Recent Advances in Genetic Testing and Clinical Management of Hereditary Breast and Ovarian Cancer (HBOC) in India.

Λεπτομέρειες βιβλιογραφικής εγγραφής
Τίτλος:	Recent Advances in Genetic Testing and Clinical Management of Hereditary Breast and Ovarian Cancer (HBOC) in India.
Συγγραφείς:	Sherigar P; Department of Medical Oncology, Manipal Comprehensive Cancer Care Centre, Kasturba Medical College (KMC), Manipal Academy of Higher Education, Manipal, Karnataka, India., Kedlaya Herga S; Department of Public Health Genomics, Manipal School of Life Sciences, Manipal Academy of Higher Education, Manipal, Karnataka, India., Pai A; Department of Medical Oncology, Manipal Comprehensive Cancer Care Centre, Kasturba Medical College (KMC), Manipal Academy of Higher Education, Manipal, Karnataka, India., Mailankody S; Department of Medical Oncology, Manipal Comprehensive Cancer Care Centre, Kasturba Medical College (KMC), Manipal Academy of Higher Education, Manipal, Karnataka, India., Udupa KS; Department of Medical Oncology, Manipal Comprehensive Cancer Care Centre, Kasturba Medical College (KMC), Manipal Academy of Higher Education, Manipal, Karnataka, India.
Πηγή:	Cancer medicine [Cancer Med] 2026 Jul; Vol. 15 (7), pp. e71497.
Τύπος έκδοσης:	Journal Article; Review
Γλώσσα:	English
Στοιχεία περιοδικού:	Publisher: John Wiley & Sons Ltd Country of Publication: United States NLM ID: 101595310 Publication Model: Print Cited Medium: Internet ISSN: 2045-7634 (Electronic) Linking ISSN: 20457634 NLM ISO Abbreviation: Cancer Med Subsets: MEDLINE
Imprint Name(s):	Original Publication: [Malden, MA] : John Wiley & Sons Ltd., c2012-
Ιατρικοί όροι (MeSH):	Genetic Testing/methods , Hereditary Breast and Ovarian Cancer Syndrome/genetics , Hereditary Breast and Ovarian Cancer Syndrome/diagnosis , Hereditary Breast and Ovarian Cancer Syndrome/therapy , Hereditary Breast and Ovarian Cancer Syndrome*/epidemiology, India/epidemiology ; Ovarian Neoplasms/genetics ; BRCA2 Protein/genetics ; BRCA1 Protein/genetics ; Humans ; Female ; Genetic Predisposition to Disease ; Genetic Counseling ; Mutation ; Disease Management
Περίληψη:	Background: Hereditary breast and ovarian cancer (HBOC) syndromes, responsible for 5%-10% of all breast and ovarian cancers in the general population, are largely associated with pathogenic variants of the BRCA1 and BRCA2 genes. Yet, the role of other cancer susceptibility genes highlights the genetic etiology of HBOC as complex, thus requiring thorough investigation beyond these main mutations, highlighting a need for a comprehensive genetic assessment in disease management strategies. Summary: In India, advances in genetic research and clinical management have significantly impacted the knowledge of HBOC. A definitive prevalence of BRCA1/2 mutations among Indian populations has catalyzed the adoption of genetic counseling for precision diagnosis and treatment strategies in recent times, with collateral support extended from communities among oncologists, geneticists, and reproductive medicine specialists. The integration of next-generation sequencing and multiplex gene panels creates a platform for identifying high-risk subjects, leading to individualized care pathways and enhanced disease management plans. These programs have increased access to essential services such as genetic counseling, multidisciplinary management, and fertility preservation to provide holistic care to HBOC patients. Key Message: Future efforts should explore further the genetic heterogeneity of HBOC in Indian populations. There needs to be wider access to genetic testing and counseling services, and the implementation of strong, ethical policy guidelines for equitable use of genetic information. Through the creation of innovative, collaborative methods, these measures have tremendous potential to improve patient care, early detection, and outcomes for individuals affected by HBOC in India. (© 2026 The Author(s). Cancer Medicine published by John Wiley & Sons Ltd.)
