Artículos de revistas: "Genetic of cancer"

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Niendorf, Kristin Baker. "Genetic Library: Cancer Genetics". Journal of Genetic Counseling 11, n.º 5 (octubre de 2002): 429–34. http://dx.doi.org/10.1023/a:1016854001384.

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Gleich, Lyon L. y Frank N. Salamone. "Molecular Genetics of Head and Neck Cancer". Cancer Control 9, n.º 5 (septiembre de 2002): 369–78. http://dx.doi.org/10.1177/107327480200900502.

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Background Head and neck cancers have multiple genetic abnormalities that influence tumor behavior and may be useful in developing new treatments. Methods Genetic alterations implicated in head and neck cancer oncogenesis and behavior are reviewed, and molecular techniques for detection and treatment are evaluated. Results The large number of genetic changes present in head and neck cancer cells precludes meaningful use of simple molecular tests and treatments. Detection of abnormalities in multiple genes provides better prognostic information than the detection and assessment of single mutations. Screening tests that rely on amplification of genetic material present in bodily fluids are hindered by the genomic complexity of head and neck cancer. Introduction of genetic material into head and neck cancer cells for gene therapy has shown some efficacy. Conclusions Head and neck cancers comprise a complex genetic disease. Although much has been learned about the molecular genetics of head and neck cancers, continued study of multiple genes is critical for further progress. Gene therapy, although promising, must also overcome this complexity.

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Stankov, Karmen y Giovanni Romeo. "Cloning of the genes for non-medullary thyroid cancer: Methods and advances". Archive of Oncology 14, n.º 1-2 (2006): 30–34. http://dx.doi.org/10.2298/aoo0602030s.

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In last ten years, significant advances have occurred in thyroid endocrinology, as a consequence of the generalized use of molecular biology techniques. New genes involved in the development of thyroid cancer have been identified, which had a great impact on our understanding of thyroid cancer predisposition. All cancers are genetic in origin because they arise from mutations in a single somatic cell, but the genetic changes in sporadic cancers are confined to a particular tissue. In inherited cancers, a predisposing mutation is present in all somatic cells and in the germ line, which enables the transmission of risk to the next generation. Cancer genetics offers a model of how information on the genetics of inherited cancers could affect identification of individuals at increased genetic risk.

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Hamby, Lori y Constance A. Griffin. "Genetic Library Video Reviews: Cancer Genetics". Journal of Genetic Counseling 12, n.º 2 (abril de 2003): 185–92. http://dx.doi.org/10.1023/a:1022615408076.

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Benninger, Michael S., Daniel Vandyke, Carol Bradford y Thomas Carey. "Genetics of Head and Neck Cancer (Introduction)". Otolaryngology–Head and Neck Surgery 112, n.º 5 (mayo de 1995): P90. http://dx.doi.org/10.1016/s0194-5998(05)80212-8.

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Educational objectives: To review basic genetics and cytogenetics as they relate to human cancers and head and neck cancer and to become familiar with the basis of genetics of human cancer and successes in molecular and genetic research of squamous cell cancer.

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Woodman-Ross, Jacynda, Sierra O. Green, Jessica Corredor, Elissa Dodd-Eaton, Nathaniel Hernandez, Susan K. Peterson, Wenyi Wang y Banu K. Arun. "Abstract OT2-13-01: Willingness to Participate in a Trial Comparing Standard Genetic Counseling versus Genetic Counseling with Personalized Cancer Risks Estimates in Patients with Li-Fraumeni Syndrome". Cancer Research 83, n.º 5_Supplement (1 de marzo de 2023): OT2–13–01—OT2–13–01. http://dx.doi.org/10.1158/1538-7445.sabcs22-ot2-13-01.

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Abstract Background: Individuals with Li-Fraumeni Syndrome (LFS) have increased risk of developing breast cancer, sarcomas, brain tumors, leukemia, and other cancers throughout their lifetime. LFS is primarily caused by autosomal dominant germline mutations in the TP53 tumor suppressor gene. Due to the large number of cancers caused by LFS, and their variable age of presentation, each LFS family often presents very differently. Currently, standard genetic counseling for patients with LFS often involves general lifetime risk predictions for developing several primary cancers. At present, there are no standard tools available to help genetics providers obtain a personalized risk assessment for a patient with LFS based on their unique personal and family history data. To address this, the LFSPRO risk model was developed to estimate the likelihood of a proband having LFS, to provide cancer-specific risks of a first primary cancer, and to estimate risk of time to second primary cancer diagnosis by utilizing detailed personal and family history information. Specific Aims: This study aims to understand patients’ willingness to participate in a randomized trial comparing standard genetic counseling practice to personalized genetic counseling via LFSPRO risk estimates. Trial Design: Eligible patients or parents/guardians are invited via email to complete a survey assessing interest in a hypothetical clinical trial scenario where patients are randomized to receive one of two types of post-disclosure genetic counseling approaches: standard genetic counseling for TP53 results, involving generic risk predictions for developing cancers, or personalized risk information provided from LFSPRO. Following the hypothetical scenario, participants are asked about their perceived benefits and barriers to this research scenario and interest in receiving personalized risk results. Demographic information is also collected. Eligibility Criteria: Individuals who receive genetic counseling through MD Anderson Cancer Center genetics clinics specifically for TP53 genetic testing and who consent to undergo TP53 genetic testing or individuals who genetic testing already indicates a TP53 germline mutation are offered this survey. Patients must be 13 years or older to complete the survey, otherwise a parent/guardian may complete the survey on their behalf. Patients must have English fluency. Statistical methods: Descriptive statistics will be used to analyze the data and summarize the opinion of the participants. Accrual: Enrollment is set to open in July 2022. Currently, 157 patients have been identified to be invited to participate in the study. Funding: This research is supported by the Cancer Research and Prevention Institute of Texas. Contact: Jacynda Woodman-Ross, MS, CGC, The University of Texas MD Anderson Cancer Center, jawoodman@mdanderson.org Citation Format: Jacynda Woodman-Ross, Sierra O. Green, Jessica Corredor, Elissa Dodd-Eaton, Nathaniel Hernandez, Susan K. Peterson, Wenyi Wang, Banu K. Arun. Willingness to Participate in a Trial Comparing Standard Genetic Counseling versus Genetic Counseling with Personalized Cancer Risks Estimates in Patients with Li-Fraumeni Syndrome [abstract]. In: Proceedings of the 2022 San Antonio Breast Cancer Symposium; 2022 Dec 6-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2023;83(5 Suppl):Abstract nr OT2-13-01.

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Abdukhakimov, Abdulla Nusratillayevich y Muqaddas Tukhtabievna Tukhtaboeva. "Molecular Genetic Factors Of Breast Cancer Development (Review)". American Journal of Medical Sciences and Pharmaceutical Research 02, n.º 07 (31 de julio de 2020): 112–16. http://dx.doi.org/10.37547/tajmspr/volume02issue07-14.

