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Familial cancer of breast

MedGen UID:: 87542
•Concept ID:: C0346153
•: Neoplastic Process

Synonyms:	Breast cancer, familial; Hereditary breast cancer
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): Gene(s) directly associated with this condition or phenotype.	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); SLC22A18 (11p15.4); TP53 (17p13.1); XRCC3 (14q32.33)
Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	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]

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

Abnormality of the breast
- Breast carcinoma

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Phenotypic abnormality
- Abnormality of the breast
  - Abnormal breast morphology
    - Breast neoplasm
      - Breast carcinoma
        Familial cancer of breast
        Ataxia-telangiectasia syndrome
        BRCA-Associated Breast Carcinoma
        Metastatic BRCA-Associated Breast Carcinoma
        Breast cancer, early-onset
        Breast cancer, familial male
        Breast cancer, susceptibility to
        Fanconi anemia complementation group J
        Fanconi anemia complementation group N
        Hereditary breast ovarian cancer syndrome
        BRCA1-Associated Hereditary Breast and Ovarian Cancer Syndrome
        BRCA2-Associated Hereditary Breast and Ovarian Cancer Syndrome
        Breast-ovarian cancer, familial, susceptibility to, 1
        Breast-ovarian cancer, familial, susceptibility to, 2
        Breast-ovarian cancer, familial, susceptibility to, 3
        Breast-ovarian cancer, familial, susceptibility to, 4
        Hereditary Female Breast Carcinoma
        Hereditary Male Breast Carcinoma
        Li-Fraumeni syndrome
        CHEK2-Associated Li-Fraumeni-Like Syndrome
        Li-Fraumeni syndrome 1
        Li-Fraumeni syndrome 2
        PALB2-Associated Breast Carcinoma
        Peutz-Jeghers syndrome
        PTEN hamartoma tumor syndrome
        Bannayan-Riley-Ruvalcaba syndrome
        Cowden syndrome
        Proteus syndrome
        Cowden syndrome 1
        Lhermitte-Duclos disease
        Proteus-like syndrome
        Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome

Professional guidelines

PubMed

Identification and management of familial breast cancer in Austria.

Singer CF, Tan YY, Rappaport C
Horm Mol Biol Clin Investig 2017 Nov 30;32(2) doi: 10.1515/hmbci-2017-0025. PMID: 29190211

Cancer genetic risk assessment for individuals at risk of familial breast cancer.

Hilgart JS, Coles B, Iredale R
Cochrane Database Syst Rev 2012 Feb 15;2012(2):CD003721. doi: 10.1002/14651858.CD003721.pub3. PMID: 22336791 Free PMC Article

BRCA and beyond: a genome-first approach to familial breast cancer risk assessment.

Trainer AH, Thompson E, James PA
Discov Med 2011 Nov;12(66):433-43. PMID: 22127114

See all (21)

Curated

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

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

Breast Cancer, NCCN Guidelines Version 4.2022

NCCN Clinical Practice Guidelines in Oncology, Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic version 2.2022

American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, BRCA1 and BRCA2 Pathogenic Variants (Hereditary Breast and Ovarian Cancer), 2019

Recent clinical studies

Etiology

BRCA-CRisk: A Contralateral Breast Cancer Risk Prediction Model for BRCA Carriers.

Sun J, Chu F, Pan J, Zhang Y, Yao L, Chen J, Hu L, Zhang J, Xu Y, Wang X, Cao W, Xie Y
J Clin Oncol 2023 Feb 10;41(5):991-999. Epub 2022 Dec 8 doi: 10.1200/JCO.22.00833. PMID: 36480783

Contrast-enhanced MRI for breast cancer screening.

Mann RM, Kuhl CK, Moy L
J Magn Reson Imaging 2019 Aug;50(2):377-390. Epub 2019 Jan 18 doi: 10.1002/jmri.26654. PMID: 30659696 Free PMC Article

RAD51 foci as a functional biomarker of homologous recombination repair and PARP inhibitor resistance in germline BRCA-mutated breast cancer.