References:	C. Tran, H. Diaz‐Ayllon, D. Abulez, S. Chinta, M. Y. Williams‐Brown, and N. Desravines, “Gynecologic Cancer Screening and Prevention: State of the Science and Practice,” Current Treatment Options in Oncology 27 (2025): 1–2. Z. Khazaei, S. M. Namayandeh, R. Beiranvand, H. Naemi, S. M. Bechashk, and E. Goodarzi, “Worldwide Incidence and Mortality of Ovarian Cancer and Human Development Index (HDI): GLOBOCAN Sources and Methods 2018,” Journal of Preventive Medicine and Hygiene 62, no. 1 (2021): E174–E184. R. Yoshida, “Hereditary Breast and Ovarian Cancer (HBOC): Review of Its Molecular Characteristics, Screening, Treatment, and Prognosis,” Breast Cancer 28, no. 6 (2021): 1167–1180. A. Bouras, S. Guidara, M. Leone, et al., “Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort,” Cancers 15, no. 13 (2023): 3420. H. Kobayashi, S. Ohno, Y. Sasaki, and M. Matsuura, “Hereditary Breast and Ovarian Cancer Susceptibility Genes,” Oncology Reports 30, no. 3 (2013): 1019–1029. R. S. Chamseddine, C. Wang, K. Yin, et al., “Penetrance of Male Breast Cancer Susceptibility Genes: A Systematic Review,” Breast Cancer Research and Treatment 191, no. 1 (2022): 31–38. J. Moretta, P. Berthet, V. Bonadona, et al., “The French Genetic and Cancer Consortium Guidelines for Multigene Panel Analysis in Hereditary Breast and Ovarian Cancer Predisposition,” Bulletin du Cancer 105, no. 10 (2018): 907–917. L. Castéra, V. Harter, E. Muller, et al., “Landscape of Pathogenic Variations in a Panel of 34 Genes and Cancer Risk Estimation From 5131 HBOC Families,” Genetics in Medicine 20, no. 12 (2018): 1677–1686. S. M. Caputo, L. Golmard, M. Léone, et al., “Classification of 101 BRCA1 and BRCA2 Variants of Uncertain Significance by Cosegregation Study: A Powerful Approach,” American Journal of Human Genetics 108, no. 10 (2021): 1907–1923. S. S. Buys, J. F. Sandbach, A. Gammon, et al., “A Study of Over 35,000 Women With Breast Cancer Tested With a 25‐Gene Panel of Hereditary Cancer Genes,” Cancer 123, no. 10 (2017): 1721–1730. F. Aloraifi, M. R. Boland, A. J. Green, and J. G. Geraghty, “Gene Analysis Techniques and Susceptibility Gene Discovery in Non‐BRCA1/BRCA2 Familial Breast Cancer,” Surgical Oncology 24, no. 2 (2015): 100–109. M. Suszynska, M. Ratajska, and P. Kozlowski, “BRIP1, RAD51C, and RAD51D Mutations Are Associated With High Susceptibility to Ovarian Cancer: Mutation Prevalence and Precise Risk Estimates Based on a Pooled Analysis of~30,000 Cases,” Journal of Ovarian Research 13, no. 1 (2020): 50. A. Desmond, A. W. Kurian, M. Gabree, et al., “Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment,” JAMA Oncology 1, no. 7 (2015): 943–951. A. Kwong, “Genetic Testing for Hereditary Breast Cancer in Asia—Moving Forward,” Chinese Clinical Oncology 5, no. 4 (2016): 47, https://doi.org/10.21037/cco.2016.06.04. N. Tung, C. Battelli, B. Allen, et al., “Frequency of Mutations in Individuals With Breast Cancer Referred for BRCA1 and BRCA2 Testing Using Next‐Generation Sequencing With a 25‐Gene Panel,” Cancer 121, no. 1 (2015): 25–33, https://doi.org/10.1002/cncr.29010. M. B. Daly, T. Pal, M. P. Berry, et al., “Genetic/Familial High‐Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology,” Journal of the National Comprehensive Cancer Network 19, no. 1 (2021): 77–102, https://doi.org/10.6004/jnccn.2021.0001. J. Balmaña, O. Díez, I. T. Rubio, and F. Cardoso, “BRCA in Breast Cancer: ESMO Clinical Practice Guidelines,” Annals of Oncology 22, no. S6 (2011): vi31–vi34, https://doi.org/10.1093/annonc/mdr373. H. Sung, J. Ferlay, R. L. Siegel, et al., “Global Cancer Statistics 2020: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries,” CA: A Cancer Journal for Clinicians 71, no. 3 (2021): 209–249, https://doi.org/10.3322/caac.21660. A. Rungta, A. Kapoor, G. Redkar, et al., “Implementing Genetics Clinic for Hereditary