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Lee, John, Arushi Tripathy, Tannaz Guivatchian, Erika Koeppe, Elena Stoffel y Wajd Al-Holou. "EPCO-21. IDENTIFYING FACTORS THAT PREDICT GENETIC PREDISPOSITION TO BRAIN TUMOR FORMATION". Neuro-Oncology 25, Supplement_5 (1 de noviembre de 2023): v128. http://dx.doi.org/10.1093/neuonc/noad179.0484.

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Abstract INTRODUCTION Increasing evidence suggests that glioma formation may have a greater hereditary component than initially thought. Identification of individuals with a genetic predisposition is critical for appropriate monitoring and treatment. OBJECTIVE To analyze the personal and family histories of patients with intrinsic brain tumors seen in a cancer genetics clinic to inform referral practices. METHODS A prospective database of cancer genetics data from a large multidisciplinary cancer genetics clinic was queried for brain tumors from 2007-2023. Genetic test results, age of brain cancer diagnosis, number/types of distinct cancers, oncologic family history, and personal and family history of cancer syndromes were recorded. Fisher’s exact tests and ANOVA were used for analysis. RESULTS Sixty-five patients with intrinsic brain tumors, which included 53 high and low grade gliomas, were identified. There were 33 males; the mean age of diagnosis was 34.6±23.4. Fifty-three (81.5%) had genetic testing performed. Of these, 19 (35.8%) were found to have germline pathogenic variants (PV), 10 (18.9%) had variants of unknown significance (VUS), and 24 (45.3%) were found to have no mutations. Patients with PVs were younger than patients with normal genetic screening (28.1 vs 41.5 years, p= 0.06), and patients with either PV or VUS were significantly younger (p= 0.04) than patients with normal screening. Regarding personal cancer history, patients with and without PVs had a similar history of personal cancers (p= 0.20). Regarding family history, only 1 patient with PV had a family history of brain cancer compared to 15 in patients with negative testing (5.3% vs 44.1%, p= 0.004). CONCLUSIONS Only younger age at presentation was identified as a predictor of a PV or VUS. A lack of personal/family history of cancer does not preclude a genetic predisposition to cancer. We recommend that younger patients with intrinsic brain tumors should be referred for genetic testing.

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Lahiri, Sayoni, Sara Pirzadeh-Miller, Kelsey Moriarty y Nisa Kubiliun. "Implementation of a Population-Based Cancer Family History Screening Program for Lynch Syndrome". Cancer Control 30 (abril de 2023): 107327482311750. http://dx.doi.org/10.1177/10732748231175011.

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Objectives Lynch syndrome increases risks for colorectal and other cancers. Though published Lynch syndrome cancer risk-management guidelines are effective for risk-reduction, the condition remains under-recognized. The Cancer Genetics Program at an academic medical center implemented a population-based cancer family history screening program, Detecting Unaffected Individuals with Lynch syndrome, to aid in identification of individuals with Lynch syndrome. Methods In this retrospective cohort study, simple cancer family history screening questionnaires were used to identify those at risk for Lynch syndrome. Program navigators triaged and educated those who screened positive about hereditary cancer, and genetic counseling and testing services, offering genetic counseling if eligible. Genetic counseling was provided primarily via telephone. Genetic counselors performed hereditary cancer risk assessment and offered genetic testing via hereditary cancer panels to those eligible. Remote service delivery models via telephone genetic counseling and at-home saliva testing were used to increase access to medical genetics services. Results This program screened 212,827 individuals, over half of whom were considered underserved, and identified 133 clinically actionable genetic variants associated with hereditary cancer. Of these, 47 (35%) were associated with Lynch syndrome while notably, 70 (53%) were not associated with hereditary colorectal cancer. Of 3,344 patients offered genetic counseling after initial triage, 2,441 (73%) elected to schedule the appointment and 1,775 individuals (73%) completed genetic counseling. Among underserved patients, telephone genetic counseling completion rates were significantly higher than in-person appointment completion rates ( P < .05). While remote service delivery improved appointment completion rates, challenges with genetic test completion using at-home saliva sample collection kits were observed, with 242 of 1592 individuals (15%) not completing testing. Conclusion Population-based cancer family history screening and navigation can help identify individuals with hereditary cancer syndromes across diverse patient populations, but logistics of certain downstream service delivery models can impact outcomes.

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Luo, Jian-Hua y Yan Ping Yu. "Genetic factors underlying prostate cancer". Expert Reviews in Molecular Medicine 5, n.º 12 (15 de abril de 2003): 1–26. http://dx.doi.org/10.1017/s1462399403006057.

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Prostate cancer is one of the leading causes of cancer-related death in the USA. In the past decade, tremendous progress has been made in the identification and understanding of the genetic factors related to prostate cancer development. Unlike many other types of cancers, only a small fraction of prostate cancer cases are aggressive and life-threatening. The factors related to prostate cancer development and progression appear complex and diverse. This review summarises some of the important findings in the areas of genome and gene expression abnormalities in prostate cancer, and aims to provide a comprehensive view of new developments in these areas.

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Ursu, Radu, Radu Alexandru Truica, Alexandra Cojocaru, Diana Prepelita, Lucian Pop, Viorica Radoi, Nicolae Bacalbasa y Irina Balescu. "Genetic factors involved in ovarian cancer". Romanian Medical Journal 69, S3 (20 de junio de 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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Lee, Siwon, Amal Gedleh, Jessica A. Hill, Seemi Qaiser, Yvonne Umukunda, Philip Odiyo, Grace Kitonyi y Helen Dimaras. "In Their Own Words: A Qualitative Study of Kenyan Breast Cancer Survivors’ Knowledge, Experiences, and Attitudes Regarding Breast Cancer Genetics". Journal of Global Oncology, n.º 4 (diciembre de 2018): 1–9. http://dx.doi.org/10.1200/jgo.17.00061.

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Introduction Breast cancer ranks among the most common adult cancers in Kenya. Individuals with a family history of the disease are at increased risk. Mutations most commonly associated with breast cancer affect BRCA1 and BRCA2; mutations in several other genes may also confer breast cancer risk. Genetic testing and counseling can help patients understand their risk and assist clinicians in choosing therapies. We aimed to uncover what patients know, experience, and think with regard to breast cancer genetics in Kenya. Methods Participants included breast cancer survivors age > 18 years. Participants completed a demographic questionnaire before participating in focus group discussions to uncover knowledge of, experiences with, and attitudes toward the genetics of breast cancer. Data were analyzed by inductive thematic analysis. Results Four focus groups were conducted. Participants had rudimentary knowledge about genetics and cancer development, and although they understood breast cancer could be familial, many suspected environmental factors causing spontaneous disease. They reported limited experience with counseling about genetic risk, perceiving that their physicians were too busy to provide comprehensive information. Many indicated they promoted cancer screening among family to promote early diagnosis. Participants expressed a need for more comprehensive counseling and access to genetic testing, recognizing the added clarity it would bring to their families’ risk of cancer. Conclusion Improved communication from health care teams could clarify the risk of cancer for affected families. The introduction of affordable genetic testing and counseling for breast cancer in Kenya is welcomed by survivors.

