Year: 2009
Type: article
Study design: Observational Study
Abstract: Although mutations in BRCA1 and 2 genes have previously been linked to breast cancer, mutations in genes encoding other proteins in the BRCA DNA repair pathway could also lead to this disease. This MQP used a candidate gene screening approach to identify potential genetic changes in proteins previously shown to interact with BRCA1 and/or BRCA2 in repair pathways. PCR amplicons were analyzed by high resolution melting analysis (HRMA) as a preliminary screen for mutations in six candidate genes (Mre11, Rad50, MCPH1, NBS1, DSS1, and BCCIP) amplified from 288 non-BRCA1/BRCA2 patient samples from high-risk families. Mutations in MCPH1 were further analyzed by DNA sequencing, which showed frameshift/nonsense and missense mutations, silent substitutions, and intronic variants in 29 patients.
Source: Digital WPI
Author: Cara C. Schafer
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W3208295357