Cancer in Resource‐Constrained Settings: A Narrative Review,” Journal of Community Genetics 17, no. 1 (2025): 14, https://doi.org/10.1007/s12687‐025‐00849‐5. V. P. Selvakumar, S. Garg, J. Kaur, et al., “Genetic Testing for Hereditary Breast and Ovarian Cancer in Indian Population: A Single Institutional Study,” Journal of Clinical Oncology 37 (2019): e13153, https://doi.org/10.1200/JCO.2019.37.15_suppl.e13153. C. Forbes, D. Fayter, S. de Kock, and R. G. Quek, “A Systematic Review of International Guidelines and Recommendations for the Genetic Screening, Diagnosis, Genetic Counseling, and Treatment of BRCA‐Mutated Breast Cancer,” Cancer Management and Research 11 (2019): 2321–2337. T. McDevitt, M. Durkie, N. Arnold, et al., “EMQN Best Practice Guidelines for Genetic Testing in Hereditary Breast and Ovarian Cancer,” European Journal of Human Genetics 32, no. 5 (2024): 479–488. H. Malhotra, P. Kowtal, N. Mehra, et al., “Genetic Counseling, Testing, and Management of HBOC in India: An Expert Consensus Document From Indian Society of Medical and Pediatric Oncology,” JCO Global Oncology 6 (2020): 991–1008. A. Meindl, N. Ditsch, K. Kast, K. Rhiem, and R. K. Schmutzler, “Hereditary Breast and Ovarian Cancer: New Genes, New Treatments, New Concepts,” Deutsches Ärzteblatt International 108, no. 19 (2011): 323. X. Zeng, C. Liu, J. Yao, et al., “Breast Cancer Stem Cells, Heterogeneity, Targeting Therapies and Therapeutic Implications,” Pharmacological Research 163 (2021): 105320. J. M. Hall, M. K. Lee, B. Newman, et al., “Linkage of Early‐Onset Familial Breast Cancer to Chromosome 17q21,” Science 250, no. 4988 (1990): 1684–1689. X. Yu, C. C. Chini, M. He, G. Mer, and J. Chen, “The BRCT Domain Is a Phospho‐Protein Binding Domain,” Science 302, no. 5645 (2003): 639–642. G. Chatterjee, J. Jimenez‐Sainz, T. Presti, T. Nguyen, and R. B. Jensen, “Distinct Binding of BRCA2 BRC Repeats to RAD51 Generates Differential DNA Damage Sensitivity,” Nucleic Acids Research 44, no. 11 (2016): 5256–5270. I. Gorodetska, I. Kozeretska, and A. Dubrovska, “BRCA Genes: The Role in Genome Stability, Cancer Stemness and Therapy Resistance,” Journal of Cancer 10, no. 9 (2019): 2109–2127. K. C. Kurnit, G. F. Fleming, and E. Lengyel, “Updates and New Options in Advanced Epithelial Ovarian Cancer Treatment,” Obstetrics & Gynecology 137, no. 1 (2021): 108–121. R. Chikkala, D. Bhayal, N. Rani, R. Modali, K. Bhatia, and B. Dubey, “Mutational Landscape of BRCA Gene Mutations in Indian Breast Cancer Patients: Retrospective Insights From a Diagnostic Lab,” Egyptian Journal of Medical Human Genetics 25, no. 1 (2024): 101. S. Gupta, S. Rajappa, S. Advani, et al., “Prevalence of BRCA1 and BRCA2 Mutations Among Patients With Ovarian, Primary Peritoneal, and Fallopian Tube Cancer in India: A Multicenter Cross‐Sectional Study,” JCO Global Oncology 7 (2021): 849–861. International Agency for Research on Cancer (IARC), GLOBOCAN 2022: India Fact Sheet (World Health Organization, 2024), https://gco.iarc.fr/today/data/factsheets/populations/356‐india‐fact‐sheets.pdf. K. B. Kuchenbaecker, J. L. Hopper, D. R. Barnes, et al., “Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers,” Journal of the American Medical Association 317, no. 23 (2017): 2402–2416. N. Petrucelli, M. B. Daly, and T. Pal, “BRCA1‐ and BRCA2‐Associated Hereditary Breast and Ovarian Cancer,” in GeneReviews, ed. M. P. Adam, J. Feldman, G. M. Mirzaa, et al. (University of Washington, Seattle, 1998–2025), https://www.ncbi.nlm.nih.gov/books/NBK1247/. L. C. Hartmann, D. J. Schaid, J. E. Woods, et al., “Efficacy of Bilateral Prophylactic Mastectomy in BRCA1 and BRCA2 Gene Mutation Carriers,” Journal of the National Cancer Institute 93, no. 21 (2001): 1633–1637. J. Iqbal, A. Ragone, J. Lubinski, et al., “The Incidence of Pancreatic Cancer in BRCA1 and BRCA2 Mutation Carriers,” British