Case Report of Menopausal Woman Diagnosed with Endometrial Cancer after Colon Cancer with Germline Mutation in MSH6 in Korea
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ÀÌÇöÁ¤(Lee Hyun-Jung) - CHA University CHA Bundang Medical Center Department of Obstetrics and Gynecology
À̹ÎÈñ(Lee Min-Hee) - CHA University CHA Bundang Medical Center Department of Obstetrics and Gynecology
ÃÖ¹Îö(Choi Min-Chul) - CHA University CHA Bundang Medical Center Department of Obstetrics and Gynecology
Á¤»ó±Ù(Jung Sang-Geun) - CHA University CHA Bundang Medical Center Department of Obstetrics and Gynecology
ÁÖ¿ø´ö(Joo Won-Duk) - CHA University CHA Bundang Medical Center Department of Obstetrics and Gynecology
±èÅÂÇö(Kim Tae-Heon) - CHA University CHA Bundang Medical Center Department of Pathology
ÀÌÂù(Lee Chan) - CHA University CHA Bundang Medical Center Department of Obstetrics and Gynecology
ÀåÀÚÇö(Jang Ja-Hyun) - Green Cross Genome
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).
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Endometrial neoplasms, Germ-line mutation, Hereditary nonpolyposis, Lynch syndrome
KMID :
1007320170230010069
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À¯È¿¼º°á°ú(Recomendation)
Approximately 3% to 5% of endometrial cancer is associated with Lynch syndrome; When affected by Lynch syndrome, the lifetime risk of endometrial canceris 16% to 60%.