## Abstract The __BRCA1__ and __BRCA2__ genes are responsible for a high proportion of familial breast cancer; germline mutations in these genes confer a lifetime risk of about 70% for developing breast cancer. Most of the described deleterious mutations are small deletions or insertions that origi
Loss of heterozygosity studies in tumors from families with breast-ovarian cancer syndrome
✍ Scribed by Moraima Zelada-Hedman; Marta Torroella; Roberto Mesquita; Magnus Nordenskjöld; Lambert Skoog; Annika Lindblom
- Publisher
- Springer
- Year
- 1994
- Tongue
- English
- Weight
- 488 KB
- Volume
- 94
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
✦ Synopsis
A gene (BRCA1) predisposing for familial breast and ovarian cancer has been mapped to chromosome band 17q12-21. Based on the observation that ovarian tumors from families with breast and ovarian cancer lose the wild-type allele in the region for the BRCA1 locus, it has been suggested that the gene functions as a tumor suppressor gene. We have studied chromosomal deletions in the BRCA1 region in seven breast tumors, three ovarian tumors, one bladder cancer, and one colon cancer from patients in six families with breast-ovarian cancer, in order to test the hypothesis of the tumor suppressor mechanism at this locus. We have found a low frequency of loss of heterozygosity at this region, and our results do not support the idea that BRCA1 is a tumor suppressor gene. Alternatively, the disease segregating in these families is linked to one or more different loci.
📜 SIMILAR VOLUMES
## Abstract Loss of heterozygosity (LOH) was evaluated in 174 breast and ovarian tumors derived from 94 families with at least 3 first‐degree relatives affected with either of these cancers. By linkage analysis 26 families were identified as having a high posterior probability of being due to __BRC
We conducted linkage analysis of 64 multiple-case families with early-onset bilateral breast cancer using DNA markers on chromosome band 1p36. Evidence against tight linkage was obtained using a dominant model for transmission (summary LOD scores at recombination fraction ϭ 0.000001 were -4.71 for D
In order to study the relationship between benign breast changes, a family history of breast cancer and breast cancer, extratumoral breast tissue from 1259 breast-cancer patients in the WHO Collaborative Study of Neoplasia and Contraceptives was classified histologically. The occurrence of ductal hy