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GTR Home > Conditions/Phenotypes > Familial cancer of breast

Familial cancer of breast

Synonyms
BARD1-Related Susceptibility to Breast Cancer; CHEK2-Related Breast Cancer; CHEK2-Related Susceptibility to Breast Cancer
Modes of inheritance
Heterogeneous (HPO)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)

Summary

Excerpted from the GeneReview: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
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.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Nancie Petrucelli
Mary B Daly
Tuya Pal
view full author information

Available tests

271 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (271 available)

Cytogenetics Tests

Molecular Genetics Tests

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, 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, 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: 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 (S. cerevisiae)

  • 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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Imported from Human Phenotype Ontology (HPO)

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