MUTATION SCREENING OF CANDIDATE BREAST CANCER SUSCEPTIBILITY GENES IN NON-BRCA1/2 FAMILIES
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open in viewerAlthough 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
- Contributors
- Publisher
- Identifier
- E-project-011309-162517
- Advisor
- Year
- 2009
- Sponsor
- Date created
- 2009-01-13
- Resource type
- Major
- Rights statement
- Last modified
- 2023-09-19
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Permanent link to this page: https://digital.wpi.edu/show/qj72p869v