Genomics & Genetics Weekly
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Genetics & Genomics
Researchers from Cleveland Clinic discuss findings in genetics & genomics
July 4th, 2008
According to recent research from the United States, "Germline mutations in the gene encoding phosphatase and tensin homolog deleted on chromosome ten (PTEN [MIM 601728]) are associated with a number of clinically distinct heritable cancer syndromes, including both Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS). Seemingly identical pathogenic PTEN mutations have been observed in patients with CS and BRRS, as well as in patients with incomplete features of CS, referred to as CS-like (CSL) patients." "These observations indicate that additional, unidentified, genetic and epigenetic factors act as phenotypic modifiers in these disorders. These genetic...
Source: Genomics & Genetics Weekly (2008-07-04)
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