Lynch syndrome is the most common inherited colorectal cancer susceptibility syndrome and accounts for approximately 3 % of all colorectal cancers. Clinical assessment and a detailed family history are crucial in identifying patients who need further evaluation via genetic counseling and testing. Discovery of the underlying causative germline mutations in DNA mismatch repair genes has allowed m...

We are delighted to have the opportunity to respond to the letter by Gilks et al. (Gilks et al., 2017). They argue first that historical pathological entities do not map seamlessly to modern day diagnostic categories, which are not only based on expert review by specialist gynecological pathologists but are also increasingly supported by immunohistochemistry (IHC). Second, that the misclassific...

Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant syndrome characterized by predisposition to early-onset cancers. HNPCC is caused by heterozygous loss-of-function mutations within the mismatch repair genes MLH1, MSH2, MSH6, PMS1, and PMS2. We genotyped the MLH1 and MSH2 genes in patients suffering from Lynch syndrome and in 11 unrelated patients who were diagnosed wit...

Abstract Introduction Colorectal cancers (CRC) are the second most common cause of death by cancer, in UK. Microsatellite instability (MSI) analysis is novel yet important part managing CRC and used as a tool for predicting prognosis, treatment identifying lynch syndrome. Where syndrome identified, preventative screening can be utilised. Previous studies only focused tumour testing on high-risk...