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Gheorghiu, Alfred Redalf Alain, Aurel Mironescu, Călin Pavel Cobelschi, Adrian Maier, Iulian Andrei Toader y Mircea Hogea. "Profilul genetic de risc la pacientele cu cancer mamar". Jurnal Medical Brasovean 2019, n.º 2 (24 de febrero de 2020): 34–39. http://dx.doi.org/10.31926/jmb.2019.2.4.

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Whitcomb, David C., Celeste A. Shelton y Randall E. Brand. "Genetics and Genetic Testing in Pancreatic Cancer". Gastroenterology 149, n.º 5 (octubre de 2015): 1252–64. http://dx.doi.org/10.1053/j.gastro.2015.07.057.

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Zawacki, Kristin L. "Information Sources: Cancer Genetics and Genetic Testing". Cancer Practice 8, n.º 4 (julio de 2000): 197–200. http://dx.doi.org/10.1046/j.1523-5394.2000.84002.x.

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Stopfer, Jill E. "Genetic counseling and clinical cancer genetics services". Seminars in Surgical Oncology 18, n.º 4 (junio de 2000): 347–57. http://dx.doi.org/10.1002/(sici)1098-2388(200006)18:4<347::aid-ssu10>3.0.co;2-d.

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Luzón-Toro, Berta, Raquel Fernández, Leticia Villalba-Benito, Ana Torroglosa, Guillermo Antiñolo y Salud Borrego. "Influencers on Thyroid Cancer Onset: Molecular Genetic Basis". Genes 10, n.º 11 (8 de noviembre de 2019): 913. http://dx.doi.org/10.3390/genes10110913.

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Thyroid cancer, a cancerous tumor or growth located within the thyroid gland, is the most common endocrine cancer. It is one of the few cancers whereby incidence rates have increased in recent years. It occurs in all age groups, from children through to seniors. Most studies are focused on dissecting its genetic basis, since our current knowledge of the genetic background of the different forms of thyroid cancer is far from complete, which poses a challenge for diagnosis and prognosis of the disease. In this review, we describe prevailing advances and update our understanding of the molecular genetics of thyroid cancer, focusing on the main genes related with the pathology, including the different noncoding RNAs associated with the disease.

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McCuaig, Jeanna M., Tracy L. Stockley, Patricia Shaw, Michael Fung-Kee-Fung, Alon D. Altman, James Bentley, Marcus Q. Bernardini et al. "Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap". Journal of Medical Genetics 55, n.º 9 (24 de julio de 2018): 571–77. http://dx.doi.org/10.1136/jmedgenet-2018-105472.

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The landscape of genetic testing in ovarian cancer patients has changed dramatically in recent years. The therapeutic benefits of poly ADP-ribose polymerase (PARP) inhibitors in treatment of BRCA1/2-related ovarian cancers has resulted in an increased demand and urgency for genetic testing results, while technological developments have led to widespread use of multi-gene cancer panels and development of tumour testing protocols. Traditional genetic counselling models are no longer sustainable and must evolve to match the rapid evolution of genetic testing technologies and developments in personalized medicine. Recently, representatives from oncology, clinical genetics, molecular genetics, pathology, and patient advocacy came together to create a national multi-disciplinary Canadian consortium. By aligning stakeholder interests, the BRCA Testing to Treatment (BRCA TtoT) Community of Practice aims to develop a national strategy for tumour and germline BRCA1/2 testing and genetic counselling in women with ovarian cancer. This article serves to provide an overview of the recent evolution of genetic assessment for BRCA1/2-associated gynecologic malignancies and outline a Canadian roadmap to facilitate change, improve genetic testing rates, and ultimately improve outcomes for hereditary ovarian cancer patients and their families.

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Garber, Judy E. y Kenneth Offit. "Hereditary Cancer Predisposition Syndromes". Journal of Clinical Oncology 23, n.º 2 (10 de enero de 2005): 276–92. http://dx.doi.org/10.1200/jco.2005.10.042.

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Cancer genetics is increasingly becoming integrated into the practice of modern medical oncology. The ability to distinguish a growing proportion of the 5% to 10% of all cancers that develop in individuals who have inherited a genetic mutation conferring heightened susceptibility to specific cancers may permit targeted efforts in cancer surveillance and prevention. While these individuals comprise a small proportion of the overall burden of cancer, strategies successful in reducing their remarkable cancer risks may be generalizable to the broader population. In this review, we highlight the most common hereditary cancer syndromes, most attributable to genes inherited in an autosomal dominant manner with incomplete penetrance, and a number of rare syndromes in which particular progress has been made. The prevalence, penetrance, tumor spectrum, and underlying genetic defects are discussed and summarized in a large table in which a more comprehensive enumeration of syndromes is provided.

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Dias, Amanda de Araújo, Jamille Lopes Helmer, Sílvia Karinny Brito Calandrini de Azevedo, Cassio Caldato, Ciane Martins de Oliveira, Rodrigo Canto Moreira, Carla Viana Dendasck y Euzébio de Oliveira. "Genetic and environmental risk factors for gastric cancer". Revista Científica Multidisciplinar Núcleo do Conhecimento 10, n.º 11 (9 de noviembre de 2016): 63–72. http://dx.doi.org/10.32749/nucleodoconhecimento.com.br/health/gastric-cancer.

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Gul, Sule Karabulut, Huseyin Tepetam, Gokhan Yaprak, Kayhan Basak y Ozlem Oruc. "Our Results of Genetic Mutation Analysis in Lung Cancer". Asian Pacific Journal of Health Sciences 5, n.º 4 (octubre de 2018): 159–63. http://dx.doi.org/10.21276/apjhs.2018.5.4.25.

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Han, Hyunho, Minyong Kang, Seok-Soo Byun y Seok Joong Yun. "Genetic Testing for Prostate Cancer, Urothelial Cancer, and Kidney Cancer". Journal of Urologic Oncology 21, n.º 2 (31 de julio de 2023): 128–39. http://dx.doi.org/10.22465/juo.234600340017.

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As genetic testing plays an increasingly salient role in the realm of cancer diagnosis, prognostication, and treatment, this review aims to elucidate the current landscape and future directions of genetic testing in genitourinary cancers, with a focus on prostate cancer, urothelial carcinoma, and renal cell carcinoma. With the increasing adoption of next-generation sequencing technology, the utilization and access to genetic testing in real-world settings have become critical for practicing urologists and genitourinary oncologists, especially after the approval of poly(ADP-ribose) polymerase inhibitors for prostate cancer and the utilization of immune checkpoint inhibitors. In this rapidly evolving field, this review underscores the clinical value of interpreting genetic variations and the importance of distinguishing between germline and somatic mutations, for whom testing can be prescribed, and which genes should be tested. While the current modus operandi predominantly relies on exome sequencing, we posit that the future of genetic testing in genitourinary cancers will see an expansion to encompass whole-genome sequencing, accounting for structural and regulatory variations that impact gene expression. In the upcoming era of liquid biopsies, we envisage an increase in noninvasive cancer genetic testing for the purposes of diagnosis, prognosis, treatment response, and progression monitoring, supplementing the gold-standard tissue biopsies that provide histologic information. Ultimately, thoroughly interpreting genetic testing results and the subsequent treatment implications necessitates a multidisciplinary approach. This review strives to offer urologists a comprehensive perspective on genetic testing in these prevalent urological cancers, contributing to improved diagnosis, prognosis, and treatment decision-making.

