Sporadic And Hereditary Context Of Endometrial Carcinoma

Rarely, endometrial carcinoma presents as an organ specific manifestation of a more generalized heritable tumor syndrome in which germline transmission of a mutant gene predisposes to endometrial carcinoma. The vast majority of endometrial carcinomas, more than 98%, are sporadic and occur outside of the context of a heritable syndromic presentation. Nonetheless, endometrial cancer syndromes are of interest because of the need to provide genetic counseling to families of affected individuals and as examples of tumor sequelae of individual gene inactivation. Patients with hereditary defects of the PTEN (Cowden's syndrome) (8) or mismatch repair (Hereditary nonpolyposis colon cancer) (12,13) pathways have elevated endometrioid endometrial cancer rates.

0 0

Post a comment