J Menopausal Med.  2017 Apr;23(1):69-73. 10.6118/jmm.2017.23.1.69.

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

• Lee HJ
• Lee MH
• Choi MC
• Jung SG
• Joo WD
• Kim TH
• Lee C
• Jang JH

• KMID: 2378227
• DOI: http://doi.org/10.6118/jmm.2017.23.1.69

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).

Keyword

Endometrial neoplasms; Germ-line mutation; Hereditary nonpolyposis; Lynch syndrome

MeSH Terms

Colon*
Colonic Neoplasms*
Colorectal Neoplasms, Hereditary Nonpolyposis
Endometrial Neoplasms*
Female
Genetic Counseling
Germ-Line Mutation*
Humans
Immunohistochemistry
Korea*
Middle Aged
Siblings

Figure

• 

  Fig. 1 (A) Pedigree of the patient. (B) Gene sequencing result of human MSH6. EM: endometrial, Ca: cancer.

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