GTR Home > Conditions/Phenotypes > Familial cancer of breast
BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes 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 exact cancer risks differ slightly depending on whether HBOC is caused by a BRCA1 or BRCA2 pathogenic variant.

Genes See tests for all associated and related genes

  • Also known as: AKT, CWS6, PKB, PKB-ALPHA, PRKBA, RAC, RAC-ALPHA, AKT1
    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 protein C-terminal 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: CDS1, CHK2, HuCds1, LFS2, PP1425, RAD53, hCds1, CHEK2
    Summary: checkpoint kinase 2

  • 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, CFC2, K-RAS2A, K-RAS2B, K-RAS4A, K-RAS4B, K-Ras, KI-RAS, KRAS1, KRAS2, NS, NS3, RALD, RASK2, c-Ki-ras2, KRAS
    Summary: KRAS proto-oncogene, GTPase

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

  • Also known as: FANCN, PNCA3, PALB2
    Summary: partner and localizer of BRCA2

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

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

  • Also known as: TSG10, VPS23, TSG101
    Summary: tumor susceptibility 101

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

Clinical features

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Practice guidelines

  • USPSTF, 2014
    Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement.
  • USPSTF, 2014
    Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from 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
  • NSGC, 2007
    Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.
  • NSGC, 2004
    Genetic cancer risk assessment and counseling: recommendations of the National Society of Genetic Counselors.

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.

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