title: BRCA1 mutations in familial ovarian cancer.
abstract: BRCA1 mutation research in ovarian and breast cancer 17q21-linked families has yielded a large number of germline sequence variations. Somatic mutations have been uncommonly reported. We screened 81 probands with primary ovarian, peritoneal, or fallopian tube carcinoma for BRCA1 mutations. The study group was intentionally biased by the inclusion of 29 probands with a family history of ovarian and/or breast carcinoma, 13 probands diagnosed on or before age 45, seven individuals with a metachronous breast cancer and 51 tumors with BRCA1 LOH. Tumor and/or germline DNA was screened by modified techniques of single-strand confirmation polymorphism analysis, and abnormal banding patterns were sequenced to confirm mutations. Twenty-one (25.9%) BRCA1 sequence variations were identified. Eight mutations were somatic including seven null mutations. Apart from classical hereditary ovarian/breast cancer, a family history of ovarian/breast cancer defines a subset of ovarian cancer individuals with a significant likelihood of either a germline or a somatic BRCA1 gene sequence variation.
authors.affiliation: Department of Obstetrics and Gynecology, The University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA.
authors.forename: T A
authors.initials: TA
authors.lastname: Lallas
authors.forename: T E
authors.initials: TE
authors.lastname: Buekers
authors.forename: R E
authors.initials: RE
authors.lastname: Buller
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019313:BRCA1 Protein / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000737:chemistry / Q000235:genetics; D005192:Family Health; D005260:Female; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D019656:Loss of Heterozygosity; D018895:Microsatellite Repeats; D008875:Middle Aged; D016254:Mutagenesis, Insertional; D009154:Mutation; D020125:Mutation, Missense; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion
chemical_list: D019313:BRCA1 Protein; D004273:DNA, Neoplasm