Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach
Open Access
- 7 October 2002
- journal article
- research article
- Published by Springer Nature in British Journal of Cancer
- Vol. 87 (8) , 892-897
- https://doi.org/10.1038/sj.bjc.6600565
Abstract
No abstract availableKeywords
This publication has 28 references indexed in Scilit:
- A modified multiplex PCR assay for detection of large deletions inMSH2 andMLH1Human Mutation, 2002
- MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer.2002
- Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression systemGastroenterology, 2002
- Mutational analysis of promoters of mismatch repair genes hMSH2 and hMLH1 in hereditary nonpolyposis colorectal cancer and early onset colorectal cancer patients: identification of three novel germ-line mutations in promoter of the hMSH2 gene.2002
- Molecular and Clinical Characteristics of MSH6 Variants: An Analysis of 25 Index Carriers of a Germline VariantAmerican Journal of Human Genetics, 2002
- The role of hPMS1 and hPMS2 in predisposing to colorectal cancer.2001
- Bethesda Guidelines: Relation to Microsatellite Instability and MLH1 Promoter Methylation in Patients with Colorectal CancerAnnals of Internal Medicine, 2001
- Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testingGastroenterology, 2001
- Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments.2000
- 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