ArticleOncogene2001
A novel germline 1.8-kb deletion of hMLH1 mimicking alternative splicing: a founder mutation in the Chinese population.
Article in Oncogene, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 38 citations in OpenAlex.
- Copy number variants associated with 18p11.32, DCC and the promoter 1B region of APC in colorectal polyposis patients.Meta gene · 2016Article
- Colorectal cancer in Chinese patients: current and emerging treatment options.OncoTargets and therapy · 2014Review
- Expanding the genetic basis of copy number variation in familial breast cancer.Hereditary cancer in clinical practice · 2014Article
- Expression sensitivity analysis of human disease related genes.BioMed research international · 2013Article
- Alterations of copy number of methylation pattern in mismatch repair genes by methylation specific-multiplex ligation-dependent probe amplification in cases of colon cancer.Balkan journal of medical genetics : BJMG · 2011Article
- Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers.BMC cancer · 2009Article
- Copy number variations and cancer.Genome medicine · 2009Article
- Hereditary Colorectal Cancer Syndromes in Hong Kong: a Registry's Perspective.Hereditary cancer in clinical practice · 2005Article
- Highly penetrant hereditary cancer syndromes.Oncogene · 2004Review
- MSH2 c.1452-1455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population.American journal of human genetics · 2004Article
- The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.American journal of human genetics · 2002Article
- Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancers.Oncogene · 2002Article
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have previously reported that there is a high incidence of microsatellite instability (MSI) and germline mismatch repair gene mutation in colorectal cancer arising from young Hong Kong Chinese. Most of the germline mutations involve hMSH2, which is different from the mutation spectrum in the Western population. It is well known that alternative splicing is common in hMLH1, which complicates RNA based mutation detection methods. In contrast, large deletions in hMLH1, commonly observed in some ethnic groups, tend to escape detection by exon-by-exon direct DNA sequencing. Here we report the detection of a novel germline 1.8 kb deletion involving exon 11 of hMLH1 in a local hereditary non-polyposis colorectal cancer family. This mutation generates a mRNA transcript with deletion of exons 10-11, which is indistinguishable from one of the most common and predominant hMLH1 splice variants. A diagnostic test based on PCR of the breakpoint region led to the identification of an additional young colorectal cancer patient with this mutation. Haplotype analysis suggests that they may share a common ancestral mutation. Our results caution investigators in the interpretation of alternative splicing and have important implications for the design of hMLH1 mutation detection strategy in the Chinese population.
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