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van Engeland, Manon, Sarah Derks, Kim M. Smits, Gerrit A. Meijer y James G. Herman. "Colorectal Cancer Epigenetics: Complex Simplicity". Journal of Clinical Oncology 29, n.º 10 (1 de abril de 2011): 1382–91. http://dx.doi.org/10.1200/jco.2010.28.2319.

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Colorectal cancer (CRC) has predominantly been considered a genetic disease, characterized by sequential accumulation of genetic alterations. Growing evidence indicates that epigenetic alterations add an additional layer of complexity to the pathogenesis of CRC, and characterize a subgroup of colorectal cancers with a distinct etiology and prognosis. Epigenetic dysregulation in colorectal cancer is organized at multiple levels, involving DNA methylation, histone modifications, nucleosomal occupancy and remodeling, chromatin looping, and noncoding RNAs. Interactions between these processes and complex associations with genetic alterations have recently been unraveled. It appears that CRC epigenetics will be the paradigm for multistep carcinogenesis, as CRC genetics has been for the past three decades. This review integrates recent data on epigenetic regulation of gene expression in CRC and describes how the understanding of these processes will alter the management of CRC.

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Yu, Hongyao y Kari Hemminki. "Genetic epidemiology of colorectal cancer and associated cancers". Mutagenesis 35, n.º 3 (19 de agosto de 2019): 207–19. http://dx.doi.org/10.1093/mutage/gez022.

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Abstract We review here data on familial risk in colorectal cancer (CRC) generated from the Swedish Family-Cancer Database, the largest resource of its kind in the world. Although the concordant familial risk for CRC (i.e. CRC risk in families of CRC patients) has been reasonably well established, the studies on discordant familial risks (i.e. CRC risk in families with any other cancers) are rare. Because different cancers could be caused by shared genetic susceptibility or shared environment, data of associations of discordant cancers may provide useful information for identifying common risk factors. In analyses between any of 33 discordant cancers relative risks (RRs) for discordant cancers were estimated in families with increasing numbers of probands with CRC; in the reverse analyses, RRs for CRC were estimated in families with increasing numbers of probands with discordant cancers. In separate analyses, hereditary non-polyposis colorectal cancer (HNPCC) families were excluded from the study, based on HNPCC related double primary cancers, to assess the residual familial RRs. We further reviewed familial risks of colon and rectal cancers separately in search for distinct discordant associations. The reviewed data suggested that colon cancer was associated with a higher familial risk for CRC compared to rectal cancer. The previous data had reported associations of CRC with melanoma, thyroid and eye cancers. Nervous system cancer was only associated with colon cancer, and lung cancer only associated with rectal cancer. The reviewed data on discordant association may provide guidance to gene identification and may help genetic counseling.

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Lynch, Henry T. y Jane F. Lynch. "Breast cancer genetics: Family history, heterogeneity, molecular genetic diagnosis, and genetic counseling". Current Problems in Cancer 20, n.º 6 (noviembre de 1996): 329–65. http://dx.doi.org/10.1016/s0147-0272(96)80010-9.

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Lam, Clarissa, Adrianne Rose Mallen, Christine Marie Walko y Jing-Yi Chern. "Molecular testing patterns and implications for treatment at a cancer center." Journal of Clinical Oncology 38, n.º 15_suppl (20 de mayo de 2020): e13576-e13576. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.e13576.

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e13576 Background: Genetic testing has revolutionized the care of ovarian cancer, providing a potential for targeted therapies and cancer prevention through cascade testing. Previous historical control for genetic testing rate of 28.5% at our institution, this initiated a multilevel intervention to improve guideline concordant care. The main objective of this study is a descriptive analysis of genetic testing patterns with the implementation of a genetics tumor board (GTB) at an NCI comprehensive cancer center (CCC). Methods: All gynecologic oncology cancer patients who underwent somatic testing from 3/2019 to 1/2020 were included in gynecologic oncology GTB. A descriptive analysis was performed on the ovarian cancer patients. Information regarding patient demographics, cancer characteristics, treatment, and follow-up were obtained from the medical records. Results: There were a total of 81 patients included in GTB during this time period. Fifty-four of 81 (66.7%) received care at our CCC and 27 of 81 (33.3%) were seen as a second opinion case. The patients included in GTB were comprised of recurrent ovarian cancer cases and newly diagnosed ovarian cancer cases. Of the patients included in genetics tumor board, 58 of 81 (71.6%) of patients received both germline and somatic testing. Genetics referrals were placed for 16 of 23 (69%) of the patients who received somatic testing without subsequent germline testing. Twelve of 81 (14.8%) GTB patients were identified for clinical trials during this time period. Conclusions: Genetic testing has become a cornerstone to ovarian cancer care. Implementation of a genetics tumor board at our institution has increased rates of germline testing compared to historical controls. With genetic tumor board being made up of a third of patients seeking a second opinion, we are able to provide comprehensive care to such patients in the form of genetic counseling referrals and clinical trial opportunities. Genetics tumor board also appears to highlight the cohort of patients with the most aggressive cancers: high-grade, advanced stage, and high rates of recurrence. This can potentially improve care by providing an arena for a multidisciplinary discussion of our most complex patients. Ongoing studies with the implementation of our cancer pathways may help determine which modifiable factors can be targeted to help increase adherence to genetic testing recommendations as we continue to strive for guideline-based care.

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Epplein, Meira, Ksenia P. Koon, Scott D. Ramsey y John D. Potter. "Genetic Services for Familial Cancer Patients: A Follow-Up Survey of National Cancer Institute Cancer Centers". Journal of Clinical Oncology 23, n.º 21 (20 de julio de 2005): 4713–18. http://dx.doi.org/10.1200/jco.2005.00.133.

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Purpose Anecdotal reports suggest that the volume of services offered to individuals concerned with hereditary cancer risk has increased substantially in recent years. As a follow-up to our 1993 survey, we sought to determine how the scope and volume of genetic services has changed between 1993 and 2002. Methods We surveyed the 61 National Cancer Institute–designated cancer centers in operation in 2002 using an updated version of the questionnaire from 1993. Analysis included frequencies and summary statistics. Results The majority of cancer centers responding (46 of 56 centers; 82.1%) provided some genetic services for evaluation of familial cancer, which is a higher proportion than in 1993 (50%; P < .01). Almost all centers (42 of 46 centers; 91.3%) provided services not only to cancer patients and their families, but also to individuals concerned with risk, which is a change (P = .01) from 1993, when 64.7% of centers offered such services. In addition, increases have been found for most other measures of services rendered for familial genetic services. Conclusion As public awareness of cancer susceptibility genes has grown markedly in recent years, the demand has also grown for genetic services to assess familial cancer risk. Major deleterious genetic mutations are rare, and much of the current research in genetic variation focuses on higher prevalence variants that carry lower risks. This may suggest that testing for mutations will move from genetics clinics to primary care and specialty practices. Thus, it is unclear whether the scope and volume of cancer center genetics services will continue to grow as rapidly as they have over the last decade.

