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KMID : 1007320170230010069
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Journal of the Korean Society of Menopause
2017 Volume.23 No. 1 p.69 ~ p.73
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Case Report of Menopausal Woman Diagnosed with Endometrial Cancer after Colon Cancer with Germline Mutation in MSH6 in Korea
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Lee Hyun-Jung
Lee Min-Hee
Choi Min-Chul
Jung Sang-Geun
Joo Won-Duk
Kim Tae-Heon
Lee Chan
Jang Ja-Hyun
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Abstract
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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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KEYWORD
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Endometrial neoplasms, Germ-line mutation, Hereditary nonpolyposis, Lynch syndrome
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