An Overview of Genes Associated with Hereditary Breast and Ovarian Cancer in India

Indian Journal of Gynecologic Oncology - Tập 19 - Trang 1-12 - 2021
Bhoomi Tarapara1, Nutan Badgujar1, Shashank Pandya2, Madhvi Joshi3, Franky Shah1
1Department of Cancer Biology, Gujarat Cancer and Research Institute, Ahmedabad, India
2The Gujarat Cancer and Research Institute, Ahmedabad, India
3Gujarat Biotechnology Research Centre, Gandhinagar, India

Tóm tắt

Cancer is a dreadful disease, with genetics being a significant causative etiological factor. About 5–10% of the cancers arise through the congenital alteration of a group of genes which are predisposition genetic factor. Inherited mutation can play a role in leading or receding fashion that can deliberate varied degree of penetrance. The risk for causing hereditary cancer mainly focused on identification of BRCA1 and BRCA2, which are high-penetrance breast cancer genes linked with the highest lifetime cancer risks. The hereditary breast and ovarian cancer is also attributed to alterations in various other breast and ovarian cancer susceptibility genes. In this review, a comprehensive information of genes associated with HBOC is discussed. Extensive data are gathered using different search tools for Indian studies related to HBOC. It revealed that genetic prevalence of hereditary breast and ovarian cancer in Indian population is less explored. There are very few large-scale studies in Indian population related to HBOC. Further, there is lack of studies that analyzed various other high-penetrance gene except BRCA1/BRCA2 in Indian HBOC patients. There are various limiting factors like ethnicity, clinical history for inclusion and exclusion, inconsistency in method used for analysis, etc. The study suggested that a strategic approach is required for Indian hereditary breast and ovarian cancer patients.

Tài liệu tham khảo

Bray F, Ferlay J, Soerjomataram I, Siegel RL, Torre LA, Jemal A. Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2018;68:394–424.

Saletta F, Dalla Pozza L, Byrne JA. Genetic causes of cancer predisposition in children and adolescents. Transl Pediatr. 2015;4:67–75.

Rahner N, Steinke V. Hereditary cancer syndromes. Dtsch Arztebl Int. 2008;105:706–14.

Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, Thornton AM, et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci USA. 2011;108:18032–7.

Campeau PM, Foulkes WD, Tischkowitz MD. Hereditary breast cancer: new genetic developments, new therapeutic avenues. Hum Genet. 2008;124:31–42.

Howlader N, Noone A, Krapcho M, Neyman N, Aminou R, Waldron W, et al. Surveillance epidemiology and end results cancer statistics review, 1975–2008; 2013. https://seer.cancer.gov/archive/csr/1975_2008/.

Gerdes AM, Cruger D, Thomassen M, Kruse T. Evaluation of two different models to predict BRCA1 and BRCA2 mutations in a cohort of Danish hereditary breast and/or ovarian cancer families. Clin Genet. 2006;69:171–8.

Hodgson S. Mechanisms of inherited cancer susceptibility. J Zhejiang Univ Sci B. 2008;9:1–4.

Bartosch C, Clarke B, Bosse T. Gynaecological neoplasms in common familial syndromes (Lynch and HBOC). Pathology. 2018;50:222–37.

Nielsen FC, van Overeem HT, Sørensen CS. Hereditary breast and ovarian cancer: new genes in confined pathways. Nat Rev Cancer. 2016;16:599–612.

Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, Pennil C, et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci USA. 2010;107:12629–33.

Ripperger T, Gadzicki D, Meindl A, Schlegelberger B. Breast cancer susceptibility: current knowledge and implications for genetic counselling. Eur J Hum Genet. 2009;17:722–31.

Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007;25:1329–33.

Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, Ballinger DG, et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature. 2007;447:1087–93.

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: featured updates to the NCCN guidelines. J Natl Compr Cancer Netw. 2020;18(4):380–91.

Kim H, Choi DH. Distribution of BRCA1 and BRCA2 mutations in Asian patients with breast cancer. J Breast Cancer. 2013;16:357–65.

Rajkumar T, Meenakumari B, Mani S, Sridevi V, Sundersingh S. Targeted resequencing of 30 genes improves the detection of deleterious mutations in South Indian women with breast and/or ovarian cancers. Asian Pac J Cancer Prev. 2015;16:5211–7.

Saxena S, Chakraborty A, Kaushal M, Kotwal S, Bhatanager D, Mohil RS, et al. Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India. BMC Med Genet. 2006;7:75.

