NCI Definition: An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer. [1]

Significant Genes in Hereditary Breast and Ovarian Cancer Syndrome




TP53 +

Disease Details

Familial Breast and Ovarian Cancer Syndrome, Hereditary Breast/Ovarian Cancer (BRCA1, BRCA2), Familial Breast/Ovarian Cancer (BRCA1, BRCA2), Hereditary Breast and Ovarian Cancer
Hereditary Neoplastic Syndrome


1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.