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GTR Home > Conditions/Phenotypes > Familial cancer of breast
BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including 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 pathogenic variant. The risk of developing an associated cancer varies depending on whether HBOC is caused by a BRCA1 or BRCA2 pathogenic variant.

Genes See tests for all associated and related genes

    Summary: AKT serine/threonine kinase 1

  • Also known as: AT1, ATA, ATC, ATD, ATDC, ATE, TEL1, TELO1, ATM
    Summary: ATM serine/threonine kinase

  • Also known as: , BARD1
    Summary: BRCA1 associated RING domain 1

  • Also known as: BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4, PPP1R53, PSCP, RNF53, BRCA1
    Summary: BRCA1 DNA repair associated

  • Also known as: BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD, FANCD1, GLM3, PNCA2, XRCC11, BRCA2
    Summary: BRCA2 DNA repair associated

  • Also known as: BACH1, FANCJ, OF, BRIP1
    Summary: BRCA1 interacting helicase 1

  • Also known as: ALPS2B, CAP4, Casp-8, FLICE, MACH, MCH5, CASP8
    Summary: caspase 8

  • Also known as: Arc-1, BCDS1, CD324, CDHE, ECAD, LCAM, UVO, CDH1
    Summary: cadherin 1

  • Also known as: ER, ESR, ESRA, ESTRR, Era, NR3A1, ESR1
    Summary: estrogen receptor 1

  • Also known as: CD168, IHABP, RHAMM, HMMR
    Summary: hyaluronan mediated motility receptor

  • Also known as: 'C-K-RAS, C-K-RAS, CFC2, K-RAS2A, K-RAS2B, K-RAS4A, K-RAS4B, K-Ras, K-Ras 2, KI-RAS, KRAS1, KRAS2, NS, NS3, OES, RALD, RASK2, c-Ki-ras, c-Ki-ras2, KRAS
    Summary: KRAS proto-oncogene, GTPase

  • Also known as: DHQV, DIA6, NMOR2, QR2, NQO2
    Summary: N-ribosyldihydronicotinamide:quinone dehydrogenase 2

  • Also known as: HEL-215, HEL-S-54e, PHB, PHB1
    Summary: prohibitin 1

  • Also known as: CCM4, CLAPO, CLOVE, CWS5, MCAP, MCM, MCMTC, PI3K, PI3K-alpha, p110-alpha, PIK3CA
    Summary: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

  • Also known as: IDDGIP, JDVS, PP2C-DELTA, WIP1, PPM1D
    Summary: protein phosphatase, Mg2+/Mn2+ dependent 1D

  • Also known as: BRCC5, FANCR, HRAD51, HsRad51, HsT16930, MRMV2, RAD51A, RECA, RAD51
    Summary: RAD51 recombinase

  • Also known as: HR54, RAD54A, hHR54, hRAD54, RAD54L
    Summary: RAD54 like

  • Also known as: ATG17, CC1, FIP200, PPP1R131, RB1CC1
    Summary: RB1 inducible coiled-coil 1

  • Also known as: BWR1A, BWSCR1A, HET, IMPT1, ITM, ORCTL2, SLC22A1L, TSSC5, p45-BWR1A, SLC22A18
    Summary: solute carrier family 22 member 18

  • Also known as: BCC7, BMFS5, LFS1, P53, TRP53, TP53
    Summary: tumor protein p53

  • Also known as: CMM6, XRCC3
    Summary: X-ray repair cross complementing 3

Clinical features


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Suggested reading

  • USPSTF, 2019
    Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA1/2-Related Cancer in Women: A Systematic Review for the U.S. Preventive Services Task Force
  • USPSTF, 2013
    Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: Systematic Review to Update the U.S. Preventive Services Task Force Recommendation (See 2019 Update)
  • NCI PDQ, Breast and Gynecologic Cancers
    Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version
  • NCI PDQ, Cancer Genetics Counseling
    Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version

Practice guidelines

  • NCCN, 2023
    Breast Cancer, NCCN Guidelines Version 4.2022
  • NCCN, 2022
    NCCN Clinical Practice Guidelines in Oncology, Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic version 2.2022
  • NICE, 2019
    UK NICE Clinical Guideline CG164, Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer, 2019
  • ACMG ACT, 2019
    American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, BRCA1 and BRCA2 Pathogenic Variants (Hereditary Breast and Ovarian Cancer), 2019

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.