Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features
Open Access
- 17 May 2006
- journal article
- research article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 14 (7) , 853-859
- https://doi.org/10.1038/sj.ejhg.5201628
Abstract
No abstract availableKeywords
This publication has 24 references indexed in Scilit:
- Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletionEuropean Journal of Human Genetics, 2005
- HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1Genes, Chromosomes and Cancer, 2004
- Genomic deletions inMSH2 orMLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: Identification of novel and recurrent deletions by MLPAHuman Mutation, 2003
- Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancersOncogene, 2002
- Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutationHuman Mutation, 2002
- Functional analysis ofMLH1mutations linked to hereditary nonpolyposis colon cancerGenes, Chromosomes and Cancer, 2001
- Steady-state Regulation of the Human DNA Mismatch Repair SystemJournal of Biological Chemistry, 2000
- Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2European Journal of Human Genetics, 1999
- Hereditary Nonpolyposis Colorectal Cancer Families Not Complying with the Amsterdam Criteria Show Extremely Low Frequency of Mismatch-Repair-Gene MutationsAmerican Journal of Human Genetics, 1997
- Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysisGastroenterology, 1996