Article
Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer.
Human mutation - 1 Dec 2007
Ramus Susan J, Harrington Patricia A, Pye Carole, DiCioccio Richard A, Cox Mark J, Garlinghouse-Jones Kim, Oakley-Girvan Ingrid, Jacobs Ian J, Hardy Richard M, Whittemore Alice S, Ponder Bruce A J, Piver M Steven, Pharoah Paul D P, Gayther Simon A
Abstract excerpt
A total of 283 epithelial ovarian cancer families from the United Kingdom (UK) and the United States (US) were screened for coding sequence changes and large genomic alterations (rearrangements and deletions) in the BRCA1 and BRCA2 genes. Deleterious BRCA1 mutations were identified in 104 families (37%) and BRCA2 mutations in 25 families (9%). Of the 104 BRCA1 mutations, 12 were large genomic alterations; thus...
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