Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene
variants lodged on the InSiGHT locus-specific database.
Walsh et al., "Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene
mutation testing," Journal of Clinical Oncology, vol.
Hofstra, "Review: clinical aspects of hereditary DNA Mismatch repair gene
mutations," DNA Repair, vol.
Bandipalliam, "Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene
mutations," Familial Cancer, vol.
Mismatch repair gene
defects in sporadic colorectal cancers with microsatellite instability.
Carrara et al., "Mutations of the 'minor' mismatch repair gene
MSH6 in typical and atypical hereditary nonpolyposis colorectal cancer," Familial Cancer, vol.
Morrison et al., "Mutation in the DNA mismatch repair gene
homologue hMLH1 is associated with hereditary non-polyposis colon cancer," Nature, vol.
Surveillance colonoscopy improves survival in a cohort of subjects with a single mismatch repair gene
Prediction of a mismatch repair gene
defect by microsatellite instability and immunohistochemical analysis in endometrial tumours from HNPCC patients.
The loss of mismatch repair gene
proteins in colorectal carcinoma is one such example.
DNA mismatch repair gene
mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer.