J Menopausal Med.  2017 Apr;23(1):69-73. 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

Affiliations
  • 1Comprehensive Gynecologic Cancer Center, Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University, Seongnam, Korea. oursk79@cha.ac.kr
  • 2Department of Pathology, CHA Bundang Medical Center, CHA University, Seongnam, Korea.
  • 3Green Cross Genome, Yongin, Korea.

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).

Keyword

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