BRCA1 and BRCA2: deep dive!

Tumor Genetic Testing

Germline mutations in the BRCA1 and BRCA2 genes result in a high increased lifetime risk of developing breast and ovarian cancer and, to a lesser extent, other types of cancer such as prostate cancer, pancreatic cancer and melanoma.

BRCA1 and BRCA2 related susceptibility to breast and ovarian cancer (also known as hereditary cancer and ovarian syndrome) are inherited in an autosomal dominant manner. Most individuals with a BRCA1 or BRCA2 pathogenic variant have inherited it from a parent. Because of incomplete penetrance, variable age of cancer, early death, or cancer risk reduction from medical treatment, the parent may be affected or unaffected. De novo (i.e. not inherited) mutations in BRCA1 and BRCA2 have been rarely reported.

The reported lifetime risk for developing cancer in individuals with a pathogenic variant in BRCA1 or BRCA2 is as follows: 40%-80% for breast cancer; 11%-40% for ovarian cancer; 1%-10% for male breast cancer; up to 39% for prostate cancer; 1%-7% for pancreatic cancer. Individuals with BRCA2 pathogenic variants may also be at an increased risk for melanoma.

See our panels for hereditary breast and ovarian cancer:

To proceed with the “deep dive” in BRCA1 and BRCA2, please click on any of the following:

  1. Breast and ovarian cancer, hereditary [clinical card]
  2. BRCA1/BRCA2 related cancers
  3. Current methods for BRCA1/BRCA2 molecular analysis
  4. BRCA1, BRCA2 and their products
  5. BRCA1 and BRCA2 mutations
  6. Current testing strategies for BRCA1/BRCA2 molecular analysis
  7. References

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