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Target Concepts:
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Query: UMLS:C0476089 (
endometrial cancer
)
11,379
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Germline mutation of DNA mismatch repair (MMR) genes is a cause of Lynch syndrome. Methylation of MutL homolog 1 (
MLH1
) and
MutS homolog
2 (
MSH2
) has been detected in peripheral blood cells of patients with colorectal cancer. This methylation is referred to as epimutation. Methylation of these genes has not been studied in an unselected series of
endometrial cancer
cases. Therefore, we examined methylation of
MLH1
,
MSH2
, and
MSH6
promoter regions of peripheral blood cells in 206 patients with
endometrial cancer
using a methylation-specific polymerase chain reaction (MSP). Germline mutation of MMR genes, microsatellite instability (MSI), and immunohistochemistry (IHC) were also analyzed in each case with epimutation.
MLH1
epimutation was detected in a single patient out of a total of 206 (0.49%)-1 out of 58 (1.72%) with an onset age of less than 50 years. The patient with
MLH1
epimutation showed high level MSI (MSI-H), loss of
MLH1
expression and had developed
endometrial cancer
at 46 years old, complicated with colorectal cancer. No case had epimutation of
MSH2
or
MSH6
. The
MLH1
epimutation detected in a patient with
endometrial cancer
may be a cause of endometrial carcinogenesis. This result indicates that it is important to check epimutation in patients with
endometrial cancer
without a germline mutation of MMR genes.
...
PMID:Methylation Analysis of DNA Mismatch Repair Genes Using DNA Derived from the Peripheral Blood of Patients with Endometrial Cancer: Epimutation in Endometrial Carcinogenesis. 2775 26
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).
...
PMID:Case Report of Menopausal Woman Diagnosed with Endometrial Cancer after Colon Cancer with Germline Mutation in
MSH6
in Korea. 2852 62
