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Germline BRCA1 Gene Mutation

MedGen UID:
1656631
•Concept ID:
C4725885
•
Cell or Molecular Dysfunction
Synonyms: Germline BRCA1 Mutation; Germline Breast Cancer Type 1 Susceptibility Gene Mutation; Germline BROVCA1 Gene Mutation

Definition

A change in the nucleotide sequence of the BRCA1 gene that originates in the gametes. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGermline BRCA1 Gene Mutation

Professional guidelines

PubMed

Triple-negative breast cancer: epidemiology, molecular mechanisms, and modern vaccine-based treatment strategies.
Karim AM, Eun Kwon J, Ali T, Jang J, Ullah I, Lee YG, Park DW, Park J, Jeang JW, Kang SC
Biochem Pharmacol 2023 Jun;212:115545. Epub 2023 Apr 11 doi: 10.1016/j.bcp.2023.115545. PMID: 37044296
Current and future diagnostic and treatment strategies for patients with invasive lobular breast cancer.
Van Baelen K, Geukens T, Maetens M, Tjan-Heijnen V, Lord CJ, Linn S, Bidard FC, Richard F, Yang WW, Steele RE, Pettitt SJ, Van Ongeval C, De Schepper M, Isnaldi E, Nevelsteen I, Smeets A, Punie K, Voorwerk L, Wildiers H, Floris G, Vincent-Salomon A, Derksen PWB, Neven P, Senkus E, Sawyer E, Kok M, Desmedt C
Ann Oncol 2022 Aug;33(8):769-785. Epub 2022 May 21 doi: 10.1016/j.annonc.2022.05.006. PMID: 35605746
An Overview of PARP Inhibitors for the Treatment of Breast Cancer.
Cortesi L, Rugo HS, Jackisch C
Target Oncol 2021 May;16(3):255-282. Epub 2021 Mar 12 doi: 10.1007/s11523-021-00796-4. PMID: 33710534Free PMC Article

Recent clinical studies

Etiology

BRCA1 mutation influences progesterone response in human benign mammary organoids.
Davaadelger B, Choi MR, Singhal H, Clare SE, Khan SA, Kim JJ
Breast Cancer Res 2019 Nov 26;21(1):124. doi: 10.1186/s13058-019-1214-0. PMID: 31771627Free PMC Article
Low expression of bcl-2 in Brca1-associated breast cancers.
Freneaux P, Stoppa-Lyonnet D, Mouret E, Kambouchner M, Nicolas A, Zafrani B, Vincent-Salomon A, Fourquet A, Magdelenat H, Sastre-Garau X
Br J Cancer 2000 Nov;83(10):1318-22. doi: 10.1054/bjoc.2000.1438. PMID: 11044356Free PMC Article

Prognosis

BRCA1 mutation influences progesterone response in human benign mammary organoids.
Davaadelger B, Choi MR, Singhal H, Clare SE, Khan SA, Kim JJ
Breast Cancer Res 2019 Nov 26;21(1):124. doi: 10.1186/s13058-019-1214-0. PMID: 31771627Free PMC Article
CCND1 and ZNF217 gene amplification is equally frequent in BRCA1 and BRCA2 associated and non-BRCA breast cancer.
Plevova P, Cerna D, Balcar A, Foretova L, Zapletalova J, Silhanova E, Curik R, Dvorackova J
Neoplasma 2010;57(4):325-32. doi: 10.4149/neo_2010_04_325. PMID: 20429623

Clinical prediction guides

CCND1 and ZNF217 gene amplification is equally frequent in BRCA1 and BRCA2 associated and non-BRCA breast cancer.
Plevova P, Cerna D, Balcar A, Foretova L, Zapletalova J, Silhanova E, Curik R, Dvorackova J
Neoplasma 2010;57(4):325-32. doi: 10.4149/neo_2010_04_325. PMID: 20429623
Low expression of bcl-2 in Brca1-associated breast cancers.
Freneaux P, Stoppa-Lyonnet D, Mouret E, Kambouchner M, Nicolas A, Zafrani B, Vincent-Salomon A, Fourquet A, Magdelenat H, Sastre-Garau X
Br J Cancer 2000 Nov;83(10):1318-22. doi: 10.1054/bjoc.2000.1438. PMID: 11044356Free PMC Article

Supplemental Content

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