BRCA in Women

About 12% of women in the general population will develop breast cancer sometime during their lifetimes, but for women who carry a mutation in the BRCA1 or BRCA2 genes, the risk of developing breast cancer as well as several other cancers is much higher over their lifetime. These cancers also sometimes occur at a younger age on average, may be more aggressive and in some cases, more resistant to treatment, than other cancers. If you do not know much about BRCA 1 and BRCA 2, you can check out the BRCA Basics page on this site for more information.

This site focuses on BRCA gene mutations in the Ashkenazi Jewish population. About 90% of carriers in the Ashkenazi Jewish population carry one of the following three mutations: BRCA1 185delAG, BRCA1 5382insC, and BRCA2 6174delT.

Knowing which specific BRCA mutation you carry can be useful for any conversations you have with your doctor about how to manage your personal risk of cancer, as well as which screening options or prophylactic surgical care options might be best for you. The tables below provide specific information of what is currently known on the risk profiles for each of these mutations for women, so that you can better understand your personal risk. You can also find a detailed graph here.

Please note that these are just basic statistics – it is impossible to predict who will develop a cancer and who will not. Everyone’s personal risk of cancer varies depending a wide variety of factors. For instance, for female BRCA carriers, the risk of breast cancer has been found to increase with the number of first-degree relatives with breast cancer (such as a parent or sibling) or second-degree relatives (such as a cousin) with breast cancer. However, knowing your risk can help you make educated decisions about your health for yourself and for your family.

Learn more about BRCA and Jewish women through the Your Jewish Genes

Resource by Sharsheret


BRCA1 185delAG

BRCA1 185delAG is the most common BRCA1 mutation in the Ashkenazi Jewish population

Breast Cancer

  • Average 64% lifetime risk (by age 70) of breast cancer
  • Increased lifetime risk of second breast cancer (not reappearance of first tumor)

Ovarian Cancer

Other Cancers

  • 4 times the lifetime risk of colorectal cancer
  • Increased lifetime risk (average 2.6x) of all cancers, such as pancreatic, laryngeal, and stomach cancers
  • No increased lifetime risk of melanoma

BRCA1 5382insC

BRCA1 5382insC is the less common BRCA1 mutation in the Ashkenazi Jewish population

Breast Cancer

  • Average 67-69% lifetime risk (by age 70) of breast cancer (and slightly higher risk before age 50)
  • Increased lifetime risk of second breast cancer (not reappearance of first tumor)

Ovarian Cancer

Other Cancers

  • 4 times the lifetime risk of colorectal cancer
  • Increased lifetime risk (average 2.6x) of all cancers, such as pancreatic, laryngeal, and stomach cancers
  • No increased lifetime risk of melanoma

BRCA2 6174delT

Half of all BRCA carriers in the Ashkenazi Jewish population will carry BRCA2 6174delT

Breast Cancer

  • Average 33% lifetime risk (by age 70) for breast cancer (about 1/3 lower risk than other non-AJ BRCA2 mutations)
  • Increased lifetime risk of second breast cancer (not reappearance of first tumor)

Ovarian Cancer

  • Average 20% lifetime risk (by age 70) for ovarian cancer (about double other BRCA2 mutations)

Other Cancers

  • 12 times the lifetime risk of lymphoma
  • Increased lifetime risk (average 1.8 times the risk ) of all cancers, including pancreatic (3.5x),
    colorectal cancer (2.3x), gallbladder (5x), laryngeal and stomach cancer (2.6x), melanoma (2.6x)

The graphs below show the risk of developing breast cancer (top graph) and the risk of developing ovarian cancer (bottom graph) over a woman’s lifetime, depending on the mutation in the BRCA1 or BRCA2 gene that she carries.