Identification and Genetic Mapping of Genes for Hereditary Breast and Ovarian Cancer in Families Linked to BRCA1
Annual rept 22 Aug 96-21 Aug 97
UTAH UNIV SALT LAKE CITY
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We have continued to screen for BRCA2 mutations in our high-risk breast cancer kindreds and now have identified 10 deleterious mutations, 5 missense mutations of unknown significance and 3 polymorphisms. Our collaborator has screened an additional 150 families and identified 8 deleterious mutations and 1 missense mutation of unknown significance. There are an additional five families which are clearly linked to BRCA2 for which no mutations have been identified. We have begun to examine cases in those families for large deletions andor rearrangements by probing Southern blots with 14 probes spaced within BRCA2.
- Genetic Engineering and Molecular Biology
- Medicine and Medical Research