title: Loss of heterozygosity at BRCA2 in a ductal carcinoma in situ and three invasive breast carcinomas in a family with a germline BRCA2 mutation.
abstract: We have examined a family with a germline BRCA2 mutation in three cases of invasive breast cancer and one case of ductal carcinoma in situ (DCIS). Loss of heterozygosity (LOH) has been demonstrated at the BRCA2 locus in all cases. This result may suggest that the germline mutation in BRCA2 is the initiating step of DCIS and support the theory that DCIS is a precursor of invasive breast carcinoma in hereditary breast cancer.
authors.affiliation: Department of Clinical Genetics and Clinical Biochemistry, KKA, Odense University Hospital, Sdr Boulevard 29, Denmark. mads.thomassen@ouh.fyns-amt.dk
authors.forename: Mads
authors.initials: M
authors.lastname: Thomassen
authors.forename: Torben A
authors.initials: TA
authors.lastname: Kruse
authors.forename: Karen Ege
authors.initials: KE
authors.lastname: Olsen
authors.forename: A
authors.initials: A
authors.lastname: Borg
authors.forename: Anne Marie
authors.initials: AM
authors.lastname: Gerdes
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D002285:Carcinoma, Intraductal, Noninfiltrating / Q000235:genetics*; D005260:Female; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D009154:Mutation; D010375:Pedigree