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Familial cancer of breast

MedGen UID:
87542
•Concept ID:
C0346153
•
Neoplastic Process
Synonyms: BREAST CANCER, FAMILIAL; Hereditary breast cancer; hereditary breast carcinoma
SNOMED CT: Familial cancer of breast (254843006)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Non-Mendelian inheritance
MedGen UID:
109109
•Concept ID:
C0600599
•
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Autosomal dominant inheritance (Orphanet)
Non-Mendelian inheritance (Orphanet)
 
Genes (locations): AKT1 (14q32.33); ATM (11q22.3); BARD1 (2q35); BRCA1 (17q21.31); BRCA2 (13q13.1); BRIP1 (17q23.2); CASP8 (2q33.1); CDH1 (16q22.1); ESR1 (6q25.1-25.2); HMMR (5q34); KRAS (12p12.1); NQO2 (6p25.2); PHB1 (17q21.33); PIK3CA (3q26.32); PPM1D (17q23.2); RAD51 (15q15.1); RAD54L (1p34.1); RB1CC1 (8q11.23); SLC67A1 (11p15.4); TP53 (17p13.1); XRCC3 (14q32.33)
Related genes: PALB2, CHEK2, STK11, RAD51D, RAD51C, PTEN
 
Monarch Initiative: MONDO:0016419
OMIM®: 114480
Orphanet: ORPHA227535

Disease characteristics

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. [from GeneReviews]
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

Additional description

From OMIM
Breast cancer (referring to mammary carcinoma, not mammary sarcoma) is histopathologically and almost certainly etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement.  http://www.omim.org/entry/114480

Clinical features

From HPO
Breast carcinoma
MedGen UID:
146260
•Concept ID:
C0678222
•
Neoplastic Process
The presence of a carcinoma of the breast.
See: Feature record | Search on this feature

Term Hierarchy

Suggested Reading

PubMed

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 [Internet]
Nelson HD, Pappas M, Cantor A, Haney E, Holmes R, Stillman L
Rockville (MD): Agency for Healthcare Research and Quality (US); 2019 Aug; PMID: 31479213Books & Documents
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: Systematic Review to Update the U.S. Preventive Services Task Force Recommendation [Internet]
Nelson HD, Fu R, Goddard K, Mitchell JP, Okinaka-Hu L, Pappas M, Zakher B
Rockville (MD): Agency for Healthcare Research and Quality (US); 2013 Dec; PMID: 24432435Books & Documents
Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.
PDQ Cancer Genetics Editorial Board
2002 PMID: 26389258
Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version.
PDQ Cancer Genetics Editorial Board
2002 PMID: 26389210

Recent clinical studies

Etiology

Hereditary Breast Cancer: BRCA Mutations and Beyond.
Patel MM, Adrada BE
Radiol Clin North Am 2024 Jul;62(4):627-642. Epub 2024 Mar 7 doi: 10.1016/j.rcl.2023.12.014. PMID: 38777539
Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline.
Sessa C, Balmaña J, Bober SL, Cardoso MJ, Colombo N, Curigliano G, Domchek SM, Evans DG, Fischerova D, Harbeck N, Kuhl C, Lemley B, Levy-Lahad E, Lambertini M, Ledermann JA, Loibl S, Phillips KA, Paluch-Shimon S; ESMO Guidelines Committee. Electronic address: clinicalguidelines@esmo.org
Ann Oncol 2023 Jan;34(1):33-47. Epub 2022 Oct 25 doi: 10.1016/j.annonc.2022.10.004. PMID: 36307055
Functions of Breast Cancer Predisposition Genes: Implications for Clinical Management.
Yoshimura A, Imoto I, Iwata H
Int J Mol Sci 2022 Jul 5;23(13) doi: 10.3390/ijms23137481. PMID: 35806485Free PMC Article
Cancer genetics and breast cancer.
Huber-Keener KJ
Best Pract Res Clin Obstet Gynaecol 2022 Jun;82:3-11. Epub 2022 Jan 31 doi: 10.1016/j.bpobgyn.2022.01.007. PMID: 35272929
Hereditary breast cancer; Genetic penetrance and current status with BRCA.
Mahdavi M, Nassiri M, Kooshyar MM, Vakili-Azghandi M, Avan A, Sandry R, Pillai S, Lam AK, Gopalan V
J Cell Physiol 2019 May;234(5):5741-5750. Epub 2018 Dec 14 doi: 10.1002/jcp.27464. PMID: 30552672