Journal of Cancer 107, no. 12 (2012): 2005–2009. A. Moran, C. O'Hara, S. Khan, et al., “Risk of Cancer Other Than Breast or Ovarian in Individuals With BRCA1 and BRCA2 Mutations,” Familial Cancer 11, no. 2 (2012): 235–242. D. Provenzale, S. Gupta, D. J. Ahnen, et al., “Genetic/Familial High‐Risk Assessment: Colorectal Version 1.2016, NCCN Clinical Practice Guidelines in Oncology,” Journal of the National Comprehensive Cancer Network 14, no. 8 (2016): 1010–1030, https://doi.org/10.6004/jnccn.2016.0108. J. Ledermann, P. Harter, C. Gourley, et al., “Olaparib Maintenance Therapy in Patients With Platinum‐Sensitive Relapsed Serous Ovarian Cancer: A Preplanned Retrospective Analysis of Outcomes by BRCA Status in a Randomised Phase 2 Trial,” Lancet Oncology 15, no. 8 (2014): 852–861. A. W. Kurian, E. E. Hare, M. A. Mills, et al., “Clinical Evaluation of a Multiple‐Gene Sequencing Panel for Hereditary Cancer Risk Assessment,” Journal of Clinical Oncology 32, no. 19 (2014): 2001–2009, https://doi.org/10.1200/JCO.2013.53.6607. S. E. Lincoln, Y. Kobayashi, M. J. Anderson, et al., “A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients,” Journal of Molecular Diagnostics 17, no. 5 (2015): 533–544, https://doi.org/10.1016/j.jmoldx.2015.04.009. S. S. Kulkarni, S. Nag, A. Patra, et al., “Prevalence of Germline Mutations in Women With Breast and/or Ovarian Cancer in a Tertiary Care Center in Pune, India,” International Journal of Molecular and Immuno Oncology 8, no. 2 (2023): 65–71. A. Vatsyayan, P. Mathur, R. C. Bhoyar, et al., “Understanding the Genetic Epidemiology of Hereditary Breast Cancer in India Using Whole Genome Data From 1029 Healthy Individuals,” Cancer Causes & Control 36 (2025): 673–682. M. S. Kadri, K. M. Patel, P. A. Bhargava, et al., “Mutational Landscape for Indian Hereditary Breast and Ovarian Cancer Cohort Suggests Need for Identifying Population Specific Genes and Biomarkers for Screening,” Frontiers in Oncology 10 (2021): 568786. L. Dorling, S. Carvalho, J. Allen, et al., “Breast Cancer Risk Genes—Association Analysis in More Than 113,000 Women,” New England Journal of Medicine 384, no. 5 (2021): 428–439. H. Yamauchi and J. Takei, “Management of Hereditary Breast and Ovarian Cancer,” International Journal of Clinical Oncology 23, no. 1 (2018): 45–51. N. Mavaddat, S. Peock, D. Frost, et al., “Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE,” JNCI Journal of the National Cancer Institute 105, no. 11 (2013): 812–822. T. Rajkumar, B. Meenakumari, S. Mani, V. Sridevi, and S. Sundersingh, “Targeted Resequencing of 30 Genes Improves the Detection of Deleterious Mutations in South Indian Women With Breast and/or Ovarian Cancers,” Asian Pacific Journal of Cancer Prevention 16, no. 13 (2015): 5211–5217. S. M. Domchek, T. M. Friebel, C. F. Singer, et al., “Association of Risk‐Reducing Surgery in BRCA1 or BRCA2 Mutation Carriers With Cancer Risk and Mortality,” Journal of the American Medical Association 304, no. 9 (2010): 967–975. A. U. Mannan, J. Singh, R. Lakshmikeshava, et al., “Detection of High Frequency of Mutations in a Breast and/or Ovarian Cancer Cohort: Implications of Embracing a Multi‐Gene Panel in Molecular Diagnosis in India,” Journal of Human Genetics 61, no. 6 (2016): 515–522. National Comprehensive Cancer Network, Genetic/Familial High‐Risk Assessment: Breast and Ovarian. Version 2.2016 (NCCN, 2016), http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf. F. J. Couch, K. L. Nathanson, and K. Offit, “Two Decades After BRCA: Setting Paradigms in Personalized Cancer Care and Prevention,” Science 343, no. 6178 (2014): 1466–1470. K. Vaidyanathan, S. Lakhotia, H. M. Ravishankar, U. Tabassum, G. Mukherjee, and K. Somasundaram, “BRCA1 and BRCA2 Germline Mutation Analysis Among Indian Women From South India: Identification of Four Novel Mutations and High‐Frequency