Importance of PCR-based tumor testing in the evaluation of Lynch Syndrome–associated endometrial cancer

AS Bruegl, A Kernberg… - Advances in anatomic …, 2017 - journals.lww.com
Lynch syndrome (LS) is a hereditary cancer syndrome caused by a germline mutation in a
DNA mismatch repair gene, usually MLH1, MSH2, MSH6, or PMS2. The most common
cancers associated with LS are colorectal adenocarcinoma and endometrial carcinoma.
Identification of women with LS-associated endometrial cancer is important, as these women
and their affected siblings and children are at-risk of developing these same cancers.
Germline testing of all endometrial cancer patients is not cost effective, and screening using …