Diagnosis

Hereditary breast and ovarian cancer: from genes to molecular targeted therapies.
Ponti G, De Angelis C, Ponti R, Pongetti L, Losi L, Sticchi A, Tomasi A, Ozben T
Crit Rev Clin Lab Sci 2023 Dec;60(8):640-650. Epub 2023 Jul 16 doi: 10.1080/10408363.2023.2234488. PMID: 37455374
Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline.
Sessa C, Balmaña J, Bober SL, Cardoso MJ, Colombo N, Curigliano G, Domchek SM, Evans DG, Fischerova D, Harbeck N, Kuhl C, Lemley B, Levy-Lahad E, Lambertini M, Ledermann JA, Loibl S, Phillips KA, Paluch-Shimon S; ESMO Guidelines Committee. Electronic address: clinicalguidelines@esmo.org
Ann Oncol 2023 Jan;34(1):33-47. Epub 2022 Oct 25 doi: 10.1016/j.annonc.2022.10.004. PMID: 36307055
Clinical practice guidelines for BRCA1 and BRCA2 genetic testing.
Pujol P, Barberis M, Beer P, Friedman E, Piulats JM, Capoluongo ED, Garcia Foncillas J, Ray-Coquard I, Penault-Llorca F, Foulkes WD, Turnbull C, Hanson H, Narod S, Arun BK, Aapro MS, Mandel JL, Normanno N, Lambrechts D, Vergote I, Anahory M, Baertschi B, Baudry K, Bignon YJ, Bollet M, Corsini C, Cussenot O, De la Motte Rouge T, Duboys de Labarre M, Duchamp F, Duriez C, Fizazi K, Galibert V, Gladieff L, Gligorov J, Hammel P, Imbert-Bouteille M, Jacot W, Kogut-Kubiak T, Lamy PJ, Nambot S, Neuzillet Y, Olschwang S, Rebillard X, Rey JM, Rideau C, Spano JP, Thomas F, Treilleux I, Vandromme M, Vendrell J, Vintraud M, Zarca D, Hughes KS, Alés Martínez JE
Eur J Cancer 2021 Mar;146:30-47. Epub 2021 Feb 10 doi: 10.1016/j.ejca.2020.12.023. PMID: 33578357
Molecular Testing in Breast Cancer.
Litton JK, Burstein HJ, Turner NC
Am Soc Clin Oncol Educ Book 2019 Jan;39:e1-e7. Epub 2019 May 17 doi: 10.1200/EDBK_237715. PMID: 31099622
Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers.
Kuchenbaecker KB, Hopper JL, Barnes DR, Phillips KA, Mooij TM, Roos-Blom MJ, Jervis S, van Leeuwen FE, Milne RL, Andrieu N, Goldgar DE, Terry MB, Rookus MA, Easton DF, Antoniou AC; BRCA1 and BRCA2 Cohort Consortium, McGuffog L, Evans DG, Barrowdale D, Frost D, Adlard J, Ong KR, Izatt L, Tischkowitz M, Eeles R, Davidson R, Hodgson S, Ellis S, Nogues C, Lasset C, Stoppa-Lyonnet D, Fricker JP, Faivre L, Berthet P, Hooning MJ, van der Kolk LE, Kets CM, Adank MA, John EM, Chung WK, Andrulis IL, Southey M, Daly MB, Buys SS, Osorio A, Engel C, Kast K, Schmutzler RK, Caldes T, Jakubowska A, Simard J, Friedlander ML, McLachlan SA, Machackova E, Foretova L, Tan YY, Singer CF, Olah E, Gerdes AM, Arver B, Olsson H
JAMA 2017 Jun 20;317(23):2402-2416. doi: 10.1001/jama.2017.7112. PMID: 28632866

Therapy

Olaparib efficacy in patients with germline BRCA-mutated, HER2-negative metastatic breast cancer: Subgroup analyses from the phase III OlympiAD trial.
Senkus E, Delaloge S, Domchek SM, Conte P, Im SA, Xu B, Armstrong A, Masuda N, Fielding A, Robson M, Tung N
Int J Cancer 2023 Aug 15;153(4):803-814. Epub 2023 Apr 6 doi: 10.1002/ijc.34525. PMID: 36971103
OlympiAD extended follow-up for overall survival and safety: Olaparib versus chemotherapy treatment of physician's choice in patients with a germline BRCA mutation and HER2-negative metastatic breast cancer.
Robson ME, Im SA, Senkus E, Xu B, Domchek SM, Masuda N, Delaloge S, Tung N, Armstrong A, Dymond M, Fielding A, Allen A, Conte P
Eur J Cancer 2023 May;184:39-47. Epub 2023 Feb 14 doi: 10.1016/j.ejca.2023.01.031. PMID: 36893711Free PMC Article
Cisplatin with veliparib or placebo in metastatic triple-negative breast cancer and BRCA mutation-associated breast cancer (S1416): a randomised, double-blind, placebo-controlled, phase 2 trial.
Rodler E, Sharma P, Barlow WE, Gralow JR, Puhalla SL, Anders CK, Goldstein L, Tripathy D, Brown-Glaberman UA, Huynh TT, Szyarto CS, Godwin AK, Pathak HB, Swisher EM, Radke MR, Timms KM, Lew DL, Miao J, Pusztai L, Hayes DF, Hortobagyi GN
Lancet Oncol 2023 Feb;24(2):162-174. Epub 2023 Jan 6 doi: 10.1016/S1470-2045(22)00739-2. PMID: 36623515Free PMC Article
Surgical Management of Hereditary Breast Cancer.
Berger ER, Golshan M
Genes (Basel) 2021 Aug 31;12(9) doi: 10.3390/genes12091371. PMID: 34573353Free PMC Article
Management of Hereditary Breast Cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology Guideline.
Tung NM, Boughey JC, Pierce LJ, Robson ME, Bedrosian I, Dietz JR, Dragun A, Gelpi JB, Hofstatter EW, Isaacs CJ, Jatoi I, Kennedy E, Litton JK, Mayr NA, Qamar RD, Trombetta MG, Harvey BE, Somerfield MR, Zakalik D
J Clin Oncol 2020 Jun 20;38(18):2080-2106. Epub 2020 Apr 3 doi: 10.1200/JCO.20.00299. PMID: 32243226