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Kochheiser, Makayla L., Toyin I. G. Aniagwu, Prisca O. Adejumo y Olufunmilayo I. Olopade. "Genetic Testing for Cancer Risk Assessment in Patients With Breast and Ovarian Cancer in Ibadan, Nigeria". Journal of Global Oncology 5, Supplement_1 (octubre de 2019): 4. http://dx.doi.org/10.1200/jgo.19.13000.

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PURPOSE Breast cancer is the leading cause of cancer-related death among women, and ovarian cancer has the highest case fatality rate of all gynecologic cancers. In Nigeria, approximately 80% of breast and ovarian cancer cases are diagnosed at advanced stages. Genetic testing has the potential to reduce the morbidity and mortality associated with late cancer diagnosis. The introduction of genetic testing for cancer risk assessment at University College Hospital (UCH), Ibadan will serve as a model for the rest of Nigeria. The objective of this study was to introduce genetic testing for cancer risk assessment in patients with breast and ovarian cancer in Ibadan, Nigeria and to determine the demographics of women undergoing testing and their perceptions concerning the benefits of and barriers to genetic testing. METHODS Patients with breast or ovarian cancer were recruited at UCH. All patients received genetic counseling and had the opportunity to consent to the Color Genomics Hereditary Cancer Panel Test, free of charge, after due ethical approval. Patients were tested for 30 gene mutations with known associations to eight hereditary cancers. After testing, patients completed a semistandardized questionnaire assessing their sociodemographic information, family cancer history, and perceived benefits and barriers to genetic testing. RESULTS Seven patients with ovarian cancer and 40 patients with breast cancer received genetic counseling, and all chose to undergo subsequent genetic testing. The average age at testing was 49 years, and the average age at cancer diagnosis was 47 years. Eight women reported a known family cancer history, and there were more perceived benefits than barriers to genetic testing. The genetic test results revealed 27 negative mutations, 16 variants of unknown significance, and four pathogenic mutations. CONCLUSION Patients with breast and ovarian cancer at UCH associate genetic testing with benefits for their care. These results suggest potential for growth and sustainability of genetic testing for cancer risk management in Nigeria.

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Moody, Emily, McCall Larson, Samantha Greenberg, Taylor Jump, Mckenzie Bell, Jesse Gygi, Lisa Garcia et al. "Impact of provider education on prostate cancer genetic counseling referrals." Journal of Clinical Oncology 40, n.º 6_suppl (20 de febrero de 2022): 59. http://dx.doi.org/10.1200/jco.2022.40.6_suppl.059.

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59 Background: Guidelines recommend germline genetic not only for men with advanced and metastatic prostate cancer but also those with NCCN-high risk disease. Many men harboring germline DNA repair defects would not have met criteria for testing under previous guidelines (Nicolosi et al, JAMA Oncol 2019). Knowledge of germline mutations is pertinent due to recent regulatory approval of PARP inhibitors olaparib and rucaparib and guides screening for first-degree relatives who are at increased risk for other cancers (Pritchard et al, NEJM 2016). Knowledge gaps for germline genetic testing have been previously described (Loeb et al, Cancer Treat Res Commun 2020). Through a series of educational sessions, we sought to increase utilization of appropriate genetic services for men with prostate cancer. Methods: Starting March 2021, virtual educational presentations were held for nurse navigators, urologists, and medical oncologists throughout our large community-based healthcare system. Surveys were distributed following each presentation to measure clinicians’ perception of their knowledge regarding prostate cancer genetics referrals on a five-step scale. Prostate cancer patient referral data was measured from September 2020 to August 2021, six months prior to and after the presentations. Results: Self-reported understanding of prostate cancer genetics referral practices following the educational presentations increased by an average of 1.7/5 steps (2.5 to 4.2/5) for physicians and 1.4/5 steps (2.9 to 4.1/5) for nurse navigators. From March to August 2021, there were 107 genetic referrals for prostate cancer (average 17.8 referrals/month) compared to 49 referrals from September 2020 to February 2021 (8.2 referrals/month). Conclusions: Prostate cancer genetics referrals increased 118% following educational presentations to urologists, medical oncologists, and nurse navigators. This correlates with an improvement in self-reported knowledge gaps. Provider education interventions may improve access to genetic services for men with prostate cancer. The increase in referrals likely does not account for all patients meeting criteria for germline testing. Work is ongoing to calculate the number of referrals as a proportion of the eligible population.[Table: see text]

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Mandich, P., P. Cavalli y B. Pasini. "Cancer genetic counselling". Annals of Oncology 16, n.º 1 (enero de 2005): 171. http://dx.doi.org/10.1093/annonc/mdi014.

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Lewis, J. J., S. Wang, S. Bartido, L. W. Weber, H. Ross y A. N. Houghton. "Genetic cancer vaccines". Melanoma Research 7, Supplement 1 (junio de 1997): S140. http://dx.doi.org/10.1097/00008390-199706001-00488.

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HT DUC. "Cancer Genetic Signatures". Biomedicine & Pharmacotherapy 63, n.º 5 (junio de 2009): 327–28. http://dx.doi.org/10.1016/j.biopha.2009.04.021.

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Osman, Mohammed A. "Genetic Cancer Ovary". Clinical Ovarian and Other Gynecologic Cancer 7, n.º 1-2 (diciembre de 2014): 1–7. http://dx.doi.org/10.1016/j.cogc.2014.12.006.

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Carlo, Maria I., Veda N. Giri, Channing J. Paller, Wassim Abida, Joshi J. Alumkal, Tomasz M. Beer, Himisha Beltran et al. "Evolving Intersection Between Inherited Cancer Genetics and Therapeutic Clinical Trials in Prostate Cancer: A White Paper From the Germline Genetics Working Group of the Prostate Cancer Clinical Trials Consortium". JCO Precision Oncology, n.º 2 (noviembre de 2018): 1–14. http://dx.doi.org/10.1200/po.18.00060.

