title: A screening for BRCA1 mutations in breast and breast-ovarian cancer families from the Stockholm region.
abstract: To identify BRCA1 germ-line mutations in the breast and breast-ovarian cancer families in the Stockholm region, a total of 127 families were screened. DNA from 174 patients from these families were studied using various mutation screening techniques, followed by direct DNA sequencing. Mutations were identified in 7 of 20 families with breast and ovarian cancer and in one family with ovarian cancer only, whereas only 1 family of 106 with breast cancer showed a mutation. Thus, germ-line mutations in BRCA1 were found in one-third of the families with both breast and ovarian cancer, but in only 1% of the breast cancer families. The low frequency of germ-line mutations in the site-specific breast cancer families means that other genes are likely to segregate in these families.
authors.affiliation: Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
authors.forename: M
authors.initials: M
authors.lastname: Zelada-Hedman
authors.forename: B
authors.initials: B
authors.lastname: Wasteson Arver
authors.forename: A
authors.initials: A
authors.lastname: Claro
authors.forename: J
authors.initials: J
authors.lastname: Chen
authors.forename: B
authors.initials: B
authors.lastname: Werelius
authors.forename: H
authors.initials: H
authors.lastname: Kok
authors.forename: K
authors.initials: K
authors.lastname: Sandelin
authors.forename: S
authors.initials: S
authors.lastname: Håkansson
authors.forename: T I
authors.initials: TI
authors.lastname: Andersen
authors.forename: A
authors.initials: A
authors.lastname: Borg
authors.forename: A L
authors.initials: AL
authors.lastname: Børresen Dale
authors.forename: A
authors.initials: A
authors.lastname: Lindblom
mesh_terms: D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D019398:Genes, BRCA1 / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000235:genetics; D018095:Germ-Line Mutation; D006801:Humans; D008403:Mass Screening; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D013548:Sweden / Q000453:epidemiology