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GTR Home > Conditions/Phenotypes > Familial cancer of breast

Familial cancer of breast

Synonyms
Breast cancer, familial
Modes of inheritance
Autosomal dominant inheritance (Orphanet)
Non-Mendelian inheritance (Orphanet)

Summary

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

Available tests

443 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (443 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AKT, 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 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, HMH, 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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Imported from Human Phenotype Ontology (HPO)

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Reviews

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, Cancer Genetics Counseling
    Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version
  • NCI PDQ, Breast and Gynecologic Cancers
    Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version

Clinical resources

Practice guidelines

  • NICE, 2024
    UK NICE Guideline NG101, Early and locally advanced breast cancer: diagnosis and management, 2024
  • NICE, 2023
    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, 2023
  • 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
  • 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

Molecular resources

Consumer resources

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