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Purpose Advances in germline genetics, and related therapeutic opportunities, present new opportunities and challenges in prostate cancer. The Prostate Cancer Clinical Trials Consortium Germline Genetics Working Group was established to address genetic testing for men with prostate cancer, especially those with advanced disease undergoing testing for treatment-related objectives and clinical trials. Methods The Prostate Cancer Clinical Trials Consortium Germline Genetics Working Group met monthly to discuss the current state of genetic testing of men with prostate cancer for therapeutic or clinical trial purposes. We assessed current institutional practices, developed a framework to address unique challenges in this population, and identified areas of future research. Results Genetic testing practices in men with prostate cancer vary across institutions; however, there were several areas of agreement. The group recognized the clinical benefits of expanding germline genetic testing, beyond cancer risk assessment, for the goal of treatment selection or clinical trial eligibility determination. Genetic testing for treatment selection should ensure patients receive appropriate pretest education and consent and occur under auspices of a research study whenever feasible. Providers offering genetic testing should be able to interpret results and recommend post-test genetic counseling for patients. When performing tumor (somatic) genomic profiling, providers should discuss the potential for uncovering germline mutations and recommend appropriate genetic counseling. In addition, family members may benefit from cascade testing and early cancer screening and prevention strategies. Conclusion As germline genetic testing is incorporated into practice, further development is needed in establishing prompt testing for time-sensitive treatment decisions, integrating cascade testing for family, ensuring equitable access to testing, and elucidating the role of less-characterized germline DNA damage repair genes, individual gene-level biologic consequences, and treatment response prediction in advanced disease.

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Seferov, B. D., O. Yu Grickevich, A. E. Lazarev, E. P. Golubinskaya y P. E. Maksimova. "Molecular genetic characteristics of colorectal cancer". Malignant tumours 13, n.º 4 (13 de julio de 2023): 78–83. http://dx.doi.org/10.18027/2224-5057-2023-13-4-78-83.

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Colorectal cancer ranks third among all cancers. More than 1 million cases are registered annually in the world, half of which are fatal. The investigation of the molecular genetic mechanisms of tumors’ development is relevant, which is an important contribution to the prospect of determining the prognosis and treatment tactics. This review presents the current classification of the mechanisms of tumor progression in colorectal cancer.

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Frank, Steven A. "Genetic predisposition to cancer — insights from population genetics". Nature Reviews Genetics 5, n.º 10 (octubre de 2004): 764–72. http://dx.doi.org/10.1038/nrg1450.

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Carethers, John M. y Barbara H. Jung. "Genetics and Genetic Biomarkers in Sporadic Colorectal Cancer". Gastroenterology 149, n.º 5 (octubre de 2015): 1177–90. http://dx.doi.org/10.1053/j.gastro.2015.06.047.

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Stoffel, Elena M. y C. Richard Boland. "Genetics and Genetic Testing in Hereditary Colorectal Cancer". Gastroenterology 149, n.º 5 (octubre de 2015): 1191–203. http://dx.doi.org/10.1053/j.gastro.2015.07.021.

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Stickeler, Elmar y Ingo B. Runnebaum. "Genetic risk factors for familial ovarian cancer". British Menopause Society Journal 8, n.º 3 (1 de septiembre de 2002): 92–97. http://dx.doi.org/10.1258/136218002100321776.

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In Europe ovarian cancer represents the third most common cancer of the female genital tract, with 30,000 newly diagnosed patients per year. Family history is the most significant risk factor. Lifetime risk for ovarian cancer increases from 1.4% for women with a negative family history to 14.6-32.2% in women from affected families. About 5-10% of ovarian cancers are hereditary and supposed to occur in three different forms: hereditary breast and ovarian cancer syndrome (HBOC), site-specific hereditary ovarian cancer (HOC) and hereditary nonpolyposis colorectal cancer syndrome (HNPCC). HBOC and HOC account for 80-90% of the cases and are associated with inactivating germline mutations of the BRCA1 and BRCA2 genes. For BRCA1 and BRCA2 mutation carriers the cumulative risk by age 70 of developing ovarian cancer is 45-60% and 25-30%, respectively. Approximately 10-15% of familial ovarian cancers are related to the HNPCC syndrome with a cumulative ovarian cancer risk of 9% by age 70. Germline polymorphisms may further modify ovarian cancer risk. Bilateral prophylactic oophorectomy reduces the risk of developing ovarian cancer in HBOC and HOC families by 50%. Tubal ligation also significantly reduces the risk in BRCA1 mutation carriers (odds ratio 0.39). Knowledge of the genetic background provides an objective basis for individual risk assessment and prevention.

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Peters, Ulrike y Ian Tomlinson. "Utilizing Human Genetics to Develop Chemoprevention for Cancer—Too Good an Opportunity to be Missed". Cancer Prevention Research 17, n.º 1 (4 de enero de 2024): 7–12. http://dx.doi.org/10.1158/1940-6207.capr-22-0523.

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Abstract Large-scale genetic studies are reliably identifying many risk factors for disease in the general population. Several of these genetic risk factors encode potential drug targets, and genetics has already helped to introduce targeted agents for some diseases, an example being lipid-lowering drugs to reduce the incidence of cardiovascular disease. Multiple drugs have been developed to treat cancers based on somatic mutations and genomics, but in stark contrast, there seems to be a reluctance to use germline genetic data to develop drugs to prevent malignancy, despite the large numbers of people who could benefit, the potential for lowering cancer rates, and the widespread current use of non-pharmaceutical measures to reduce cancer risk factors such as tobacco, alcohol, and infectious diseases. We argue that concerted efforts for cancer prevention based on genetics, including genes influenced by common polymorphisms that modulate cancer risk, are urgently needed. There are enormous, yet underutilized, opportunities to develop novel targeted agents for chemoprevention of cancer based on human germline genetics. Such efforts are likely to require the support of a dedicated funding program by national and international agencies. See related commentary by Winham and Sherman, p. 13

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Offit, Kenneth, Kelly Kohut, Bartholt Clagett, Eve A. Wadsworth, Kelly J. Lafaro, Shelly Cummings, Melody White, Michal Sagi, Donna Bernstein y Jessica G. Davis. "Cancer Genetic Testing and Assisted Reproduction". Journal of Clinical Oncology 24, n.º 29 (10 de octubre de 2006): 4775–82. http://dx.doi.org/10.1200/jco.2006.06.6100.

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Purpose Because of increasing uptake of cancer genetic testing and the improving survival of young patients with cancer, health care practitioners including oncologists will increasingly be asked about options for assisted reproduction by members of families affected by hereditary cancer syndromes. Among these reproductive options, preimplantation genetic diagnosis (PGD) offers the opportunity to select embryos without familial cancer-predisposing mutations. Methods A review of the published literature supplemented by a survey of PGD centers in the United States. Results Prenatal diagnosis and/or embryo selection after genetic testing has already been performed in the context of more than a dozen familial cancer syndromes, including the common syndromes of genetic predisposition to colon and breast cancer. Conclusion While constituting new reproductive options for families affected by cancer, the medical indications and ethical acceptance of assisted reproductive technologies for adult-onset cancer predisposition syndromes remain to be defined. Continued discussion of the role of PGD in the reproductive setting is needed to inform the responsible use of these technologies to decrease the burden of heritable cancers.

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Lynch, Henry T. y Jane F. Lynch. "The Lynch Syndrome: Melding Natural History and Molecular Genetics to Genetic Counseling and Cancer Control". Cancer Control 3, n.º 1 (enero de 1996): 13–19. http://dx.doi.org/10.1177/107327489600300101.