Occurrence of 185delAG Mutation,” Journal of Biosciences 34 (2009): 415–422. A. Mehta, S. Vasudevan, S. K. Sharma, et al., “Germline BRCA1 and BRCA2 Deleterious Mutations and Variants of Unknown Clinical Significance Associated With Breast/Ovarian Cancer: A Report From North India,” Cancer Management and Research 10 (2018): 6505–6516. M. Suryavanshi, D. Kumar, M. K. Panigrahi, M. Chowdhary, and A. Mehta, “Detection of False Positive Mutations in BRCA Gene by Next Generation Sequencing,” Familial Cancer 16 (2017): 311–317. J. Hansa, R. Kannan, and S. K. Ghosh, “Screening of 185DelAG, 1014DelGT and 3889DelAG BRCA1 Mutations in Breast Cancer Patients From North‐East India,” Asian Pacific Journal of Cancer Prevention 13, no. 11 (2012): 5871–5874. E. Thirthagiri, S. Y. Lee, P. Kang, et al., “Evaluation of BRCA1 and BRCA2 Mutations and Risk‐Prediction Models in a Typical Asian Country (Malaysia) With a Relatively Low Incidence of Breast Cancer,” Breast Cancer Research 10 (2008): 1–12. P. Chheda, S. Pande, T. Dama, et al., “Spectrum of Germline BRCA Mutations in Hereditary Breast and Ovarian Cancer Syndrome in Indian Population: A Central Reference Laboratory Experience,” Cancer Research, Statistics, and Treatment 3, no. 1 (2020): 32–41. J. Singh, N. Thota, S. Singh, et al., “Screening of Over 1000 Indian Patients With Breast and/or Ovarian Cancer With a Multi‐Gene Panel: Prevalence of BRCA1/2 and Non‐BRCA Mutations,” Breast Cancer Research and Treatment 170 (2018): 189–196. B. N. Waghela, R. J. Pandit, A. Puvar, et al., “Identification of Novel Exonic Variants Contributing to Hereditary Breast and Ovarian Cancer in West Indian Population,” Gene 852 (2023): 147070. G. T. Toh, P. Kang, S. S. Lee, et al., “BRCA1 and BRCA2 Germline Mutations in Malaysian Women With Early‐Onset Breast Cancer Without a Family History,” PLoS One 3, no. 4 (2008): e2024. N. Soumittra, B. Meenakumari, T. Parija, et al., “Molecular Genetics Analysis of Hereditary Breast and Ovarian Cancer Patients in India,” Hereditary Cancer in Clinical Practice 7 (2009): 1–10. Y. Bai, W. Wang, and J. Wang, “Targeting DNA Repair Pathways: Mechanisms and Potential Applications in Cancer Therapy,” Genome Instability & Disease 1, no. 6 (2020): 318–338. S. N. Hart, E. C. Polley, A. Yussuf, et al., “Mutation Prevalence Tables for Hereditary Cancer Derived From Multigene Panel Testing,” Human Mutation 41, no. 8 (2020): e1–e6. N. Elsayegh, A. M. G. Barrera, K. I. Muse, et al., “Evaluation of BRCAPRO Risk Assessment Model in Patients With Ductal Carcinoma In Situ Who Underwent Clinical BRCA Genetic Testing,” Frontiers in Genetics 7 (2016): 71. M. Darooei, S. Poornima, B. U. Salma, et al., “Pedigree and BRCA Gene Analysis in Breast Cancer Patients to Identify Hereditary Breast and Ovarian Cancer Syndrome to Prevent Morbidity and Mortality of Disease in Indian Population,” Tumor Biology 39, no. 2 (2017): 1010428317694303. B. G. Haffty, S. K. McDonnell, Y. Yasui, et al., “Long‐Term Outcome of Breast‐Conserving Surgery in BRCA1/2 Mutation Carriers,” Breast Cancer Research and Treatment 76, no. 3 (2002): 221–228, https://doi.org/10.1023/A:1016044421436. N. M. Tung, J. C. Boughey, L. J. Pierce, et al., “Management of Hereditary Breast Cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology Guideline,” Journal of Clinical Oncology 38, no. 18 (2020): 2080–2106, https://doi.org/10.1200/JCO.20.00299. J. Cuzick, I. Sestak, S. Cawthorn, et al., “Use of Anastrozole in Postmenopausal Women at Increased Risk of Breast Cancer: Results of the IBIS‐II Trial,” Lancet 386, no. 10001 (2015): 1341–1352, https://doi.org/10.1016/S0140‐6736(15)61127‐9. P. E. Goss, J. N. Ingle, J. E. Alés‐Martínez, et al., “Exemestane for Breast‐Cancer Prevention in Postmenopausal Women,” New England Journal of Medicine 364, no. 25 (2011): 