcare, quality of care, and health outcomes, and examine strategies that mitigate racial and ethnic bias in the development and use of algorithms. Data sources. We searched published and grey literature for relevant studies published between January 2011 and February 2023. Based on expert guidance, we determined that earlier articles are unlikely to reflect current algorithms. We also hand-searched reference lists of relevant studies and reviewed suggestions from experts and stakeholders. Review methods. Searches identified 11,500 unique records. Using predefined criteria and dual review, we screened and selected studies to assess one or both Key Questions (KQs): (1) the effect of algorithms on racial and ethnic disparities in health and healthcare outcomes and (2) the effect of strategies or approaches to mitigate racial and ethnic bias in the development, validation, dissemination, and implementation of algorithms. Outcomes of interest included access to healthcare, quality of care, and health outcomes. We assessed studies’ methodologic risk of bias (ROB) using the ROBINS-I tool and piloted an appraisal supplement to assess racial and ethnic equity-related ROB. We completed a narrative synthesis and cataloged study characteristics and outcome data. We also examined four Contextual Questions (CQs) designed to explore the context and capture insights on practical aspects of potential algorithmic bias. CQ 1 examines the problem’s scope within healthcare. CQ 2 describes recently emerging standards and guidance on how racial and ethnic bias can be prevented or mitigated during algorithm development and deployment. CQ 3 explores stakeholder awareness and perspectives about the interaction of algorithms and racial and ethnic disparities in health and healthcare. We addressed these CQs through supplemental literature reviews and conversations with experts and key stakeholders. For CQ 4, we conducted an in-depth analysis of a sample of six algorithms that have not been widely evaluated before in the published literature to better understand how their design and implementation might contribute to disparities. Results. Fifty-eight studies met inclusion criteria, of which three were included for both KQs. One study was a randomized controlled trial, and all others used cohort, pre-post, or modeling approaches. The studies included numerous types of clinical assessments: need for intensive care or high-risk care management; measurement of kidney or lung function; suitability for kidney or lung transplant; risk of cardiovascular disease, stroke, lung cancer, prostate cancer, postpartum depression, or opioid misuse; and warfarin dosing. We found evidence suggesting that algorithms may: (a) reduce disparities (i.e., revised Kidney Allocation System, prostate cancer screening tools); (b) perpetuate or exacerbate disparities (e.g., estimated glomerular filtration rate [eGFR] for kidney function measurement, cardiovascular disease risk assessments); and/or (c) have no effect on racial or ethnic disparities. Algorithms for which mitigation strategies were identified are included in KQ 2. We identified six types of strategies often used to mitigate the potential of algorithms to contribute to disparities: removing an input variable; replacing a variable; adding one or more variables; changing or diversifying the racial and ethnic composition of the patient population used to train or validate a model; creating separate algorithms or thresholds for different populations; and modifying the statistical or analytic techniques used by an algorithm. Most mitigation efforts improved proximal outcomes (e.g., algorithmic calibration) for targeted populations, but it is more challenging to infer or extrapolate effects on longer term outcomes, such as racial and ethnic disparities. The scope of racial and ethnic bias related to algorithms and their application is difficult to quantify, but it clearly extends across the spectrum of medicine. Regulatory, professional, and corporate stakeholders are undertaking numerous efforts to develop standards for algorithms, often emphasizing the need for transparency, accountability, and representativeness. Conclusions. Algorithms have been shown to potentially perpetuate, exacerbate, and sometimes reduce racial and ethnic disparities. Disparities were reduced when race and ethnicity were incorporated into an algorithm to intentionally tackle known racial and ethnic disparities in resource allocation (e.g., kidney transplant allocation) or disparities in care (e.g., prostate cancer screening that historically led to Black men receiving more low-yield biopsies). It is important to note that in such cases the rationale for using race and ethnicity was clearly delineated and did not conflate race and ethnicity with ancestry and/or genetic predisposition. However, when algorithms include race and ethnicity without clear rationale, they may perpetuate the incorrect notion that race is a biologic construct and contribute to disparities. Finally, some algorithms may reduce or perpetuate disparities without containing race and ethnicity as an input. Several modeling studies showed that applying algorithms out of context of original development (e.g., illness severity scores used for crisis standards of care) could perpetuate or exacerbate disparities. On the other hand, algorithms may also reduce disparities by standardizing care and reducing opportunities for implicit bias (e.g., Lung Allocation Score for lung transplantation). Several mitigation strategies have been shown to potentially reduce the contribution of algorithms to racial and ethnic disparities. Results of mitigation efforts are highly context specific, relating to unique combinations of algorithm, clinical condition, population, setting, and outcomes. Important future steps include increasing transparency in algorithm development and implementation, increasing diversity of research and leadership teams, engaging diverse patient and community groups in the development to implementation lifecycle, promoting stakeholder awareness (including patients) of potential algorithmic risk, and investing in further research to assess the real-world effect of algorithms on racial and ethnic disparities before widespread implementation.
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