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A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer
- Source :
- Human Genome Variation, Vol 5, Iss 1, Pp 1-3 (2018), Human Genome Variation
- Publication Year :
- 2018
- Publisher :
- Springer Science and Business Media LLC, 2018.
-
Abstract
- Lynch syndrome is a genetic disorder related to cancer predisposition, including colorectal cancer, endometrial cancer, and ovarian cancer. Germline mutations in mismatch repair genes, including MLH1, MSH2, MSH6, and PMS2, are responsible for this condition. Cancer tissue specimens resected from small bowel adenocarcinoma in a Japanese patient showed decreased expression of MLH1 and PMS2 by immunohistochemistry testing. Finally, a novel MLH1 mutation, c.1833dup, was identified in this patient.
- Subjects :
- 0301 basic medicine
Oncology
congenital, hereditary, and neonatal diseases and abnormalities
medicine.medical_specialty
lcsh:QH426-470
Colorectal cancer
lcsh:Life
Biochemistry
03 medical and health sciences
0302 clinical medicine
Germline mutation
Internal medicine
Data Report
Genetics
medicine
neoplasms
Molecular Biology
business.industry
Endometrial cancer
nutritional and metabolic diseases
Cancer
medicine.disease
digestive system diseases
Lynch syndrome
MSH6
lcsh:Genetics
lcsh:QH501-531
030104 developmental biology
MSH2
030220 oncology & carcinogenesis
business
Ovarian cancer
Subjects
Details
- ISSN :
- 2054345X
- Volume :
- 5
- Database :
- OpenAIRE
- Journal :
- Human Genome Variation
- Accession number :
- edsair.doi.dedup.....31f331ff312673d47cea4ddc25bbe1a1