Genetic Alterations in Familial Breast Cancer: Mapping and Cloning Genes Other Than BRCAl

摘要

The purpose of this project was to identify genes responsible for inherited predisposition to Breast cancer in families. The gene PTEN was successfully cloned by this project, and simultaneously by others (for a different reason) and proved to be such a gene. This project indicated that inherited mutations in PTEN predispose to breast cancer in women with the rare Cowden's syndrome. However, symptoms of that syndrome may be very subtle, so breast cancer may be the first sign to appear. Inherited mutations in PTEN predispose to multiple other cancers that may appear with breast cancer in these patients. Also, this project demonstrated the value of patients with germline translocations and breast cancer for the identification of tumor suppressor genes.