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Genetic Testing for BRCA1 and BRCA2

By 2025, above 2 lakh incidences of breast cancer and nearly 50 thousand of Ovarian Cancer incidences are estimated in India[1].

Familial breast cancer comprises approximately 20% to 30% of all breast cancers[2]. BRCA1 and BRCA2 are two major genes associated with hereditary breast and ovarian cancer syndrome. Approximately 7 percent of breast cancer and 15 percent of ovarian cancer cases are caused by harmful changes (mutations) in the BRCA1 and BRCA2 genes[3,4,5].

What is the role of BRCA1 and BRCA2 genes in breast cancer?

Genetic Testing for BRCA1 and BRCA2

The proteins produced by BRCA1 and BRCA2 ensure stability of cell’s genetic material. Mutation in BRCA1 and BRCA2 makes the cells likely to develop additional genetic changes that can lead to cancer

Genetic Testing for BRCA1 and BRCA2

Specific inherited mutations in BRCA1 and BRCA2 most notably increase the risk of female breast and ovarian cancers, but they have also been associated with increased risks of several additional types of cancer

Genetic Testing for BRCA1 and BRCA2

People who have inherited mutations in BRCA1 and BRCA2 tend to develop breast and ovarian cancers at younger ages than people who do not have these mutations

The BRCA gene impact

Hereditary Breast and Ovarian Cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent, other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 mutation. The exact cancer risks differ slightly depending on whether HBOC is caused by a BRCA1 or BRCA2 pathogenic variant[6].

Cancer TypeStatusPopulation average riskRisk with BRCA 1 mutationRisk with BRCA 2 mutation
Risk of developing cancer by the age of 80
12%46% - 87%38% - 84%
cancer in other breast
(within 5 years)
(Within 10 years)
(By the age of 70)
(Within 10 years)
(By the age of 70)
Male BreastUnaffected0.1%1.2%Upto 8.9%
Risk of developing cancer by the age of 80
1% - 2%39% - 63%16.5% - 27%

What is the BRCA gene test and how is it useful?

The MedGenome BRCA gene test is a blood test that helps assess your risk of developing cancer by detecting a potentially harmful change (mutation) in BRCA1 and BRCA2 genes. The blood sample goes to MedGenome lab for DNA analysis. It is very important to fill the Test Requisition Form (TRF) with accurate personal, clinical and family history (if present) details to enable effective interpretation of test results.

The time taken for generating a clinical report will be maximum of 3 weeks from receiving the samples in lab.

MedGenome offers a complimentary pre test and post test genetic counselling session with qualified professionals who offer unbiased insights about risk, occurrence or recurrence of genetic disorder in the individual/family

The BRCA gene test is useful for following outcomes

Genetic Testing for BRCA1 and BRCA2

Assessment of hereditary cancer risk

Genetic Testing for BRCA1 and BRCA2

Deciding the best drug treatment

Genetic Testing for BRCA1 and BRCA2

Early detection and improving overall survival

Therapeutic decision making based on the BRCA gene test

  • Breast cancers associated with BRCA1/2 mutations have poorer prognosis pertaining to early onset of disease
  • Increased incidence of recurrent disease
  • BRCA1 mutations are associated with a higher risk for triple negative breast cancer
  • Increased sensitivity to platinum and PARP inhibitors- US FDA (Food and Drugs Administration) has approved germline testing of BRCA1/2 as a companion diagnostic for certain PARP inhibitors for breast cancer. It has also approved the same testing for the same PARP inhibitors treatment in ovarian cancer.
  • Decreased sensitivity to taxanes
  • Chemotherapy for early small tumors might improve overall outcome

Who should be tested?

BRCA1 and BRCA2 associated hereditary breast and ovarian cancer (HBOC) should be suspected in individuals with a personal or family history (1st, 2nd, or 3rd degree relative in either lineage) of any of the following characteristics[7].

  • A personal history of breast or ovarian cancer diagnosed at young age (premenopausal), bilateral breast cancer (affecting both breasts) or presence of both ovarian and breast cancer
  • A family history of breast, ovarian, fallopian tube, peritoneal, prostate, or pancreatic cancer.
  • A male family member having breast cancer.
  • A relative with a known deleterious mutation in BRCA1 or BRCA2 genes.
  • A history of breast cancer diagnosed below age of 45 years
  • A family member with bilateral breast cancer below age of 50
  • An individual with triple negative breast cancer below age of 60 years with or without family history
  • Two or more relatives with ovarian cancer
  • Ashkenazi Jewish ethnicity.
  • Both breast and ovarian cancers in either the same woman or the same family

Additional tests for breast and ovarian cancer

In addition to high risk BRCA1 and BRCA2 gene variations, there are number of other HBOC predisposing genes such as TP53, STK11, PTEN, BARD1, CDH1,ATM, CHEK2, BRIP, PALB2, MSH2, MLH1, MSH6, PMS2, EPCAM, NBN, NBS1, RAD50, RAD51C, RAD51D, RAD54L, MRE11, NF1, CASP8, FGFR2, TNRC9, MAP3K1, LSP1 which are recommended to be tested in case of BRCA negative report with familial disease suspicion.

MedGenome offers Hereditary Cancer Gene Panel Test, which includes 106 hereditary cancer predisposing genes for all commonly inherited cancers as well as rare cancers.

Aditional tests


1. http://www.iacr.com.fr/index.php?option=com_content&view=article&id=101&Itemid=578
2. Olopade OI, Grushko TA, Nanda R, Huo D. Advances in breast cancer: pathways to personalized medicine. Clin Cancer Res. 2008 Dec 15;14(24):7988-99.
3. Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Kwan E, Jack E, Vesprini DJ, Kuperstein G, Abrahamson JL, Fan I, Wong B, Narod SA. Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet. 2001 Mar;68(3):700-10.
4. Couch FJ, Shimelis H, Hu C, Hart SN, Polley EC, Na J, Hallberg E, Moore R, Thomas A, Lilyquist J, Feng B, McFarland R, Pesaran T, Huether R, LaDuca H, Chao EC, Goldgar DE, Dolinsky JS. Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. JAMA Oncol. 2017 Sep 1;3(9):1190-1196.
5. LaDuca H, Stuenkel AJ, Dolinsky JS, Keiles S, Tandy S, Pesaran T, Chen E, Gau CL, Palmaer E, Shoaepour K, Shah D, Speare V, Gandomi S, Chao E. Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. Genet Med. 2014 Nov;16(11):830-7.
6. Petrucelli N, Daly MB, Pal T. BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer. 1998 Sep 4 [Updated 2016 Dec 15]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993- 2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1247/
7. NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast and Ovarian, V2.2019