Article
Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study.
American journal of human genetics - 1 Jun 1998
Neuhausen S L, Godwin A K, Gershoni-Baruch R, Schubert E, Garber J, Stoppa-Lyonnet D, Olah E, Csokay B, Serova O, Lalloo F, Osorio A, Stratton M, Offit K, Boyd J, Caligo M A, Scott R J, Schofield A, Teugels E, Schwab M, Cannon-Albright L, Bishop T, Easton D, Benitez J, King M C, Ponder B A, Weber B, Devilee P, Borg A, Narod S A, Goldgar D
Abstract excerpt
Several BRCA2 mutations are found to occur in geographically diverse breast and ovarian cancer families. To investigate both mutation origin and mutation-specific phenotypes due to BRCA2, we constructed a haplotype of 10 polymorphic short tandem-repeat (STR) markers flanking the BRCA2 locus, in a set of 111 breast or breast/ovarian cancer families selected for having one of nine recurrent BRCA2 mutations. Six of...
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