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Case Report of Menopausal Woman Diagnosed with Endometrial Cancer after Colon Cancer with Germline Mutation in MSH6 in Korea
Journal of Menopausal Medicine ; : 69-73, 2017.
Article in English | WPRIM | ID: wpr-222375
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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Full text: Available Index: WPRIM (Western Pacific) Main subject: Immunohistochemistry / Colorectal Neoplasms, Hereditary Nonpolyposis / Endometrial Neoplasms / Colon / Colonic Neoplasms / Germ-Line Mutation / Siblings / Genetic Counseling / Korea Type of study: Diagnostic study Limits: Female / Humans Country/Region as subject: Asia Language: English Journal: Journal of Menopausal Medicine Year: 2017 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Immunohistochemistry / Colorectal Neoplasms, Hereditary Nonpolyposis / Endometrial Neoplasms / Colon / Colonic Neoplasms / Germ-Line Mutation / Siblings / Genetic Counseling / Korea Type of study: Diagnostic study Limits: Female / Humans Country/Region as subject: Asia Language: English Journal: Journal of Menopausal Medicine Year: 2017 Type: Article