MCM9 Is Required for Mammalian DNA Mismatch Repair.
Montpellier, France. In Mol Cell, 19 Sep 2015
Here, we show that mammalian MCM9, a protein involved in replication and homologous recombination, forms a complex with MMR initiation proteins (MSH2, MSH3, MLH1, PMS1, and the clamp loader RFC) and is essential for MMR.
Advances in the study of Lynch syndrome in China.
Beijing, China. In World J Gastroenterol, 14 Jul 2015
In addition to frequently altered MMR genes, such as MLH1, MSH2, MSH6, and MLH3, other MMR-associated genes, such as those encoding human exonuclease 1, transforming growth factor β receptor 2, and alanine aminopeptidase, metastasis-associated protein 2, adenomatosis polyposis coli down-regulated 1, and hepatic and glial cell adhesion molecule have also been implicated in Chinese Lynch syndrome.
Next-generation sequencing for genetic testing of familial colorectal cancer syndromes.
Verona, Italy. In Hered Cancer Clin Pract, Dec 2014
METHODS: A series of 16 probands for either familial adenomatous polyposis (FAP; 8 cases) or hereditary nonpolyposis colorectal cancer (HNPCC; 8 cases) were investigated for intragenic mutations in five CRC familial syndromes-associated genes (APC, MUTYH, MLH1, MSH2, MSH6) applying both a custom multigene Ion AmpliSeq NGS panel and conventional Sanger sequencing.
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.
Rockville, United States. In Unknown Journal, 0001
We evaluated the following tests: microsatellite instability assessment by polymerase chain reaction (PCR) for colorectal cancer (CRC), MLH1 promoter methylation for CRC, KRAS mutation testing for CRC, BRAF mutation testing for CRC, Oncotype DX Colon mRNA expression for CRC, Oncotype DX Breast mRNA expression for breast cancer, MammaPrint mRNA expression for breast cancer, ALK cytogenetics for lung cancer, EGFR mutation testing for lung cancer, KRAS mutation testing for lung cancer, and UroVysion cytogenetics for urinary bladder cancer.