Abstract
Breast cancer is the most common cancer among women. A significant number of breast cancer patients have a family history of breast and/or ovarian cancer with associated high-risk genetic mutations. The culmination of translational research has helped in streaming guidelines and integration of genetic testing and interventions in the mainstream practice of oncology, especially in western countries. There are challenges of awareness, access, acceptability, and affordability for genetic testing and interventions in low to middle-income countries (LMIC). Surgeons play a vital role in the overall management of breast cancer and should take an initiative to familiarize and integrate into practice genetic counseling, genetic testing, and risk-reducing aspects of multidisciplinary breast cancer management. Risk-reducing surgery (RRS) is a complex and rapidly evolving field and surgeons dealing with breast cancer should be familiar with various dimensions of managing such patients. Several ethical, legal, and social issues are involved with genetic counseling and testing. A combined effort is needed to facilitate mainstreaming of genetic testing and risk-reducing surgery fields in LMIC.
Similar content being viewed by others
Data Availability
Available.
Code Availability
Not applicable.
References
Sung H, Ferlay J, Siegel RL, Laversanne M, Soerjomataram I, Jemal A et al (2021) Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin 71(3):209–249
Mathur P, Sathishkumar K, Chaturvedi M, Das P, Sudarshan KL, Santhappan S et al (2020) Cancer statistics, 2020: report from National Cancer Registry Programme. India JCO Glob Oncol 6:1063–1075
Yoshida R. Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis. Breast Cancer [Internet]. 2020; Available from: https://doi.org/10.1007/s12282-020-01148-2
Olopade OI (1997) The human genome project and breast cancer. Women’s Heal Issues 7(4):209–214
Malhotra H, Kowtal P, Mehra N, Pramank R, Sarin R, Rajkumar T et al (2020) Genetic counseling, testing, and management of HBOC in India: an expert consensus document from Indian Society of Medical and Pediatric Oncology. JCO Glob Oncol 6:991–1008
Toss A, Tomasello C, Razzaboni E, Contu G, Grandi G, Cagnacci A, et al. Hereditary ovarian cancer: not only BRCA 1 and 2 genes. Biomed Res Int. 2015;2015:341723.
Petrucelli N, Daly MB, Pal T (1998) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer summary genetic counseling suggestive findings. Univ Washington, Seattle, GeneReviews, pp 1–37
Colditz GA, Willett WC, Hunter DJ, Stampfer MJ, Manson JE, Hennekens CH, et al. Family history, age, and risk of breast cancer. Prospective data from the Nurses’ Health Study. JAMA. 1993 Jul;270(3):338–43.
Daly MB, Pilarski R, Yurgelun MB, Berry MP, Buys SS, Dickson P, et al. NCCN guidelines insights: genetic/familial high-risk assessment: breast, ovarian, and pancreatic, Version 1.2020. J Natl Compr Canc Netw. 2020 Apr;18(4):380–91.
Kapoor NS, Curcio LD, Blakemore CA, Bremner AK, McFarland RE, West JG et al (2015) Multigene panel testing detects equal rates of pathogenic BRCA1/2 mutations and has a higher diagnostic yield compared to limited BRCA1/2 analysis alone in patients at risk for hereditary breast cancer. Ann Surg Oncol 22(10):3282–3288
Ali-Khan SE, Black L, Palmour N, Hallett MT, Avard D (2015) Socio-ethical issues in personalized medicine: a systematic review of English language health technology assessments of gene expression profiling tests for breast cancer prognosis. Int J Technol Assess Health Care 31(1–2):36–50
Ludwig KK, Neuner J, Butler A, Geurts JL, Kong AL (2016) Risk reduction and survival benefit of prophylactic surgery in BRCA mutation carriers, a systematic review. Am J Surg 212(4):660–669
Xiao Y-L, Wang K, Liu Q, Li J, Zhang X, Li H-Y (2019) Risk reduction and survival benefit of risk-reducing salpingo-oophorectomy in hereditary breast cancer: meta-analysis and systematic review. Clin Breast Cancer 19(1):e48-65
Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C, et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA [Internet]. 2010 Sep 1;304(9):967–75. Available from: https://doi.org/10.1001/jama.2010.1237
Guillem JG, Wood WC, Moley JF, Berchuck A, Karlan BY, Mutch DG et al (2006) ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromes. Ann Surg Oncol 13(10):1296–1321
Julian-Reynier C, Bouhnik AD, Mouret-Fourme E, Gauthier-Villars M, Berthet P, Lasset C et al (2010) Time to prophylactic surgery in BRCA1/2 carriers depends on psychological and other characteristics. Genet Med 12(12):801–807
Tilanus-Linthorst MMA, Lingsma HF, Evans DG, Thompson D, Kaas R, Manders P et al (2013) Optimal age to start preventive measures in women with BRCA1/2 mutations or high familial breast cancer risk. Int J Cancer 133(1):156–163
Paluch-Shimon S, Cardoso F, Sessa C, Balmana J, Cardoso MJ, Gilbert F, et al. Prevention and screening in BRCA mutation carriers and other breast/ovarian hereditary cancer syndromes: ESMO clinical practice guidelines for cancer prevention and screening. Ann Oncol [Internet]. 2016;27(Supplement 5):v103–10. Available from: https://doi.org/10.1093/annonc/mdw327
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Ethics Approval
Not applicable.
Consent to Participate
Not applicable.
Consent for Publication
Not applicable.
Conflict of Interest
The authors declare no competing interests.
Additional information
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
About this article
Cite this article
Deo, S.V.S., Chhebbi, M., Mishra, A. et al. A Review of Surgical Perspectives of Breast Cancer Genetics and Risk-Reducing Surgery. Indian J Surg 84 (Suppl 3), 605–610 (2022). https://doi.org/10.1007/s12262-021-03119-z
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12262-021-03119-z