Somatic mutations in the BRCA1 gene in sporadic ovarian tumours
- 1 April 1995
- journal article
- Published by Springer Nature in Nature Genetics
- Vol. 9 (4) , 439-443
- https://doi.org/10.1038/ng0495-439
Abstract
The BRCA1 gene on chromosome 17q21 is responsible for an autosomal dominant syndrome of increased susceptibility to breast and ovarian cancer but no somatic mutations in tumours have yet been described. To study the potential role of BRCA1 in sporadic carcinogenesis, we analysed the genomic DNA of tumour and normal fractions of 47 ovarian cancers for mutations in BRCA1 using the single-strand conformation polymorphism technique. We now describe somatic mutations in the DNA of four tumours which also had loss of heterozygosity (LOH) at a BRCA1 intragenic marker. Our data support a tumour suppressor mechanism for BRCA1; somatic mutations and LOH may result in inactivation of BRCA1 in at least a small number of ovarian cancers.Keywords
This publication has 15 references indexed in Scilit:
- A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screeningPublished by American Medical Association (AMA) ,1995
- Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten familiesNature Genetics, 1994
- Common origins of BRCA1 mutations in Canadian breast and ovarian cancer familiesNature Genetics, 1994
- Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancerNature Genetics, 1994
- A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1Science, 1994
- BRCA1 Mutations in Primary Breast and Ovarian CarcinomasScience, 1994
- Risks of cancer in BRCA1-mutation carriersThe Lancet, 1994
- Genetic analysis of the BRCA1 region in a large breast/ovarian family: refinement of the minimal region containing BRCA1Human Molecular Genetics, 1993
- Allele losses in the region 17q12–21 in familial breast and ovarian cancer involve the wild–type chromosomeNature Genetics, 1992
- Linkage of Early-Onset Familial Breast Cancer to Chromosome 17q21Science, 1990