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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

A new scoring system in cancer genetics: application to criteria for BRCA1 and BRCA2 mutation screening.
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

Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants.
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
Brca1(L63X) (/+) rat is a novel model of human BRCA1 deficiency displaying susceptibility to radiation-induced mammary cancer.
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
BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.
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
Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers.
Alenezi WM, Fierheller CT, Recio N, Tonin PN
Genes (Basel) 2020 Jul 27;11(8) doi: 10.3390/genes11080856. PMID: 32726901Free PMC Article
A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes.
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

Diagnosis

Metastatic colorectal cancer as the primary phenotype in a hereditary breast and ovarian cancer patient with Germline BRCA1 mutation: a case report.
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
Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants.
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
Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.
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
A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes.
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
Systemic therapy options in BRCA mutation-associated breast cancer.
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

Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.
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
Systemic therapy options in BRCA mutation-associated breast cancer.
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

Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.
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
A new scoring system in cancer genetics: application to criteria for BRCA1 and BRCA2 mutation screening.
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
Systemic therapy options in BRCA mutation-associated breast cancer.
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
Reduction of BRCA1 protein expression in Japanese sporadic breast carcinomas and its frequent loss in BRCA1-associated cases.
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

Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family.
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
BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.
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
BAP1 Syndrome - Predisposition to Malignant Mesothelioma, Skin and Uveal Melanoma, Renal and Other Cancers.
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
Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.
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
A new scoring system in cancer genetics: application to criteria for BRCA1 and BRCA2 mutation screening.
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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