Rajkumar T, Soumittra N, Nancy NK, Swaminathan R, Sridevi V, Shanta V. BRCA1, BRCA2 and CHEK2 (1100 del C) germline mutations in hereditary breast and ovarian cancer families in South India. Asian Pac J Cancer Prev. 2003;4:203–8.

Hedau S, Jain N, Husain SA, Mandal AK, Ray G, Shahid M, et al. Novel germline mutations in breast cancer susceptibility genes BRCA1, BRCA2 and p53 gene in breast cancer patients from India. Breast Cancer Res Treat. 2004;88:177–86.

Vaidyanathan K, Lakhotia S, Ravishankar H, Tabassum U, Mukherjee G, Somasundaram K. BRCA1 and BRCA2 germline mutation analysis among Indian women from south India: identification of four novel mutations and high-frequency occurrence of 185delAG mutation. J Biosci. 2009;34:415–22.

Valarmathi MT, Sawhney M, Deo SS, Shukla NK, Das SN. Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families. Hum Mutat. 2004;23:205.

Kumar BV, Lakhotia S, Ankathil R, Madhavan J, Jayaprakash P, Nair MK, et al. Germline BRCA1 mutation analysis in Indian breast/ovarian cancer families. Cancer Biol Ther. 2002;1:18–21.

Saxena S, Szabo CI, Chopin S, Barjhoux L, Sinilnikova O, Lenoir G, et al. BRCA1 and BRCA2 in Indian breast cancer patients. Hum Mutat. 2002;20:473–4.

Syamala V, Sreeja L, Syamala VS, Vinodkumar B, Raveendran PB, Sreedharan H, et al. Novel germline mutations in BRCA2 gene among 96 hereditary breast and breast–ovarian cancer families from Kerala, South India. J Cancer Res Clin Oncol. 2007;133:867–74.

Valarmathi MT, Deo SS, Shukla NK, Das SN. BRCA1 germline mutations in Indian familial breast cancer. Hum Mutat. 2003;21:98–9.

Kadalmani K, Deepa S, Bagavathi S, Anishetty S, Thangaraj K, Gajalakshmi P. Independent origin of 185delAG BRCA1 mutation in an Indian family. Neoplasma. 2007;54:51–6.

Soumittra N, Meenakumari B, Parija T, Sridevi V, Nancy KN, Swaminathan R, et al. Molecular genetics analysis of hereditary breast and ovarian cancer patients in India. Hered Cancer Clin Pract. 2009;7:13.

Hansa J, Kannan R, Ghosh SK. Screening of 185DelAG, 1014DelGT and 3889DelAG BRCA1 mutations in breast cancer patients from North-East India. Asian Pac J Cancer Prev. 2012;13:5871–4.

Chakraborty A, Banerjee D, Basak J, Mukhopadhyay A. Absence of 185delAG and 6174delT mutations among breast cancer patients of eastern India. Asian Pac J Cancer Prev. 2015;16:7929–33.

Karami F, Mehdipour P. A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer. Biomed Res Int. 2013;2013:928562. https://doi.org/10.1155/2013/928562.

Mannan AU, Singh J, Lakshmikeshava R, Thota N, Singh S, Sowmya T, 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. J Hum Genet. 2016;61:515–22.

Singh J, Thota N, Singh S, Padhi S, Mohan P, Deshwal S, 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 Res Treat. 2018;170:189–96.

Suryavanshi M, Kumar D, Panigrahi MK, Chowdhary M, Mehta A. Detection of false positive mutations in BRCA gene by next generation sequencing. Fam Cancer. 2017;16:311–7.

Darooei M, Poornima S, Salma BU, Iyer GR, Pujar AN, Annapurna S, 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. Tumour Biol. 2017;39:1010428317694303.

Mehta A, Vasudevan S, Sharma SK, Kumar D, Panigrahi M, Suryavanshi M, 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 Manag Res. 2018;10:6505–16.

Gajalakshmi P, Natarajan TG, Rani DS, Thangaraj K. A novel BRCA1 mutation in an Indian family with hereditary breast/ovarian cancer. Breast Cancer Res Treat. 2007;101:3–6.

Roy SK, Trividi AH, Bakshi SR, Patel SJ, Shukla PS, Shah AD, et al. A study of chromosome aneuploidy in hereditary breast cancer patients and their healthy blood relatives. J Exp Clin Cancer Res. 2001;20:103–9.

Thông tin
Thông tin xuất bản

Indian Journal of Gynecologic Oncology

Tập 19

1-12

Thông tin tác giả