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.

• This report represents the work of one or more WPI undergraduate students submitted to the faculty as evidence of completion of a degree requirement. WPI routinely publishes these reports on its website without editorial or peer review.

Creator

• Schafer, Cara C

Contributors

• Szabo, Csilla

Publisher

• Worcester Polytechnic Institute

Identifier

• E-project-011309-162517

Advisor

• Adams, David S.

Year

• 2009

Sponsor

• Mayo Graduate School College of Medicine

Date created

• 2009-01-13

Resource type

• Major Qualifying Project

Major

• Biology & Biotechnology

Rights statement

• In Copyright

Last modified

• 2023-09-19