Phenotypic Heterogeneity by Germline Mismatch Repair Gene Defect in Lynch Syndrome Patients

Streamlining the use of IHC in identifying germline mismatch repair mutations in Lynch syndrome

We present the case of a 20 year old man who presented to the emergency department of Craigavon Hospital with a one day history of abdominal pain and dyspnoea. He had been involved in a motorcycle accident three days previously and sustained a soft tissue injury to his left leg. Examination revealed lower abdominal tenderness and left calf swelling. Blood pressure was 140/53mmHg and oxygen satu...

Recognizing Lynch syndrome by DNA mismatch repair deficiency

Mismatch repair genes in Lynch syndrome: a review.

Lynch syndrome represents 1-7% of all cases of colorectal cancer and is an autosomal-dominant inherited cancer predisposition syndrome caused by germline mutations in deoxyribonucleic acid (DNA) mismatch repair genes. Since the discovery of the major human genes with DNA mismatch repair function, mutations in five of them have been correlated with susceptibility to Lynch syndrome: mutS homolog ...

immunohistochemical analysis of mismatch repair proteins in iranian colorectal cancer patients at risk for lynch syndrome

background: hereditary non-polyposis colorectal cancer (hnpcc) is a common hereditary cancer predisposing syndrome has molecular and clinicopathological features still have remained ambiguous within iranian populations. we discuss in this article some molecular and clinicopathological features of the condition. methods: the study was a descriptive retrospective and designed on 1659 colorectal c...

Frequent mismatch-repair defects link prostate cancer to Lynch syndrome.

BACKGROUND A possible role for prostate cancer in Lynch syndrome has been debated based on observations of mismatch-repair defective tumors and reports of an increased risk of prostate cancer in mutation carriers. Potential inclusion of prostate cancer in the Lynch syndrome tumor spectrum is relevant for family classification, risk estimates and surveillance recommendations in mutation carriers...