ArticleFamilial cancer2010
Selection of patients with germline MLH1 mutated Lynch syndrome by determination of MLH1 methylation and BRAF mutation.
Article in Familial cancer, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 50 citations in OpenAlex.
- The Relationship Between DNA Mismatch Repair Status and Clinicopathologic Characteristics in Colon Cancer.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2024Article
- Molecular Analysis of Colorectal Cancers Suggests a High Frequency of Lynch Syndrome in Indonesia.Cancers · 2021Article
- Diagnosis of Lynch Syndrome and Strategies to Distinguish Lynch-Related Tumors from Sporadic MSI/dMMR Tumors.Cancers · 2021Review
- Microsatellite instability: a review of what the oncologist should know.Cancer cell international · 2020Review
- MLH1 promoter hypermethylation: are you absolutely sure about the absence of MLH1 germline mutation? About a new case.Familial cancer · 2020Article
- Assessing colorectal cancer mismatch repair status in the modern era: a survey of current practices and re-evaluation of the role of microsatellite instability testing.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2018Article
- Contribution of MLH1 constitutional methylation for Lynch syndrome diagnosis in patients with tumor MLH1 downregulation.Cancer medicine · 2018Article
- Mismatch repair defects and Lynch syndrome: The role of the basic scientist in the battle against cancer.DNA repair · 2016Review
- Detection of DNA repair protein in colorectal cancer of patients up to 50 years old can increase the identification of Lynch syndrome?Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2016Article
- Deficient mismatch repair: Read all about it (Review).International journal of oncology · 2015Review
- Advances in the study of Lynch syndrome in China.World journal of gastroenterology · 2015Review
- Tumour MLH1 promoter region methylation testing is an effective prescreen for Lynch Syndrome (HNPCC).Journal of medical genetics · 2014Article
- Cost-effectiveness and diagnostic effectiveness analyses of multiple algorithms for the diagnosis of Lynch syndrome.Digestive diseases and sciences · 2014Article
- Current Lynch syndrome tumor screening practices: a survey of genetic counselors.Journal of genetic counseling · 2014Article
- Article
- The CpG island methylator phenotype (CIMP) in colorectal cancer.Gastroenterology and hepatology from bed to bench · 2013Review
- A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia.Croatian medical journal · 2012Article
- MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study.European journal of human genetics : EJHG · 2012Article
- Epigenetics and colorectal cancer.Nature reviews. Gastroenterology & hepatology · 2011Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lynch syndrome is one of the most common hereditary colorectal cancer (CRC) syndrome and is caused by germline mutations of MLH1, MSH2 and more rarely MSH6, PMS2, MLH3 genes. Whereas the absence of MSH2 protein is predictive of Lynch syndrome, it is not the case for the absence of MLH1 protein. The purpose of this study was to develop a sensitive and cost effective algorithm to select Lynch syndrome cases among patients with MLH1 immunohistochemical silencing. Eleven sporadic CRC and 16 Lynch syndrome cases with MLH1 protein abnormalities were selected. The BRAF c.1799T> A mutation (p.Val600Glu) was analyzed by direct sequencing after PCR amplification of exon 15. Methylation of MLH1 promoter was determined by Methylation-Sensitive Single-Strand Conformation Analysis. In patients with Lynch syndrome, there was no BRAF mutation and only one case showed MLH1 methylation (6%). In sporadic CRC, all cases were MLH1 methylated (100%) and 8 out of 11 cases carried the above BRAF mutation (73%) whereas only 3 cases were BRAF wild type (27%). We propose the following algorithm: (1) no further molecular analysis should be performed for CRC exhibiting MLH1 methylation and BRAF mutation, and these cases should be considered as sporadic CRC; (2) CRC with unmethylated MLH1 and negative for BRAF mutation should be considered as Lynch syndrome; and (3) only a small fraction of CRC with MLH1 promoter methylation but negative for BRAF mutation should be true Lynch syndrome patients. These potentially Lynch syndrome patients should be offered genetic counselling before searching for MLH1 gene mutations.
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