2381–2391, https://doi.org/10.1056/NEJMoa1103507. B. Fisher, J. P. Costantino, D. L. Wickerham, et al., “Tamoxifen for Prevention of Breast Cancer: Report of the National Surgical Adjuvant Breast and Bowel Project P‐1 Study,” JNCI Journal of the National Cancer Institute 90, no. 18 (1998): 1371–1388, https://doi.org/10.1093/jnci/90.18.1371. V. G. Vogel, J. P. Costantino, D. L. Wickerham, et al., “Effects of Tamoxifen vs. Raloxifene on the Risk of Developing Invasive Breast Cancer and Other Disease Outcomes: The NSABP Study of Tamoxifen and Raloxifene (STAR) P‐2 Trial,” Journal of the American Medical Association 295, no. 23 (2006): 2727–2741, https://doi.org/10.1001/jama.295.23.joc60156. M. Co, T. Liu, J. Leung, et al., “Breast Conserving Surgery for BRCA Mutation Carriers—A Systematic Review,” Clinical Breast Cancer 20, no. 3 (2020): e244–e250, https://doi.org/10.1016/j.clbc.2019.07.014. K. Metcalfe, S. Gershman, P. Ghadirian, et al., “Contralateral Mastectomy and Survival After Breast Cancer in Carriers of BRCA1 and BRCA2 Mutations: Retrospective Analysis,” BMJ 348 (2014): g226, https://doi.org/10.1136/bmj.g226. S. N. Chand, F. F. Blanco, M. Jimbo, et al., “PARP Inhibitors for Chemoprevention,” Cancer Prevention Research 7, no. 11 (2014): 1170–1171. P. Sharma, J. R. Klemp, B. F. Kimler, et al., “Germline BRCA Mutation Evaluation in a Prospective Triple‐Negative Breast Cancer Registry: Implications for Hereditary Breast and/or Ovarian Cancer Syndrome Testing,” Breast Cancer Research and Treatment 145 (2014): 707–714. M. C. King, S. Wieand, K. Hale, et al., “Tamoxifen and Breast Cancer Incidence Among Women With Inherited Mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP‐P1) Breast Cancer Prevention Trial,” Journal of the American Medical Association 286, no. 18 (2001): 2251–2256. E. D. Deeks, “Olaparib: First Global Approval,” Drugs 75 (2015): 231–240. B. Fisher, J. P. Costantino, D. L. Wickerham, et al., “Tamoxifen for the Prevention of Breast Cancer: Current Status of the National Surgical Adjuvant Breast and Bowel Project P‐1 Study,” Journal of the National Cancer Institute 90, no. 18 (1998): 1371–1388, https://doi.org/10.1093/jnci/90.18.1371. S. A. Narod, J. Brunet, P. Ghadirian, et al., “Tamoxifen and Risk of Contralateral Breast Cancer in BRCA1 and BRCA2 Mutation Carriers,” Lancet 356, no. 9230 (2000): 1876–1881, https://doi.org/10.1016/S0140‐6736(00)03178‐1. J. Kotsopoulos, J. Lubinski, J. Gronwald, et al., “Tamoxifen and the Risk of Breast Cancer in Women With a BRCA1 or BRCA2 Mutation,” Journal of Clinical Oncology 41, no. 13 (2023): 2345–2353, https://doi.org/10.1200/JCO.22.02722. K. Visvanathan, C. J. Fabian, E. Bantug, et al., “Use of Endocrine Therapy for Breast Cancer Risk Reduction: ASCO Clinical Practice Guideline Update,” Journal of Clinical Oncology 37, no. 33 (2019): 3152–3165. E. Hahnen, B. Lederer, J. Hauke, et al., “Germline Mutation Status, Pathological Complete Response, and Disease‐Free Survival in Triple‐Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial,” JAMA Oncology 3, no. 10 (2017): 1378–1385. P. P. Bharucha, K. E. Chiu, F. M. François, J. L. Scott, G. R. Khorjekar, and N. P. Tirada, “Genetic Testing and Screening Recommendations for Patients With Hereditary Breast Cancer,” Radiographics 40, no. 4 (2020): 913–936. D. H. Marmolejo, M. Y. Z. Wong, S. Bajalica‐Lagercrantz, et al., “Overview of Hereditary Breast and Ovarian Cancer (HBOC) Guidelines Across Europe,” European Journal of Medical Genetics 64, no. 12 (2021): 104350. H. D. Nelson, M. Pappas, B. Zakher, J. P. Mitchell, L. Okinaka‐Hu, and R. Fu, “Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA‐Related Cancer in Women: A Systematic Review to Update the U.S. Preventive Services Task Force Recommendation,” Annals of Internal Medicine 160, no. 4 (2014): 255–266, https://doi.org/10.7326/m13‐1684. D. Madorsky‐Feldman, M. Sklair‐Levy, T. Perri, et