What is the BRCA1 and BRCA2 gene test?

BRCA1 and BRCA2 gene test

A blood test that helps assess your chances of developing cancer by detecting a potentially harmful change (mutation) in the BRCA1 and BRCA2 genes.

BRCA1 and BRCA2 gene test


brca testing
  • By 2025, over 2,00,000 cases of breast cancer and nearly 50,000 cases of ovarian cancer are estimated to be reported in India
  • Familial breast cancer comprises approximately 20% to 30% of all breast cancer cases
  • Approximately 7% of all breast cancer and 15% of all ovarian cancer cases are caused by harmful mutations in the BRCA1 and BRCA2 genes

Common cancers for which predisposition can be assessed

  • Female and male breast cancer Ovarian cancer (including cancer of the fallopian tube and primary peritoneal cancers)
  • Prostate Cancer
  • Pancreatic Cancer
  • Melanoma

The exact cancer risks differ slightly depending on whether Hereditary Breast and Ovarian Cancer (HBOCP is caused by a BRCA1 or BRCA2 pathogenic variant.

Why do you need the test?

Specific inherited mutations in BRCA1 and BRCA2 are known to increase the risks of breast and ovarian cancer.

The BRCA1 and BRCA2 gene testing are used for:

  • Assessing hereditary cancer risk
  • Helps the clinician in treatment decisions to decide on preventive measures
  • For those individuals who are already affected with cancer and are carriers of inherited pathogenic BRCA mutations, helps in targeted therapy decision using PARP inhibitors
  • Improving overall survival through early detection

brca gene test

Who needs to get tested?

Individuals with a personal or family history (1st, 2nd, or 3rd-degree relative in either lineage) are predisposed towards BRCA1 and BRCA2 associated HBOC. Here’s what you need to consider before getting the test done:

  • A personal history of breast or ovarian cancer diagnosed at a young age (premenopausal), bilateral breast cancer (affecting both breasts), or the 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/ovarian cancer diagnosed below the age of 45 years
  • A family member with bilateral breast cancer below the age of 50
  • An individual with triple-negative breast cancer below the age of 60 years with or without a family history
  • Two or more relatives with ovarian cancer
  • An Ashkenazi Jewish ethnicity
  • Breast and ovarian cancers in either the same woman or the same family

Why MedGenome?

  • NGS-based- Uses Next Generation Sequencing based genomics and DNA analysis to identify multiple harmful mutations
  • Mutations-covered- Covers Single Nucleotide Variations (SNVs), Short Insertions and Deletions (InDels), structural variants, and copy number variations
  • High accuracy and sensitivity- BRCA1 and BRCA2 genes are covered 100% with the sensitivity and specificity to detect SNVs and InDels being 100%
  • Genetic Counselling- MedGenome offers a complimentary pre-test and post-test genetic counseling session with qualified professionals who offer unbiased insights into risk, occurrence, and recurrence of genetic disorders in the individual/family

Positive result: Indicates that a person has inherited a harmful mutation in one of the breast cancer genes, BRCA1 or BRCA2, and therefore has an increased risk of developing breast or ovarian cancer. However, a positive result doesn’t mean that an individual will develop cancer. Negative result: Indicates that no BRCA mutation was found. A person with a negative test result is prone to the risk of cancer just as someone in the general population. Ambiguous result: An ambiguous result occurs when a genetic test finds a change in BRCA1 or BRCA2 that has not been previously associated with cancer. This type of test result may be described as ‘ambiguous’ often referred to as ‘a genetic variant of uncertain significance’.

To reduce the risk of cancer after a positive test result, the following can be done (strictly in consultation with an Oncologist):

  • Increase surveillance through breast MRI, annual mammography, and semi-annual clinical breast exam
  • Administer risk-reducing medication
  • Undergo risk-reducing surgeries


BRCA1 and BRCA2 gene test



Breast cancer is the most common type of cancer affecting women across the globe.

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