Jackson, United States. In Arch Pathol Lab Med, Dec 2014
Because a subset of patients with phenotypic MTS will have germline mutations in the DNA mismatch repair genes hMSH2 and hMLH1, MTS is considered a phenotypic subtype of Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer syndrome), in which inherited defects in DNA mismatch repair genes result in microsatellite instability.
Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.
San Francisco, United States. In J Clin Oncol, Aug 2014
Sixteen pathogenic variants were identified in ATM, BLM, CDH1, CDKN2A, MUTYH, MLH1, NBN, PRSS1, and SLX4 among 141 women without BRCA1/2 mutations.
Quantitative methodology is critical for assessing DNA methylation and impacts on correlation with patient outcome.
Melbourne, Australia. In Clin Epigenetics, 2013
In contrast to much of the literature, either no or infrequent locus-specific methylation was identified by MS-HRM for DAPK1, RASSF1A, MGMT, MLH1, APC, CDH1, CDH13, BRCA1, ERCC1, and ATM.
Practical genetics of colorectal cancer.
Omaha, United States. In Chin Clin Oncol, 2013
Lynch syndrome is attributable to DNA mismatch repair germline mutations, with the MSH2, MLH1, MSH6, and PMS2 genes being implicated.