Linkage analysis of 56 multiplex families excludes the Cowden disease gene PTEN as a major contributor to familial breast cancer.
Year: 1999
Type: article
Abstract: Editor—A number of genes are now known to be involved in inherited susceptibility to breast cancer. In the context of multiple case families, the most well identified and characterised genes are BRCA1 on 17q1 2 and BRCA2 on 13q.3 4 Both linkage and mutation studies indicate that these genes account for the large majority of families segregating both early age of onset breast cancer and ovarian cancer, and those with both male and female breast cancer cases. However, other studies5-8 indicate that BRCA1 and BRCA2 account for less than half of site specific breast cancer families, suggesting that other major susceptibility genes may be important in this group. We therefore initiated a collaborative genomic search, using a large panel of female breast cancer only families in which germline mutations in the BRCA1 and BRCA2 coding sequence were not detected and in which there was no strong evidence of linkage to BRCA1 and BRCA2 . In this letter, we will report the results of linkage analysis in the Cowden region previously implicated in susceptibility to breast cancer.
Cowden disease (CD) is a rare, autosomal dominant syndrome characterised by multiple hamartomatous lesions of the skin, mucous membranes, intestinal polyps, and an increased risk of breast …
Source: PubMed Central
Institution: Johns Hopkins University
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W1935250381