al., “An International Survey of Surveillance Schemes for Unaffected BRCA1 and BRCA2 Mutation Carriers,” Breast Cancer Research and Treatment 157 (2016): 319–327. A. Hurtado‐de‐Mendoza, M. C. Jackson, L. Anderson, and V. B. Sheppard, “The Role of Knowledge on Genetic Counseling and Testing in Black Cancer Survivors at Increased Risk of Carrying a BRCA1/2 Mutation,” Journal of Genetic Counseling 26 (2017): 113–121. R. S. Laishram, “Study of BRCA Mutation Variations: Need of the Hour,” Cancer Research, Statistics, and Treatment 3, no. 2 (2020): 373–374. J. Yoo, G. D. Lee, J. H. Kim, et al., “Clinical Validity of Next‐Generation Sequencing Multi‐Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast‐Ovarian Cancer Syndrome,” Annals of Laboratory Medicine 40, no. 2 (2020): 148–154. H. Byers, Y. Wallis, E. M. van Veen, et al., “Sensitivity of BRCA1/2 Testing in High‐Risk Breast/Ovarian/Male Breast Cancer Families: Little Contribution of Comprehensive RNA/NGS Panel Testing,” European Journal of Human Genetics 24, no. 11 (2016): 1591–1597, https://doi.org/10.1038/ejhg.2016.57. H. Satam, K. Joshi, U. Mangrolia, et al., “Next‐Generation Sequencing Technology: Current Trends and Advancements,” Biology 12, no. 7 (2023): 997. V. Zelli, C. Compagnoni, K. Cannita, et al., “Applications of Next Generation Sequencing to the Analysis of Familial Breast/Ovarian Cancer,” High Throughput 9, no. 1 (2020): 1. R. Kamps, R. D. Brandão, B. J. van den Bosch, et al., “Next‐Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification,” International Journal of Molecular Sciences 18, no. 2 (2017): 308. E. R. Thompson, M. A. Doyle, G. L. Ryland, et al., “Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles,” PLoS Genetics 8, no. 9 (2012): e1002894, https://doi.org/10.1371/journal.pgen.1002894. F. J. Gracia‐Aznarez, V. Fernandez, G. Pita, et al., “Whole Exome Sequencing Suggests Much of Non‐BRCA1/BRCA2 Familial Breast Cancer Is due to Moderate and Low Penetrance Susceptibility Alleles,” PLoS One 8, no. 2 (2013): e55681. M. S. Lawrence, P. Stojanov, P. Polak, et al., “Mutational Heterogeneity in Cancer and the Search for New Cancer‐Associated Genes,” Nature 499, no. 7457 (2013): 214–218. K. Snape, E. Ruark, P. Tarpey, et al., “Predisposition Gene Identification in Common Cancers by Exome Sequencing: Insights From Familial Breast Cancer,” Breast Cancer Research and Treatment 134 (2012): 429–433. H. Fecteau, K. J. Vogel, K. Hanson, and S. Morrill‐Cornelius, “The Evolution of Cancer Risk Assessment in the Era of Next Generation Sequencing,” Journal of Genetic Counseling 23 (2014): 633–639. C. Sessa, J. Balmaña, S. L. Bober, et al., “Risk Reduction and Screening of Cancer in Hereditary Breast‐Ovarian Cancer Syndromes: ESMO Clinical Practice Guideline,” Annals of Oncology 34, no. 1 (2023): 33–47. A. Nicolussi, F. Belardinilli, Y. Mahdavian, et al., “Next‐Generation Sequencing of BRCA1 and BRCA2 Genes for Rapid Detection of Germline Mutations in Hereditary Breast/Ovarian Cancer,” PeerJ 7 (2019): e6661. S. Glentis, A. C. Dimopoulos, K. Rouskas, et al., “Exome Sequencing in BRCA1‐ and BRCA2‐Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer,” Frontiers in Genetics 10 (2019): 1005. P. Sharma Bhai, D. Sharma, R. Saxena, and I. C. Verma, “Next‐Generation Sequencing Reveals a Nonsense Mutation (p. Arg364Ter) in MRE11A Gene in an Indian Patient With Familial Breast Cancer,” Breast Care 12, no. 2 (2017): 112–114. K. Lila, H. Bhanushali, M. Chanekar, et al., “Mutation Spectrum Analysis of BRCA1/2 Genes for Hereditary Breast and Ovarian Cancer in the Indian Population,” Asian Pacific Journal of Cancer Prevention 25, no. 12 (2024): 4145–4153. A. O. John, A. Singh, P. Yadav, et al., “The BRCA Mutation Spectrum Among Breast and Ovarian Cancers in India: Highlighting the Need to Screen BRCA1 185delAG Among South