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BRCA1-Associated Hereditary Breast and Ovarian Cancer Syndrome

MedGen UID:
231922
Concept ID:
C1332442
Neoplastic Process
Synonyms: BRCA1 Syndrome; Early Onset Breast Ovarian Cancer Syndrome

Definition

An autosomal dominant inherited syndrome caused by deleterious mutations in the BRCA1 gene. Patients are at high risk of developing breast cancer, ovarian cancer, and other cancers including cervical, endometrial, fallopian tube, and colon cancer. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBRCA1-Associated Hereditary Breast and Ovarian Cancer Syndrome

Professional guidelines

PubMed

Bonaïti B, Alarcon F, Andrieu N, Bonadona V, Dondon MG, Pennec S, Stoppa-Lyonnet D, Bonaïti-Pellié C, Perdry H
J Med Genet 2014 Feb;51(2):114-21. Epub 2013 Dec 16 doi: 10.1136/jmedgenet-2013-101674. PMID: 24343917

Recent clinical studies

Etiology

Jankowski M, Daca-Roszak P, Obracht-Prondzyński C, Płoski R, Lipska-Ziętkiewicz BS, Ziętkiewicz E
J Appl Genet 2022 Dec;63(4):691-701. Epub 2022 Aug 15 doi: 10.1007/s13353-022-00713-z. PMID: 35971028Free PMC Article
Nakamura Y, Kubota J, Nishimura Y, Nagata K, Nishimura M, Daino K, Ishikawa A, Kaneko T, Mashimo T, Kokubo T, Takabatake M, Inoue K, Fukushi M, Arai M, Saito M, Shimada Y, Kakinuma S, Imaoka T
Cancer Sci 2022 Oct;113(10):3362-3375. Epub 2022 Aug 21 doi: 10.1111/cas.15485. PMID: 35851737Free PMC Article
Rofes P, Del Valle J, Torres-Esquius S, Feliubadaló L, Stradella A, Moreno-Cabrera JM, López-Doriga A, Munté E, De Cid R, Campos O, Cuesta R, Teulé Á, Grau È, Sanz J, Capellá G, Díez O, Brunet J, Balmaña J, Lázaro C
Genes (Basel) 2021 Jan 23;12(2) doi: 10.3390/genes12020150. PMID: 33498765Free PMC Article
Alenezi WM, Fierheller CT, Recio N, Tonin PN
Genes (Basel) 2020 Jul 27;11(8) doi: 10.3390/genes11080856. PMID: 32726901Free PMC Article
Arai M, Yokoyama S, Watanabe C, Yoshida R, Kita M, Okawa M, Sakurai A, Sekine M, Yotsumoto J, Nomura H, Akama Y, Inuzuka M, Nomizu T, Enomoto T, Nakamura S
J Hum Genet 2018 Apr;63(4):447-457. Epub 2017 Nov 8 doi: 10.1038/s10038-017-0355-1. PMID: 29176636Free PMC Article

Diagnosis

Liu Y, Zhu J, Wei X, Yang D, Li S, Qian X, Li L
J Ovarian Res 2022 Dec 3;15(1):127. doi: 10.1186/s13048-022-01069-y. PMID: 36463302Free PMC Article
Jankowski M, Daca-Roszak P, Obracht-Prondzyński C, Płoski R, Lipska-Ziętkiewicz BS, Ziętkiewicz E
J Appl Genet 2022 Dec;63(4):691-701. Epub 2022 Aug 15 doi: 10.1007/s13353-022-00713-z. PMID: 35971028Free PMC Article
Arai M, Yokoyama S, Watanabe C, Yoshida R, Kita M, Okawa M, Sakurai A, Sekine M, Yotsumoto J, Nomura H, Akama Y, Inuzuka M, Nomizu T, Enomoto T, Nakamura S
J Hum Genet 2018 Apr;63(4):447-457. Epub 2017 Nov 8 doi: 10.1038/s10038-017-0355-1. PMID: 29176636Free PMC Article
Buys SS, Sandbach JF, Gammon A, Patel G, Kidd J, Brown KL, Sharma L, Saam J, Lancaster J, Daly MB
Cancer 2017 May 15;123(10):1721-1730. Epub 2017 Jan 13 doi: 10.1002/cncr.30498. PMID: 28085182
Bayraktar S, Glück S
Breast Cancer Res Treat 2012 Sep;135(2):355-66. Epub 2012 Jul 12 doi: 10.1007/s10549-012-2158-6. PMID: 22791366

