1.
Int J Cancer
; 68(2): 188-92, 1996 Oct 09.
Article
in English
| MEDLINE
| ID: mdl-8900426
ABSTRACT
We analyzed germline mutations of the BRCA1 gene in 20 German breast/ovarian-cancer families. BRCA1 mutations co-segregating with breast-cancer susceptibility were identified in 3 of these families. All mutations were found to generate a premature stop codon leading to the synthesis of truncated BRCA1 proteins of different length. Nine polymorphisms were detected in BRCA1, 4 of which have not been described previously. Analysis of familial tumors for LOH revealed that only the disease-related allele of BRCA1 was present.
Subject(s)
Breast Neoplasms/genetics , Family , Genes, BRCA1/genetics , Germ-Line Mutation/genetics , Ovarian Neoplasms/genetics , Adult , Alleles , Disease Susceptibility , Female , Germany/ethnology , Humans , Middle Aged , Pedigree
2.
Hum Mutat
; 8(4): 393, 1996.
Article
in English
| MEDLINE
| ID: mdl-8956054