Germline mutations within the adenomatous polyposis coli (APC) gene, a tumor suppressor gene, are responsible for most cases of familial adenomatous polyposis (FAP), an autosomal dominantly inherited predisposition to colorectal cancer. To date, more than 300 germ-line causative mutations within thi
Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer
โ Scribed by Castilla, Lucio H.; Couch, Fergus J.; Erdos, Michael R.; Hoskins, Kent F.; Calzone, Kathy; Garber, Judy E.; Boyd, Jeff; Lubin, Matthew B.; Deshano, Michelle L.; Brody, Lawrence C.
- Book ID
- 109918862
- Publisher
- Nature Publishing Group
- Year
- 1994
- Tongue
- English
- Weight
- 681 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1061-4036
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๐ SIMILAR VOLUMES
Mutations in the familial early-onset breast cancer gene (BRCA1) account for approximately 2-5% of all breast cancer cases (Easton et al., 1993). Since the isolation of the BRCA1 gene in 1994, many mutations have been identified. We report here a total of 254 BRCA1 mutations, 132 (52%) of which are
Germline mutations in BRCA1 and BRCA2 account for majority of hereditary breast and ovarian cancer. The complete coding sequence analysis of both genes was carried out in 197 breast/ovarian cancer patients from high-risk families and 53 patients with sporadic breast/ovarian cancer. In summary, 59 mu
Here we report the study on BRCA1 and BRCA2 mutations in 12 Thai breast and/or ovarian cancer families and 6 early-onset breast or breast/ovarian cancer cases without a family history of cancer. Five distinct rare alterations were identified in each gene: four introducing premature stop codons, one