Lynch syndrome, an autosomal dominant inherited disorder, is caused by inactivating
mutations involving DNA mismatch repair (MMR) genes. This leads to profound genetic …

Up to one million people within the United States may have Lynch syndrome (LS), but only
10% have been diagnosed. Early identification of these individuals is critical because they …

Background: Tumour mismatch repair (MMR) deficiency, determined by
immunohistochemical (IHC) loss of MMR protein expression, is used diagnostically to …

Background Reported prevalence, penetrance and expression of deleterious mutations in
the mismatch repair (MMR) genes, MLH1, MSH2, MSH6 and PMS2, may reflect differences …

METHODS: Among a consecutive series of MMR-deficient Lynch syndrome spectrum
cancers identified through immunohistochemistry-based tumor screening, we investigated …

Colorectal Cancer (CRC) is the third most prevalent cancer in men and women. Up to 15%
of CRCs display microsatellite instability (MSI). MSI is reflective of a deficient mismatch …

Background Previous studies demonstrated that prognosis of germline deficiency in
mismatch repair protein (dMMR) was different from that of sporadic dMMR. The underlying …

PURPOSE Lynch syndrome (LS)–associated colorectal cancer (CRC) is characterized by
mismatch repair-deficiency (MMR-D) and/or microsatellite instability (MSI). However, with …

Background & Aims Microsatellite instability (MSI) in colorectal cancer cells results from
deficient mismatch repair (MMR) protein function, either acquired or from germline …

BACKGROUND: Inherited mutations in deoxyribonucleic acid (DNA) mismatch repair (MMR)
genes lead to an increased risk of colorectal cancer (CRC), gynaecological cancers and …