Indians,” Journal of Human Genetics 69, no. 1 (2024): 45–53, https://doi.org/10.1038/s10038‐023‐01039‐2. A. Gogia, S. Sharma, S. Gupta, et al., “Prevalence of BRCA1 and BRCA2 Mutations in an Unselected Cohort of Indian Women With Breast Cancer,” Journal of Clinical Oncology 41, no. 16S (2023): e13015, https://doi.org/10.1200/JCO.2023.41.16_suppl.e13015. S. Nag, A. Patra, H. B. Pant, et al., “BRCA Mutation Prevalence in Breast and Ovarian Cancer Patients: A Population‐Based Review,” PLoS One 18, no. 7 (2023): e0306612, https://doi.org/10.1371/journal.pone.0306612. R. Pilarski, “How Have Multigene Panels Changed the Clinical Practice of Genetic Counseling and Testing,” Journal of the National Comprehensive Cancer Network 19, no. 1 (2021): 103–108. C. Schroeder, U. Faust, M. Sturm, et al., “HBOC Multi‐Gene Panel Testing: Comparison of Two Sequencing Centers,” Breast Cancer Research and Treatment 152 (2015): 129–136. L. Carlsson, E. Thain, B. Gillies, and K. Metcalfe, “Psychological and Health Behaviour Outcomes Following Multi‐Gene Panel Testing for Hereditary Breast and Ovarian Cancer Risk: A Mini‐Review of the Literature,” Hereditary Cancer in Clinical Practice 20, no. 1 (2022): 25. M. Suszynska, K. Klonowska, A. J. Jasinska, and P. Kozlowski, “Large‐Scale Meta‐Analysis of Mutations Identified in Panels of Breast/Ovarian Cancer‐Related Genes—Providing Evidence of Cancer Predisposition Genes,” Gynecologic Oncology 153, no. 2 (2019): 452–462. K. Nones, J. Johnson, F. Newell, et al., “Whole‐Genome Sequencing Reveals Clinically Relevant Insights Into the Aetiology of Familial Breast Cancers,” Annals of Oncology 30, no. 7 (2019): 1071–1079. F. Cheng, L. Su, and C. Qian, “Circulating Tumor DNA: A Promising Biomarker in the Liquid Biopsy of Cancer,” Oncotarget 7, no. 30 (2016): 48832–48841. K. M. Farncombe, D. Wong, M. L. Norman, et al., “Current and New Frontiers in Hereditary Cancer Surveillance: Opportunities for Liquid Biopsy,” American Journal of Human Genetics 110, no. 10 (2023): 1616–1627. T. M. Zavarykina, P. K. Lomskova, I. V. Pronina, S. V. Khokhlova, M. B. Stenina, and G. T. Sukhikh, “Circulating Tumor DNA Is a Variant of Liquid Biopsy With Predictive and Prognostic Clinical Value in Breast Cancer Patients,” International Journal of Molecular Sciences 24, no. 23 (2023): 17073. L. Ma, H. Guo, Y. Zhao, et al., “Liquid Biopsy in Cancer Current: Status, Challenges and Future Prospects,” Signal Transduction and Targeted Therapy 9, no. 1 (2024): 336. M. C. Katapodi, “Precision Healthcare and Interventions in Hereditary Breast and Ovarian Cancer and Lynch Syndrome,” Cancers 15, no. 23 (2023): 5601. M. C. Roberts, A. E. Fohner, L. Landry, et al., “Advancing Precision Public Health Using Human Genomics: Examples From the Field and Future Research Opportunities,” Genome Medicine 13, no. 1 (2021): 97. R. Casolino, P. A. Beer, D. Chakravarty, et al., “Interpreting and Integrating Genomic Tests Results in Clinical Cancer Care: Overview and Practical Guidance,” CA: A Cancer Journal for Clinicians 74, no. 3 (2024): 264–285, https://doi.org/10.3322/caac.21825. M. Dominguez‐Valentin, S. Haupt, T. T. Seppälä, et al., “Mortality by Age, Gene and Gender in Carriers of Pathogenic Mismatch Repair Gene Variants Receiving Surveillance for Early Cancer Diagnosis and Treatment: A Report From the Prospective Lynch Syndrome Database,” EClinicalMedicine 58 (2023): 101909.
Contributed Indexing:	Keywords: BRCA; genetic counseling; genetic testing; hereditary breast and ovarian cancer; next‐generation sequencing
Substance Nomenclature:	0 (BRCA2 Protein) 0 (BRCA1 Protein)
Entry Date(s):	Date Created: 20260725 Date Completed: 20260725 Latest Revision: 20260727
Update Code:	20260727
PubMed Central ID:	PMC13400834
DOI:	10.1002/cam4.71497
PMID:	42499015
Βάση Δεδομένων:	MEDLINE

Περιγραφή
ISSN:	2045-7634
DOI:	10.1002/cam4.71497