Abstract
Women with hereditary non-polyposis colorectal cancer (HNPCC)/Lynch syndrome have a high risk for endometrial cancer (EC) and frequently present with a gynaecological cancer as their first or sentinel malignancy. Identification...
Highlights
Women with hereditary non-polyposis colorectal cancer (HNPCC)/Lynch syndrome have a high risk for endometrial cancer (EC) and frequently present with a gynaecological cancer as their first or sentinel malignancy
Hereditary non-polyposis colorectal cancer (HNPCC), is an autosomal dominant syndrome that predisposes its carriers to multiple malignancies including colorectal cancer (CRC), endometrial cancer (EC), ovarian cancer (OC), and cancer of the renal pelvis and ureter, stomach, pancreas, small bowel and brain.[1]
This review will detail the contributions of DNA mismatch repair protein expression (DNA-MMR), microsatellite instability assays (MSI), methylation assays to detect hypermethylation of the MLH1 promoter, and mutational analysis of the DNAMMR genes as they relate to identifying which EC patients are at highest risk of having HNPCC
Summary
Women with hereditary non-polyposis colorectal cancer (HNPCC)/Lynch syndrome have a high risk for endometrial cancer (EC) and frequently present with a gynaecological cancer as their first or sentinel malignancy. This review will detail the contributions of DNA mismatch repair protein expression (DNA-MMR), microsatellite instability assays (MSI), methylation assays to detect hypermethylation of the MLH1 promoter, and mutational analysis of the DNAMMR genes as they relate to identifying which EC patients are at highest risk of having HNPCC.
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