Prognosis

Hereditary breast and ovarian cancer: from genes to molecular targeted therapies.
Ponti G, De Angelis C, Ponti R, Pongetti L, Losi L, Sticchi A, Tomasi A, Ozben T
Crit Rev Clin Lab Sci 2023 Dec;60(8):640-650. Epub 2023 Jul 16 doi: 10.1080/10408363.2023.2234488. PMID: 37455374
Clinical practice guidelines for BRCA1 and BRCA2 genetic testing.
Pujol P, Barberis M, Beer P, Friedman E, Piulats JM, Capoluongo ED, Garcia Foncillas J, Ray-Coquard I, Penault-Llorca F, Foulkes WD, Turnbull C, Hanson H, Narod S, Arun BK, Aapro MS, Mandel JL, Normanno N, Lambrechts D, Vergote I, Anahory M, Baertschi B, Baudry K, Bignon YJ, Bollet M, Corsini C, Cussenot O, De la Motte Rouge T, Duboys de Labarre M, Duchamp F, Duriez C, Fizazi K, Galibert V, Gladieff L, Gligorov J, Hammel P, Imbert-Bouteille M, Jacot W, Kogut-Kubiak T, Lamy PJ, Nambot S, Neuzillet Y, Olschwang S, Rebillard X, Rey JM, Rideau C, Spano JP, Thomas F, Treilleux I, Vandromme M, Vendrell J, Vintraud M, Zarca D, Hughes KS, Alés Martínez JE
Eur J Cancer 2021 Mar;146:30-47. Epub 2021 Feb 10 doi: 10.1016/j.ejca.2020.12.023. PMID: 33578357
Molecular Testing in Breast Cancer.
Litton JK, Burstein HJ, Turner NC
Am Soc Clin Oncol Educ Book 2019 Jan;39:e1-e7. Epub 2019 May 17 doi: 10.1200/EDBK_237715. PMID: 31099622
Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.
Fraile-Bethencourt E, Valenzuela-Palomo A, Díez-Gómez B, Goina E, Acedo A, Buratti E, Velasco EA
J Pathol 2019 Aug;248(4):409-420. Epub 2019 Apr 23 doi: 10.1002/path.5268. PMID: 30883759
Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers.
Kuchenbaecker KB, Hopper JL, Barnes DR, Phillips KA, Mooij TM, Roos-Blom MJ, Jervis S, van Leeuwen FE, Milne RL, Andrieu N, Goldgar DE, Terry MB, Rookus MA, Easton DF, Antoniou AC; BRCA1 and BRCA2 Cohort Consortium, McGuffog L, Evans DG, Barrowdale D, Frost D, Adlard J, Ong KR, Izatt L, Tischkowitz M, Eeles R, Davidson R, Hodgson S, Ellis S, Nogues C, Lasset C, Stoppa-Lyonnet D, Fricker JP, Faivre L, Berthet P, Hooning MJ, van der Kolk LE, Kets CM, Adank MA, John EM, Chung WK, Andrulis IL, Southey M, Daly MB, Buys SS, Osorio A, Engel C, Kast K, Schmutzler RK, Caldes T, Jakubowska A, Simard J, Friedlander ML, McLachlan SA, Machackova E, Foretova L, Tan YY, Singer CF, Olah E, Gerdes AM, Arver B, Olsson H
JAMA 2017 Jun 20;317(23):2402-2416. doi: 10.1001/jama.2017.7112. PMID: 28632866

