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BRCA1 NM_007294.3:c.5265_5266insC

MedGen UID:
1386529
•Concept ID:
C4321354
•
Cell or Molecular Dysfunction
Synonyms: BRCA-1 c.5265_5266insC; BRCA1 5382_5383insC,5382insC; BRCA1 5382insC; BRCA1 c.5265_5266insC; BRCA1 c.5266dup; BRCA1 c.5266dupC; Breast Cancer 1 c.5265_5266insC; Breast Cancer 1, Early Onset c.5265_5266insC; Breast Cancer Type 1 Susceptibility c.5265_5266insC; BROVCA1 c.5265_5266insC; NM_007294.3:c.5265_5266insC; NM_007294.3:c.5266dup; NM_007294.3c.5266dupC

Definition

An insertion of a single cytosine nucleotide between positions 5265 and 5266 of the coding sequence of the BRCA1 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBRCA1 NM_007294.3:c.5265_5266insC

Recent clinical studies

Etiology

Genetic Variations, Exposure to Persistent Organic Pollutants and Breast Cancer Risk - A Greenlandic Case-Control Study.
Wielsøe M, Eiberg H, Ghisari M, Kern P, Lind O, Bonefeld-Jørgensen EC
Basic Clin Pharmacol Toxicol 2018 Sep;123(3):335-346. Epub 2018 Apr 23 doi: 10.1111/bcpt.13002. PMID: 29510000

Therapy

Genetic Variations, Exposure to Persistent Organic Pollutants and Breast Cancer Risk - A Greenlandic Case-Control Study.
Wielsøe M, Eiberg H, Ghisari M, Kern P, Lind O, Bonefeld-Jørgensen EC
Basic Clin Pharmacol Toxicol 2018 Sep;123(3):335-346. Epub 2018 Apr 23 doi: 10.1111/bcpt.13002. PMID: 29510000

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