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 (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...

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Detalles Bibliográficos
Autores principales: Lee, Hyun Jung, Lee, Min Hee, Choi, Min Chul, Jung, Sang Geun, Joo, Won Duk, Kim, Tae Hoen, Lee, Chan, Jang, Ja-Hyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Menopause 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5432470/
https://www.ncbi.nlm.nih.gov/pubmed/28523262
http://dx.doi.org/10.6118/jmm.2017.23.1.69
Descripción
Sumario: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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