Cruz C, Castroviejo-Bermejo M, Gutiérrez-Enríquez S, Llop-Guevara A, Ibrahim YH, Gris-Oliver A, Bonache S, Morancho B, Bruna A, Rueda OM, Lai Z, Polanska UM, Jones GN, Kristel P, de Bustos L, Guzman M, Rodríguez O, Grueso J, Montalban G, Caratú G, Mancuso F, Fasani R, Jiménez J, Howat WJ, Dougherty B, Vivancos A, Nuciforo P, Serres-Créixams X, Rubio IT, Oaknin A, Cadogan E, Barrett JC, Caldas C, Baselga J, Saura C, Cortés J, Arribas J, Jonkers J, Díez O, O'Connor MJ, Balmaña J, Serra V
Ann Oncol 2018 May 1;29(5):1203-1210. doi: 10.1093/annonc/mdy099. PMID: 29635390 Free PMC Article

ATM mutations for surgeons.

Mansfield SA, Pilarski R, Agnese DM
Fam Cancer 2017 Jul;16(3):407-410. doi: 10.1007/s10689-016-9959-4. PMID: 27988859

Screening for Breast Cancer: U.S. Preventive Services Task Force Recommendation Statement.

Siu AL; U.S. Preventive Services Task Force
Ann Intern Med 2016 Feb 16;164(4):279-96. Epub 2016 Jan 12 doi: 10.7326/M15-2886. PMID: 26757170

See all (3657)

Diagnosis

Contrast-enhanced MRI for breast cancer screening.

Mann RM, Kuhl CK, Moy L
J Magn Reson Imaging 2019 Aug;50(2):377-390. Epub 2019 Jan 18 doi: 10.1002/jmri.26654. PMID: 30659696 Free PMC Article

Breast cancer in adolescents and young adults.

Johnson RH, Anders CK, Litton JK, Ruddy KJ, Bleyer A
Pediatr Blood Cancer 2018 Dec;65(12):e27397. Epub 2018 Aug 28 doi: 10.1002/pbc.27397. PMID: 30156052 Free PMC Article

RAD51 foci as a functional biomarker of homologous recombination repair and PARP inhibitor resistance in germline BRCA-mutated breast cancer.

Screening for Breast Cancer: U.S. Preventive Services Task Force Recommendation Statement.

Siu AL; U.S. Preventive Services Task Force
Ann Intern Med 2016 Feb 16;164(4):279-96. Epub 2016 Jan 12 doi: 10.7326/M15-2886. PMID: 26757170

Familial Risk and Heritability of Cancer Among Twins in Nordic Countries.

Mucci LA, Hjelmborg JB, Harris JR, Czene K, Havelick DJ, Scheike T, Graff RE, Holst K, Möller S, Unger RH, McIntosh C, Nuttall E, Brandt I, Penney KL, Hartman M, Kraft P, Parmigiani G, Christensen K, Koskenvuo M, Holm NV, Heikkilä K, Pukkala E, Skytthe A, Adami HO, Kaprio J; Nordic Twin Study of Cancer (NorTwinCan) Collaboration
JAMA 2016 Jan 5;315(1):68-76. doi: 10.1001/jama.2015.17703. PMID: 26746459 Free PMC Article

See all (2049)

Therapy

Overall survival in the OlympiA phase III trial of adjuvant olaparib in patients with germline pathogenic variants in BRCA1/2 and high-risk, early breast cancer.

