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

We present a case of an endometrial cancer patient with germline mutation in MutS homolog 6 ( ), 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 bro...

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Published inJournal of menopausal medicine Vol. 23; no. 1; pp. 69 - 73
Main Authors Lee, Hyun Jung, Lee, Min Hee, Choi, Min Chul, Jung, Sang Geun, Joo, Won Duk, Kim, Tae Hoen, Lee, Chan, Jang, Ja-Hyun
Format Journal Article
LanguageEnglish
Published Korea (South) The Korean Society of Menopause 01.04.2017
대한폐경학회
Subjects
Case Report
산부인과학
Germ-line mutation
Endometrial neoplasms
Hereditary nonpolyposis
Lynch syndrome
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Summary:We present a case of an endometrial cancer patient with germline mutation in MutS homolog 6 ( ), 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 ( ) and positive for MutS homolog 2 ( ). Based on these findings, she underwent genetic counseling and testing that revealed a frameshift germline mutation at (c. 3261dupC).
Bibliography:G704-SER000009605.2017.23.1.010
ISSN:2288-6478
2288-6761
DOI:10.6118/jmm.2017.23.1.69