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Hereditary nonpolyposis colorectal cancer (HNPCC), also referred to as Lynch syndromes I and II, is an autosomal, dominantly inherited disorder that accounts for approximately 5% of all colorectal cancers. While colorectal cancer is the most frequently occurring malignancy in HNPCC, other types of cancer occur with increased statistical significance. A better understanding of its natural history, particularly early age of onset and the pattern of multiple primary cancer excess, is essential for the diagnosis and management of HNPCC.

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Giri, Veda N., Laura Gross, Heather H. Cheng, Jessica Russo, Channing Judith Paller, Jennifer M. Johnson, Emily Steinberger Weg y Stacy Loeb. "Virtual genetics board for enhancing knowledge and practice of prostate cancer genetic testing: The ENGAGEMENT study." Journal of Clinical Oncology 40, n.º 6_suppl (20 de febrero de 2022): 184. http://dx.doi.org/10.1200/jco.2022.40.6_suppl.184.

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184 Background: With the increasing indications for germline testing for prostate cancer (PCA), there is a growing need for a spectrum of providers to develop working knowledge and understand considerations of germline testing and genetic counseling. A virtual genetics board was developed to provide case-based discussion of PCA germline testing, standard of care and clinical trial management, hereditary cancer management, and genetic counseling. Methods: A virtual genetics board was launched including experts in GU medical oncology, prostate cancer genetics, radiation oncology, urology, clinical trials, genetic counseling, and molecular oncology. Conferences are held monthly, with cases covering metastatic PCA, high-risk disease, early-stage PCA, or PCA screening. Participants complete a baseline survey of demographic information and cancer genetics knowledge. Post-conference survey includes retaking knowledge questions and feedback on cases and Zoom format. Results: At the time of this report, 57 participants have engaged in the virtual genetics board. Participants include genetic counselors (21%), nurse practitioners (21%), medical oncologists (14%), researchers/scientists (14%), nurses (9%), urologists (5%), radiation oncologists (4%), and other specialties. Practice settings include academic centers (49%), public hospitals (16%), private hospitals (11%), and other settings. The baseline survey was completed by 55 participants, and post-conference survey by 34 participants. Knowledge scores increased regarding cancer inheritance, rates of mutations in metastatic PCA, BRCA2-related cancers, risk of PCA for HOXB13 carriers, and risk for PCA in African American males. Feedback was positive, with over 90% favorable responses on usability of technology, usefulness of case discussions, and relevance to informational needs. Conclusions: Initial results support a virtual genetics board to increase PCA genetic evaluation knowledge. The ENGAGEMENT study is ongoing with monthly live case discussions that are also recorded for on-demand viewing; registration is available at www.prostategenetics.com/engagement.[Table: see text]

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Fenton, Mary Anne, Tara Szyamnski, Kimberly Perez, Cindy Benson y Chanika Phornphutkul. "Breast cancer genetic risk evaluation and referral for assessment." Journal of Clinical Oncology 31, n.º 31_suppl (1 de noviembre de 2013): 75. http://dx.doi.org/10.1200/jco.2013.31.31_suppl.75.

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75 Background: ASCO Quality Oncology Practice Initiative (QOPI) provides tools for oncology practices to assess quality and adherence to clinical guidelines. Following each data submission a QOPI measures summary report is published providing practices the opportunity to compare themselves to QOPI Aggregates. In 2011, QOPI initiated a more stringent evaluation of family history documentation, which would improve rates of referral to genetic counseling for breast and colon cancer. Methods: A review of QOPI measure summary reports is performed by Rhode Island Hospital’s (RIH) Comprehensive Cancer Center Quality Improvement Team after each round of chart abstraction. Following review of QOPI practice results for genetic evaluation in 2011, our interventions included development and implementation of a 3 generation maternal and paternal family history intake form, genetics referral form with criteria to refer patients for genetic evaluation and initiation of a Genetics Clinic on site at the Cancer Center. Results: Presented is a summary of QOPI results for the Breast Cancer measures of complete family history documented and Genetic testing addressed appropriately. Conclusions: Our interventions included a patient intake form, genetics referral form with criteria to refer patients and a Genetics Clinic on site at the Cancer Center. The institution of a patient intake form resulted in a 19-fold improvement in complete family history documentation. The genetics referral form and establishment of an on-site Genetics clinic resulted in a 10% increase in referrals for genetic risk assessment. In spite of these interventions review of our Genetic Risk Evaluation data is notable for a 39% no show rate for the genetic risk assessment appointments. [Table: see text]

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Nowshin, Waseka. "Understanding the Hereditary Factors in Cancer- Recent Insights and Developments: An Updated Review". Journal of Ad-din Women's Medical College 11, n.º 2 (10 de julio de 2023): 48–57. http://dx.doi.org/10.3329/jawmc.v11i2.70511.

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Background: Although cancer (Ca) etiology can be multifactorial, it is nearly universally intertwined with genetic mutations that instigate tumor genesis or progression. This updated review aims at describing if this dispute remains meaningful based on a thorough literature survey. Methodology: This updated review was conducted over the last 2.5 decades using 3 (three) search engines: Web of Science (WoS), Pubmed and Science direct that encompassed all associated information and hypothetical considerations, globally, utilizing information from 1998 through 2022. All such, concepts, logically deducted explanations and scientifically assumed points if Ca remains hereditary is the main focus of this review. Results/ Findings: This appraisal on cancer, though yielded some instances of hereditariness in origin, mostly remains of genetic origin. Reportedly, cancers can be passed down from one family member to another through genes, and, may cause by genetic mutation present in eggs or sperms cell during fertilization which are actually considered as hereditary cancer, like breast, colon, and prostate cancer, as well as less common cancers, viz., pancreatic and ovarian cancer. Therefore, understanding the hereditary factors of Ca is critical not only for assessing the genetic contribution to cancer, but also for designing preventive and therapeutic strategies. It allows identifying people who are at a higher risk due to family history and/or genetic makeup, allow early detection through improved surveillance and, more importantly, for tailored therapeutic modality. By addressing recent advancement, this review will provide an overview on the hereditary factors of cancers and/or raising awareness on significant role of development in Ca genetics. The Journal of Ad-din Women's Medical College; Vol. 11 (2), July 2023; p 48-57

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Michor, Franziska. "Chromosomal instability and human cancer". Philosophical Transactions of the Royal Society B: Biological Sciences 360, n.º 1455 (29 de marzo de 2005): 631–35. http://dx.doi.org/10.1098/rstb.2004.1617.

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Genetic instability is a defining feature of human cancer. The main type of genetic instability, chromosomal instability (CIN), enhances the rate of gross chromosomal changes during cell division. CIN is brought about by mutations of CIN genes, i.e. genes that are involved in maintaining the genomic integrity of the cell. A major question in cancer genetics is whether genetic instability is a cause and hence a driving force of tumorigenesis. A mathematical framework for studying the somatic evolution of cancer sheds light onto the causal relations between CIN and human cancer.

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Lim, Yoong Wearn, Haiyin Chen-Harris, Oleg Mayba, Steve Lianoglou, Arthur Wuster, Tushar Bhangale, Zia Khan et al. "Germline genetic polymorphisms influence tumor gene expression and immune cell infiltration". Proceedings of the National Academy of Sciences 115, n.º 50 (21 de noviembre de 2018): E11701—E11710. http://dx.doi.org/10.1073/pnas.1804506115.

