Universal Screening for DNA Mismatch Repair Deficiency in Patients with Endometrial Cancer and Their Relatives

PRIMARY OBJECTIVES:

I. Molecular classification of tumor abnormalities through innovative upfront next-generation sequencing.

II. Identify endometrial cancer (EC) patients suspected of having Lynch syndrome (LS).

III. Identify molecular signatures that may be associated with favorable response to specific treatments (including chemotherapeutic agents, non-surgical options, and novel clinical trials [in particular, patients with mismatch repair (MMR)-deficient or POLE-mutant tumors]).

IV. Determine if recurrence likelihood can be predicted from molecular signature.

V. Identify EC patients with select molecular signatures for recruitment to long-term follow-up, cancer prevention, and treatment studies.

VI. Comprehensive approach to genetic risk assessment and management.

VII. All EC patients will have germline genetic testing for hereditary cancer syndromes using a clinically available commercial test.

VIII. Provide local access to genetic counseling for patients with harmful germline mutations.

IX. Facilitate and improve cascade testing in at-risk relatives.

X. Identify participants with hereditary cancer risk for recruitment to long-term follow-up, cancer prevention, and treatment studies.

OUTLINE:

Patients with endometrial cancer undergo tumor screening via next-generation sequencing of tumor samples. Patients testing positive for hereditary tumors or Lynch syndrome and their relatives may undergo genetic counseling and testing.