Genetics of PTEN in Cowden Syndrome and Sporadic Breast Cancer
Annual rept. 1 Oct 1998-30 Sep 1999
OHIO STATE UNIV RESEARCH FOUNDATION COLUMBUS
Pagination or Media Count:
Cowden syndrome CS is an autosomal dominant disorder characterized by multiple hamartomas and a high risk of breast, thyroid and other cancers. The susceptibility gene is PTEN. The edict of this grant is to determine the genetic role of PTEN in non-CS CS-like families or individuals. The PI has accrued 15 site specific breast cancer families, without known BRCA1 and BRCA2 mutations. No intragenic PTEN mutations were found in these families. To date, 70 CS-like families and individuals have been accrued. One occult germline PTEN intragenic mutation was found among these families. The mutation positive family has breast, thyroid and endometrial cancers. Unfortunately, only 5 other families have endometrial carcinoma. In summary, at least 1.5 of non-CS CS-like families carry occult PTEN mutations. This has implications for the proband and family with respect to cancer risk and surveillance. Our preliminary data may suggest that endometrial cancer is a true component of CS and the data suggests that the International Cowden Consortium clinical diagnostic criteria are robust. Further accrual of these CS-like families, enriching for endometrial cancer, will be achieved and PTEN analysis, including the promoter, pursued.
- Genetic Engineering and Molecular Biology
- Medicine and Medical Research