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Cancer immunotherapy has emerged as an effective therapy in a variety of cancers. However, a key challenge in the field is that only a subset of patients who receive immunotherapy exhibit durable response. It has been hypothesized that host genetics influences the inherent immune profiles of patients and may underlie their differential response to immunotherapy. Herein, we systematically determined the association of common germline genetic variants with gene expression and immune cell infiltration of the tumor. We identified 64,094 expression quantitative trait loci (eQTLs) that associated with 18,210 genes (eGenes) across 24 human cancers. Overall, eGenes were enriched for their being involved in immune processes, suggesting that expression of immune genes can be shaped by hereditary genetic variants. We identified the endoplasmic reticulum aminopeptidase 2 (ERAP2) gene as a pan-cancer type eGene whose expression levels stratified overall survival in a subset of patients with bladder cancer receiving anti–PD-L1 (atezolizumab) therapy. Finally, we identified 103 gene signature QTLs (gsQTLs) that were associated with predicted immune cell abundance within the tumor microenvironment. Our findings highlight the impact of germline SNPs on cancer-immune phenotypes and response to therapy; and these analyses provide a resource for integration of germline genetics as a component of personalized cancer immunotherapy.

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Hodan, Rachel, Victor Ritter, Summer S. Han, Shilpa Narayan, Mina Satoyoshi y Allison W. Kurian. "Timing of genetic testing referral and genetic testing results in patients with multiple primary cancers." Journal of Clinical Oncology 42, n.º 16_suppl (1 de junio de 2024): 10592. http://dx.doi.org/10.1200/jco.2024.42.16_suppl.10592.

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10592 Background: An individual diagnosed with a metachronous or synchronous cancer that arises independently, not due to recurrence or metastasis, has multiple primary cancers (MPC). Practice guidelines recommend germline genetic testing based on specific combinations of primary cancers and ages of diagnoses but do not recommend testing for all patients with MPC. In prior work (PubMed ID 37276540), we found that patients with breast cancer are more likely to receive testing than patients with other primary cancer types. Here, we evaluated whether a first breast cancer was more likely than another first cancer type to prompt testing referral. Methods: Using Oncoshare, a breast cancer research database that integrates data from electronic medical records and the California Cancer Registry, we identified female patients with MPC diagnosed between January 2000 and June 2023 with breast cancer as either the first or second cancer and seen at Stanford University. We analyzed testing rates after first vs. second cancer diagnosis and the yield of pathogenic variants (PV). We evaluated the association between the receipt of genetic testing and the timing of breast cancer (1st or 2nd), using both univariate and multivariable logistic regression that adjusted for age at first diagnosis, race/ethnicity, and time between the first and second diagnoses. Results: 1,069 patients met the study eligibility; 75% were non-Hispanic White, and 73% had breast as the first cancer. 342 (32%) patients had testing, and 113 (33%) had at least one PV. Most patients had testing after the first cancer (44%, n=150) or after the second cancer (48%, n=165) (Table). Those with breast cancer as their first primary tended to have a higher testing rate, (OR 1.62, 95% CI 0.9-3.0), however, the statistical significance of this association was attenuated in the multivariable model with more parameters (P=0.11), possibly due to small sample size. Overall PV yield (33%) was high, consistent with a tertiary referral center. Conclusions: In this academic clinic-based sample of patients with MPC, we observed a higher testing rate when breast vs. another cancer was the first primary although it did not reach statistical significance. Additional research is needed to validate this finding in a larger cohort and determine whether similar referral patterns are observed in community practice, where most U.S. patients receive cancer care. [Table: see text]

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Santos, Lauren G., Tatyana Buzdnitskaya, Bradley A. Rolf, William Souza, Mark Sienko, Jose Alberto Ruiz-Bonilla, Binay Shah et al. "Assessment of a Peer Physician Coaching Partnership Between a Designated Cancer Center Genetics Service and a Community Cancer Network Hospital". JAMA Network Open 6, n.º 3 (6 de marzo de 2023): e231723. http://dx.doi.org/10.1001/jamanetworkopen.2023.1723.

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BackgroundPatients with cancer seen in rural and underserved areas disproportionately face barriers to access genetic services. Genetic testing is critical to inform treatment decisions, for early detection of another cancer, and to identify at-risk family members who may benefit from screening and prevention.ObjectiveTo examine medical oncologists’ genetic testing ordering trends for patients with cancer.Design, Setting, and ParticipantsThis prospective quality improvement study was performed in 2 phases over 6 months between August 1, 2020, and January 31, 2021, at a community network hospital. Phase 1 focused on observation of clinic processes. Phase 2 incorporated peer coaching from cancer genetics experts for medical oncologists at the community network hospital. The follow-up period lasted 9 months.Main Outcomes and MeasuresThe number of genetic tests ordered was compared between phases.ResultsThe study included 634 patients (mean [SD] age, 71.0 [10.8] years [range, 39-90 years]; 409 women [64.5%]; 585 White [92.3%]); 353 (55.7%) had breast cancer, 184 (29.0%) had prostate cancer, and 218 (34.4%) had a family history of cancer. Of the 634 patients with cancer, 29 of 415 (7.0%) received genetic testing in phase 1, and 25 of 219 (11.4%) received genetic testing in phase 2. Of the 29 patients who received testing in phase 1, 20 (69.0%) had germline genetic testing; 23 of 25 patients (92.0%) had germline genetic testing in phase 2. Uptake of germline genetic testing increased by 23.0% between phases, but the difference was not statistically significant (P = .06). Uptake of germline genetic testing was highest among patients with pancreatic cancer (4 of 19 [21.1%]) and ovarian cancer (6 of 35 [17.1%]); the National Comprehensive Cancer Network (NCCN) recommends offering genetic testing to all patients with pancreatic cancer and ovarian cancer.Conclusions and RelevanceThis study suggests that peer coaching from cancer genetics experts was associated with an increase in ordering of genetic testing by medical oncologists. Efforts made to (1) standardize gathering of personal and family history of cancer, (2) review biomarker data suggestive of a hereditary cancer syndrome, (3) facilitate ordering tumor and/or germline genetic testing every time NCCN criteria are met, (4) encourage data sharing between institutions, and (5) advocate for universal coverage for genetic testing may help realize the benefits associated with precision oncology for patients and their families seeking care at community cancer centers.

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Yaffe, Michael B. "Why geneticists stole cancer research even though cancer is primarily a signaling disease". Science Signaling 12, n.º 565 (22 de enero de 2019): eaaw3483. http://dx.doi.org/10.1126/scisignal.aaw3483.

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Genetic approaches to cancer research have dramatically advanced our understanding of the pathophysiology of this disease, leading to similar genetics-based approaches for precision therapy, which have been less successful. Reconfiguring and adapting the types of technologies that underlie genetic research to dissect tumor cell signaling in clinical samples may offer an alternative road forward.

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