Clinical prediction guides

Hereditary breast and ovarian cancer: from genes to molecular targeted therapies.
Ponti G, De Angelis C, Ponti R, Pongetti L, Losi L, Sticchi A, Tomasi A, Ozben T
Crit Rev Clin Lab Sci 2023 Dec;60(8):640-650. Epub 2023 Jul 16 doi: 10.1080/10408363.2023.2234488. PMID: 37455374
Clinical practice guidelines for BRCA1 and BRCA2 genetic testing.
Pujol P, Barberis M, Beer P, Friedman E, Piulats JM, Capoluongo ED, Garcia Foncillas J, Ray-Coquard I, Penault-Llorca F, Foulkes WD, Turnbull C, Hanson H, Narod S, Arun BK, Aapro MS, Mandel JL, Normanno N, Lambrechts D, Vergote I, Anahory M, Baertschi B, Baudry K, Bignon YJ, Bollet M, Corsini C, Cussenot O, De la Motte Rouge T, Duboys de Labarre M, Duchamp F, Duriez C, Fizazi K, Galibert V, Gladieff L, Gligorov J, Hammel P, Imbert-Bouteille M, Jacot W, Kogut-Kubiak T, Lamy PJ, Nambot S, Neuzillet Y, Olschwang S, Rebillard X, Rey JM, Rideau C, Spano JP, Thomas F, Treilleux I, Vandromme M, Vendrell J, Vintraud M, Zarca D, Hughes KS, Alés Martínez JE
Eur J Cancer 2021 Mar;146:30-47. Epub 2021 Feb 10 doi: 10.1016/j.ejca.2020.12.023. PMID: 33578357
Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women.
Palmer JR, Polley EC, Hu C, John EM, Haiman C, Hart SN, Gaudet M, Pal T, Anton-Culver H, Trentham-Dietz A, Bernstein L, Ambrosone CB, Bandera EV, Bertrand KA, Bethea TN, Gao C, Gnanaolivu RD, Huang H, Lee KY, LeMarchand L, Na J, Sandler DP, Shah PD, Yadav S, Yang W, Weitzel JN, Domchek SM, Goldgar DE, Nathanson KL, Kraft P, Yao S, Couch FJ
J Natl Cancer Inst 2020 Dec 14;112(12):1213-1221. doi: 10.1093/jnci/djaa040. PMID: 32427313Free PMC Article
Molecular Testing in Breast Cancer.
Litton JK, Burstein HJ, Turner NC
Am Soc Clin Oncol Educ Book 2019 Jan;39:e1-e7. Epub 2019 May 17 doi: 10.1200/EDBK_237715. PMID: 31099622
Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.
Fraile-Bethencourt E, Valenzuela-Palomo A, Díez-Gómez B, Goina E, Acedo A, Buratti E, Velasco EA
J Pathol 2019 Aug;248(4):409-420. Epub 2019 Apr 23 doi: 10.1002/path.5268. PMID: 30883759

Recent systematic reviews

Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.
de Freitas Ribeiro AA, Junior NMC, Dos Santos LL
Eur J Med Res 2024 Mar 20;29(1):187. doi: 10.1186/s40001-024-01767-x. PMID: 38504328Free PMC Article
Family history and breast cancer risk for Asian women: a systematic review and meta-analysis.
Wang H, MacInnis RJ, Li S
BMC Med 2023 Jul 3;21(1):239. doi: 10.1186/s12916-023-02950-3. PMID: 37400822Free PMC Article
Latinx attitudes, barriers, and experiences with genetic counseling and testing: A systematic review.
Dron HA, Bucio D, Young JL, Tabor HK, Cho MK
J Genet Couns 2023 Feb;32(1):166-181. Epub 2022 Oct 27 doi: 10.1002/jgc4.1632. PMID: 36301246Free PMC Article
Diagnostic and prognostic value of miR-200 family in breast cancer: A meta-analysis and systematic review.
Thi Chung Duong T, Nguyen THN, Thi Ngoc Nguyen T, Huynh LH, Ngo HP, Thi Nguyen H
Cancer Epidemiol 2022 Apr;77:102097. Epub 2022 Jan 11 doi: 10.1016/j.canep.2022.102097. PMID: 35030348
Effect of BRCA2 mutation on familial breast cancer survival: A systematic review and meta-analysis.
Shao J, Yang J, Wang JN, Qiao L, Fan W, Gao QL, Feng YJ
J Huazhong Univ Sci Technolog Med Sci 2015 Oct;35(5):629-634. Epub 2015 Oct 22 doi: 10.1007/s11596-015-1481-7. PMID: 26489613

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • UK NICE Clinical Guideline, 2025
      Advanced breast cancer: diagnosis and treatment, CG81, 2025
    • NICE, 2025
      UK NICE Guideline NG101, Early and locally advanced breast cancer: diagnosis and management, 2025
    • 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

    Reviews

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