Therapy

Arai M, Yokoyama S, Watanabe C, Yoshida R, Kita M, Okawa M, Sakurai A, Sekine M, Yotsumoto J, Nomura H, Akama Y, Inuzuka M, Nomizu T, Enomoto T, Nakamura S
J Hum Genet 2018 Apr;63(4):447-457. Epub 2017 Nov 8 doi: 10.1038/s10038-017-0355-1. PMID: 29176636Free PMC Article
Bayraktar S, Glück S
Breast Cancer Res Treat 2012 Sep;135(2):355-66. Epub 2012 Jul 12 doi: 10.1007/s10549-012-2158-6. PMID: 22791366

Prognosis

Arai M, Yokoyama S, Watanabe C, Yoshida R, Kita M, Okawa M, Sakurai A, Sekine M, Yotsumoto J, Nomura H, Akama Y, Inuzuka M, Nomizu T, Enomoto T, Nakamura S
J Hum Genet 2018 Apr;63(4):447-457. Epub 2017 Nov 8 doi: 10.1038/s10038-017-0355-1. PMID: 29176636Free PMC Article
Bonaïti B, Alarcon F, Andrieu N, Bonadona V, Dondon MG, Pennec S, Stoppa-Lyonnet D, Bonaïti-Pellié C, Perdry H
J Med Genet 2014 Feb;51(2):114-21. Epub 2013 Dec 16 doi: 10.1136/jmedgenet-2013-101674. PMID: 24343917
Bayraktar S, Glück S
Breast Cancer Res Treat 2012 Sep;135(2):355-66. Epub 2012 Jul 12 doi: 10.1007/s10549-012-2158-6. PMID: 22791366
Yoshikawa K, Honda K, Inamoto T, Shinohara H, Yamauchi A, Suga K, Okuyama T, Shimada T, Kodama H, Noguchi S, Gazdar AF, Yamaoka Y, Takahashi R
Clin Cancer Res 1999 Jun;5(6):1249-61. PMID: 10389907

Clinical prediction guides

Chan JM, Clendenning M, Joseland S, Georgeson P, Mahmood K, Joo JE, Walker R, Como J, Preston S, Chai SM, Chu YL, Meyers AL, Pope BJ, Duggan D, Fink JL, Macrae FA, Rosty C, Winship IM, Jenkins MA, Buchanan DD
Fam Cancer 2024 Mar;23(1):9-21. Epub 2023 Dec 8 doi: 10.1007/s10689-023-00351-2. PMID: 38063999Free PMC Article
Rofes P, Del Valle J, Torres-Esquius S, Feliubadaló L, Stradella A, Moreno-Cabrera JM, López-Doriga A, Munté E, De Cid R, Campos O, Cuesta R, Teulé Á, Grau È, Sanz J, Capellá G, Díez O, Brunet J, Balmaña J, Lázaro C
Genes (Basel) 2021 Jan 23;12(2) doi: 10.3390/genes12020150. PMID: 33498765Free PMC Article
Foretová L, Navrátilová M, Svoboda M, Házová J, Vašíčková P, Sťahlová EH, Fabian P, Schneiderová M, Macháčková E
Klin Onkol 2019 Summer;32(Supplementum2):118-122. doi: 10.14735/amko2019S118. PMID: 31409087
Arai M, Yokoyama S, Watanabe C, Yoshida R, Kita M, Okawa M, Sakurai A, Sekine M, Yotsumoto J, Nomura H, Akama Y, Inuzuka M, Nomizu T, Enomoto T, Nakamura S
J Hum Genet 2018 Apr;63(4):447-457. Epub 2017 Nov 8 doi: 10.1038/s10038-017-0355-1. PMID: 29176636Free PMC Article
Bonaïti B, Alarcon F, Andrieu N, Bonadona V, Dondon MG, Pennec S, Stoppa-Lyonnet D, Bonaïti-Pellié C, Perdry H
J Med Genet 2014 Feb;51(2):114-21. Epub 2013 Dec 16 doi: 10.1136/jmedgenet-2013-101674. PMID: 24343917

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