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

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

1. Comprehensive Gynecologic Cancer Center, Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University, Seongnam, Korea. oursk79@cha.ac.kr
Publication Type:Case Report
Keywords: Endometrial neoplasms; Germ-line mutation; Hereditary nonpolyposis; Lynch syndrome
MeSH: Colon*; Colonic Neoplasms*; Colorectal Neoplasms, Hereditary Nonpolyposis; Endometrial Neoplasms*; Female; Genetic Counseling; Germ-Line Mutation*; Humans; Immunohistochemistry; Korea*; Middle Aged; Siblings
From:Journal of Menopausal Medicine 2017;23(1):69-73
CountryRepublic 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).