Faculty Advisor

Adams, David S.

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.

Publisher

Worcester Polytechnic Institute

Date Accepted

January 2009

Major

Biology and Biotechnology

Project Type

Major Qualifying Project

Accessibility

Unrestricted

Advisor Department

Biology and Biotechnology

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