ArticleOncogene2007
Mechanisms of inactivation of MLH1 in hereditary nonpolyposis colorectal carcinoma: a novel approach.
Article in Oncogene, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed.
- The landscape of germline variants in breast and colorectal cancer susceptibility genes in patients with pituitary tumours.Journal of neuro-oncology · 2025Article
- Looking beyond the cytogenetics in haematological malignancies: decoding the role of tandem repeats in DNA repair genes.Molecular biology reports · 2022Article
- Frequency and clinical features of deficient mismatch repair in ovarian clear cell and endometrioid carcinoma.Journal of gynecologic oncology · 2022Article
- Induction of mismatch repair deficiency, compromised DNA damage signaling and compound hypermutagenesis by a dietary mutagen in a cell-based model for Lynch syndrome.Carcinogenesis · 2022Article
- Evaluation of yield and experiences of age-related molecular investigation for heritable and nonheritable causes of mismatch repair deficient colorectal cancer to identify Lynch syndrome.International journal of cancer · 2020Article
- A case study of a long-term glioblastoma survivor with unmethylatedCold Spring Harbor molecular case studies · 2019Article
- Mlh1 deficiency in normal mouse colon mucosa associates with chromosomally unstable colon cancer.Carcinogenesis · 2018Article
- The fate of BRCA1-related germline mutations in triple-negative breast tumors.American journal of cancer research · 2017Article
- Finding the needle in a haystack: identification of cases of Lynch syndrome with MLH1 epimutation.Familial cancer · 2016Review
- Update on Lynch syndrome genomics.Familial cancer · 2016Review
- Colorectal cancer carcinogenesis: a review of mechanisms.Cancer biology & medicine · 2016Article
- Molecular approach to genetic and epigenetic pathogenesis of early-onset colorectal cancer.World journal of gastrointestinal oncology · 2016Review
- DNA hypermethylation appears early and shows increased frequency with dysplasia in Lynch syndrome-associated colorectal adenomas and carcinomas.Clinical epigenetics · 2015Article
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- Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.Gastroenterology · 2014Article
- A high degree of LINE-1 hypomethylation is a unique feature of early-onset colorectal cancer.PloS one · 2012Article
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- Detection of allelic imbalance in MLH1 expression by pyrosequencing serves as a tool for the identification of germline defects in Lynch syndrome.Familial cancer · 2010Article
- High risk for neoplastic transformation of endometriosis in a carrier of Lynch syndrome.Familial cancer · 2010Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
Mutations in the DNA mismatch repair gene MLH1 are a major cause of hereditary nonpolyposis colorectal cancer (HNPCC). No mutant phenotype is observed before the wild-type (wt) allele is somatically inactivated in target tissue. We addressed the mechanisms of MLH1 inactivation in 25 colorectal (CRC) and 32 endometrial cancers (ECs) from MLH1 mutation carriers (Mut1, in-frame genomic deletion; Mut2, out-of-frame splice site mutation; Mut3, missense mutation). By a quantitative method, matrix-assisted laser desorption/ionization-time-of-flight (MALDI-TOF), utilizing four intragenic single nucleotide polymorphisms and mutations, loss of heterozygosity (LOH) was present in 31/57 (54.4%) of tumors. The wt allele displayed LOH more often than the mutant allele (23/57 vs 8/57, P=0.006). For Mut1, LOH was more frequent in CRC than EC (10/11 vs 1/13, P<0.0001), whereas Mut2 and Mut3 displayed opposite LOH pattern. Moreover, although wt LOH predominated in CRC irrespective of the predisposing mutation, LOH often affected the mutant allele in EC from Mut2 and Mut3 carriers (6/19, 31.6%). MLH1 promoter methylation, which reflected a more widespread hypermethylation tendency, occurred in 4/55 (7.3%) of tumors and was inversely associated with LOH. In conclusion, the patterns of somatic events (LOH and promoter methylation) differ depending on the tissue and germline mutation, which may in part explain the differential tumor susceptibility of different organs in HNPCC. MALDI-TOF provides a novel approach for the detection and quantification of LOH.
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