Journal of Menopausal Medicine  2017;23(1):69-73

doi:10.6118/jmm.2017.23.1.69

Case Report of Menopausal Woman Diagnosed with Endometrial Cancer after Colon Cancer with Germline Mutation in MSH6 in Korea.

Hyun Jung LEE 1 ; Min Hee LEE ; Min Chul CHOI ; Sang Geun JUNG ; Won Duk JOO ; Tae Hoen KIM ; Chan LEE ; Ja Hyun JANG

Affiliations

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Keywords

Endometrial neoplasms; Germ-line mutation; Hereditary nonpolyposis; Lynch syndrome

Country

Republic of Korea

Language

English

Abstract

We present a case of an endometrial cancer patient with germline mutation in MutS homolog 6 (MSH6), associated with Lynch syndrome. A 60-year-old Korean woman had a personal history of colon cancer 23 years ago. She also had a family history of endometrial cancer and colon cancer of her sisters and brothers. Immunohistochemistry was negative for MutL homolog 1 (MLH1) and positive for MutS homolog 2 (MSH2). Based on these findings, she underwent genetic counseling and testing that revealed a frameshift germline mutation at MSH6 (c. 3261dupC).