Geyer CE Jr, Garber JE, Gelber RD, Yothers G, Taboada M, Ross L, Rastogi P, Cui K, Arahmani A, Aktan G, Armstrong AC, Arnedos M, Balmaña J, Bergh J, Bliss J, Delaloge S, Domchek SM, Eisen A, Elsafy F, Fein LE, Fielding A, Ford JM, Friedman S, Gelmon KA, Gianni L, Gnant M, Hollingsworth SJ, Im SA, Jager A, Jóhannsson ÓÞ, Lakhani SR, Janni W, Linderholm B, Liu TW, Loman N, Korde L, Loibl S, Lucas PC, Marmé F, Martinez de Dueñas E, McConnell R, Phillips KA, Piccart M, Rossi G, Schmutzler R, Senkus E, Shao Z, Sharma P, Singer CF, Španić T, Stickeler E, Toi M, Traina TA, Viale G, Zoppoli G, Park YH, Yerushalmi R, Yang H, Pang D, Jung KH, Mailliez A, Fan Z, Tennevet I, Zhang J, Nagy T, Sonke GS, Sun Q, Parton M, Colleoni MA, Schmidt M, Brufsky AM, Razaq W, Kaufman B, Cameron D, Campbell C, Tutt ANJ; OlympiA Clinical Trial Steering Committee and Investigators
Ann Oncol 2022 Dec;33(12):1250-1268. Epub 2022 Oct 10 doi: 10.1016/j.annonc.2022.09.159. PMID: 36228963 Free PMC Article

Celecoxib in Cancer Therapy and Prevention - Review.

Tołoczko-Iwaniuk N, Dziemiańczyk-Pakieła D, Nowaszewska BK, Celińska-Janowicz K, Miltyk W
Curr Drug Targets 2019;20(3):302-315. doi: 10.2174/1389450119666180803121737. PMID: 30073924

Breast cancer screening in young women.

Desreux JAC
Eur J Obstet Gynecol Reprod Biol 2018 Nov;230:208-211. Epub 2018 May 24 doi: 10.1016/j.ejogrb.2018.05.018. PMID: 29804884

Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation.

Kaufman B, Shapira-Frommer R, Schmutzler RK, Audeh MW, Friedlander M, Balmaña J, Mitchell G, Fried G, Stemmer SM, Hubert A, Rosengarten O, Steiner M, Loman N, Bowen K, Fielding A, Domchek SM
J Clin Oncol 2015 Jan 20;33(3):244-50. Epub 2014 Nov 3 doi: 10.1200/JCO.2014.56.2728. PMID: 25366685 Free PMC Article

BRCA1 as target for breast cancer prevention and therapy.

Romagnolo AP, Romagnolo DF, Selmin OI
Anticancer Agents Med Chem 2015;15(1):4-14. doi: 10.2174/1871520614666141020153543. PMID: 25329591

See all (574)

Prognosis

BRCA-CRisk: A Contralateral Breast Cancer Risk Prediction Model for BRCA Carriers.

Sun J, Chu F, Pan J, Zhang Y, Yao L, Chen J, Hu L, Zhang J, Xu Y, Wang X, Cao W, Xie Y
J Clin Oncol 2023 Feb 10;41(5):991-999. Epub 2022 Dec 8 doi: 10.1200/JCO.22.00833. PMID: 36480783

Contrast-enhanced MRI for breast cancer screening.

Mann RM, Kuhl CK, Moy L
J Magn Reson Imaging 2019 Aug;50(2):377-390. Epub 2019 Jan 18 doi: 10.1002/jmri.26654. PMID: 30659696 Free PMC Article

Family history and risk of breast cancer: an analysis accounting for family structure.

Brewer HR, Jones ME, Schoemaker MJ, Ashworth A, Swerdlow AJ
Breast Cancer Res Treat 2017 Aug;165(1):193-200. Epub 2017 Jun 3 doi: 10.1007/s10549-017-4325-2. PMID: 28578505 Free PMC Article

Screening for Breast Cancer: U.S. Preventive Services Task Force Recommendation Statement.

Siu AL; U.S. Preventive Services Task Force
Ann Intern Med 2016 Feb 16;164(4):279-96. Epub 2016 Jan 12 doi: 10.7326/M15-2886. PMID: 26757170

Familial Risk and Heritability of Cancer Among Twins in Nordic Countries.

