Article
Detection of a novel mutation in exon 20 of the BRCA1 gene.
Cellular & molecular biology letters - 1 Dec 2013
Chakraborty Abhijit, Katarkar Atul, Chaudhuri Keya, Mukhopadhyay Ashis, Basak Jayasri
Abstract excerpt
Hereditary breast cancer constitutes 5-10% of all breast cancer cases. Inherited mutations in the BRCA1 and BRCA2 tumor-suppressor genes account for the majority of hereditary breast cancer cases. The BRCA1 C-terminal region (BRCT) has a functional duplicated globular domain, which helps with DNA damage repair and cell cycle checkpoint protein control. More than 100 distinct BRCA1 missense variants with...
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