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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); 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

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
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
PDQ Cancer Genetics Editorial Board
2002 PMID: 26389258
PDQ Cancer Genetics Editorial Board
2002 PMID: 26389210

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
Lindor NM, Hopper J, Dowty J
Fam Cancer 2016 Jul;15(3):367-70. doi: 10.1007/s10689-016-9896-2. PMID: 26960971Free 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

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
Lindor NM, Hopper J, Dowty J
Fam Cancer 2016 Jul;15(3):367-70. doi: 10.1007/s10689-016-9896-2. PMID: 26960971Free 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

Therapy

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
Desreux JAC
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J Clin Oncol 2015 Jan 20;33(3):244-50. Epub 2014 Nov 3 doi: 10.1200/JCO.2014.56.2728. PMID: 25366685Free PMC Article
Romagnolo AP, Romagnolo DF, Selmin OI
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Evans DG, Fentiman IS, McPherson K, Asbury D, Ponder BA, Howell A
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Prognosis

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
Daly MB, Axilbund JE, Bryant E, Buys S, Eng C, Friedman S, Esserman LJ, Farrell CD, Ford JM, Garber JE, Jeter JM, Kohlmann W, Lynch PM, Marcom PK, Nabell LM, Offit K, Osarogiagbon RU, Pasche B, Reiser G, Sutphen R, Weitzel JN; National Comprehensive Cancer Network
J Natl Compr Canc Netw 2006 Feb;4(2):156-76. doi: 10.6004/jnccn.2006.0016. PMID: 16451772

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
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
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
Conz L, Mota BS, Bahamondes L, Teixeira Dória M, Françoise Mauricette Derchain S, Rieira R, Sarian LO
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Lima Pessoa E, Costa Vilella Dos Reis M, Sayuri Yamamoto T, Ribeiro Neto M, Ferraro O, Alves MJ, Guedes Coelho Lopes R
Breast J 2019 Jul;25(4):763-765. Epub 2019 May 20 doi: 10.1111/tbj.13341. PMID: 31111608
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
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

Table of contents

    Clinical resources

    Practice guidelines

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

    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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