See all (1381)

Clinical prediction guides

Modifiable risk factors in women at high risk of breast cancer: a systematic review.

Cohen SY, Stoll CR, Anandarajah A, Doering M, Colditz GA
Breast Cancer Res 2023 Apr 24;25(1):45. doi: 10.1186/s13058-023-01636-1. PMID: 37095519 Free PMC Article

BRCA-CRisk: A Contralateral Breast Cancer Risk Prediction Model for BRCA Carriers.

Sun J, Chu F, Pan J, Zhang Y, Yao L, Chen J, Hu L, Zhang J, Xu Y, Wang X, Cao W, Xie Y
J Clin Oncol 2023 Feb 10;41(5):991-999. Epub 2022 Dec 8 doi: 10.1200/JCO.22.00833. PMID: 36480783

Contrast-enhanced MRI for breast cancer screening.

Mann RM, Kuhl CK, Moy L
J Magn Reson Imaging 2019 Aug;50(2):377-390. Epub 2019 Jan 18 doi: 10.1002/jmri.26654. PMID: 30659696 Free PMC Article

Familial Risk and Heritability of Cancer Among Twins in Nordic Countries.

Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.

Hansford S, Kaurah P, Li-Chang H, Woo M, Senz J, Pinheiro H, Schrader KA, Schaeffer DF, Shumansky K, Zogopoulos G, Santos TA, Claro I, Carvalho J, Nielsen C, Padilla S, Lum A, Talhouk A, Baker-Lange K, Richardson S, Lewis I, Lindor NM, Pennell E, MacMillan A, Fernandez B, Keller G, Lynch H, Shah SP, Guilford P, Gallinger S, Corso G, Roviello F, Caldas C, Oliveira C, Pharoah PD, Huntsman DG
JAMA Oncol 2015 Apr;1(1):23-32. doi: 10.1001/jamaoncol.2014.168. PMID: 26182300

See all (1629)

Recent systematic reviews

Modifiable risk factors in women at high risk of breast cancer: a systematic review.

Cohen SY, Stoll CR, Anandarajah A, Doering M, Colditz GA
Breast Cancer Res 2023 Apr 24;25(1):45. doi: 10.1186/s13058-023-01636-1. PMID: 37095519 Free PMC Article

CYP1A1 and GSTP1 gene variations in breast cancer: a systematic review and case-control study.

Akhtar S, Mahjabeen I, Akram Z, Kayani MA
Fam Cancer 2016 Apr;15(2):201-14. doi: 10.1007/s10689-015-9849-1. PMID: 26545608

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

Family history and risk of endometrial cancer: a systematic review and meta-analysis.

Win AK, Reece JC, Ryan S
Obstet Gynecol 2015 Jan;125(1):89-98. doi: 10.1097/AOG.0000000000000563. PMID: 25560109

Peutz-Jeghers syndrome: a systematic review and recommendations for management.

Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, Bertario L, Blanco I, Bülow S, Burn J, Capella G, Colas C, Friedl W, Møller P, Hes FJ, Järvinen H, Mecklin JP, Nagengast FM, Parc Y, Phillips RK, Hyer W, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen JT, Clark SK, Hodgson SV
Gut 2010 Jul;59(7):975-86. doi: 10.1136/gut.2009.198499. PMID: 20581245

See all (66)

MedGen

National Center for Biotechnology Information

Send to:

Links from Gene

Familial cancer of breast

Disease characteristics

Additional description

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Curated

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

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

Breast Cancer, NCCN Guidelines Version 4.2022

NCCN Clinical Practice Guidelines in Oncology, Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic version 2.2022

American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, BRCA1 and BRCA2 Pathogenic Variants (Hereditary Breast and Ovarian Cancer), 2019

Suggested Reading

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Curated

Molecular resources

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Reviews

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