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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.
 
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); SLC22A18 (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

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.

Term Hierarchy

Suggested Reading

PubMed

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
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Recent clinical studies

Etiology

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
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J Magn Reson Imaging 2019 Aug;50(2):377-390. Epub 2019 Jan 18 doi: 10.1002/jmri.26654. PMID: 30659696Free PMC Article
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: 29635390Free PMC Article
Mansfield SA, Pilarski R, Agnese DM
Fam Cancer 2017 Jul;16(3):407-410. doi: 10.1007/s10689-016-9959-4. PMID: 27988859
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

Diagnosis

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: 30659696Free PMC Article
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: 30156052Free PMC Article
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: 29635390Free PMC Article
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
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
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Therapy

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
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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
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Prognosis

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
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: 30659696Free PMC Article
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: 28578505Free PMC Article
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
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: 26746459Free PMC Article

Clinical prediction guides

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: 37095519Free PMC Article
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
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: 30659696Free PMC Article
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: 26746459Free PMC Article
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

Recent systematic reviews

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: 37095519Free PMC Article
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
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
Win AK, Reece JC, Ryan S
Obstet Gynecol 2015 Jan;125(1):89-98. doi: 10.1097/AOG.0000000000000563. PMID: 25560109
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

Supplemental Content

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    Clinical resources

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    Curated

    • 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

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