Ask about this productRelated genes to: MLH1 antibody
- Gene:
- MLH1 NIH gene
- Name:
- mutL homolog 1
- Previous symbol:
- COCA2
- Synonyms:
- HNPCC, FCC2, HNPCC2
- Chromosome:
- 3p22.2
- Locus Type:
- gene with protein product
- Date approved:
- 1993-11-24
- Date modifiied:
- 2019-04-23
Related products to: MLH1 antibody
Related articles to: MLH1 antibody
- BRCA1/2 founder mutation have been detected in various populations and ethnicities. Molecular diagnosis of HBOC remains challenging for populations where founder mutations have not yet been identified. There are limited data on hereditary BC mutations in ethnic groups of Siberia. The purpose of this study was to find new hereditary breast cancer (BC) variants in the understudied Buryat ethnic group by using WES data and DNA construct for their subsequent validation.
Methods: Our study included a 52-year-old Buryat BC patient with a family history of BC (sister with BC). To identify novel as well as previously described variants, obtained by WES, we used the OpenCRAVAT mutation impact scoring algorithm (comprehensive knowledge base). For variants requiring further study, the DNA construct method was used.
Result: According to WES data, no pathogenic variants were found in a 52-year-old Buryat BC patient with a family history of BC. The patient was found to have rare variants of unknown significance (MLH1 c.C550T:p.R184C and FANCI c.A1111G:p.S371G) and c.986C>T DOCK8 gene variant (as secondary findings). In silico analysis indicated that only c.986C>T variant of DOCK8 gene may affect splicing (a key immunity gene could act as a tumor suppressor). Electrophoresis of PCR fragments obtained using cDNA as a template showed that in the presence of the c.986C>T variant, the length of the PCR product was 60 bp less than in the case of the reference sequence of this region.
Conclusion: We suggest that the combined carriage of the c.A1111G mutation of the FANCI gene and c.986C>T DOCK8 gene identified in this patient may likely increase the risk of developing BC. Our functional data indicate a potential impact c.986C>T variant of the DOCK8 gene on splicing. The role of the c.986C>T variant in BC pathogenesis and its prevalence in Buryats ethnic group remain to be elucidated. - Source: PubMed
Publication date: 2026/05/01
Gervas PolinaSalakhov RamilMolokov AlekseyKarpova YuliyaBabyshkina NatalyaBuldakov MichailTsyganov MatveiMolonova LilyaZarubin AlexeyWang LianhuiChoynzonov EugeneCherdyntseva Nadezda - Oral squamous cell carcinoma (OSCC) is the most common type of cancer found in the oral cavity, exhibiting a persistent increase in incidence in developing nations. The mismatch repair (MMR) system preserves genomic stability during successive duplications. Mutator L Homolog 1 (MLH1) is a crucial component of the MMR and significantly contributes to mutation prevention. This study sought to evaluate the genetic variation of (rs63749820) in patients with OSCC. - Source: PubMed
Publication date: 2026/05/18
Zare RaziehMokhtari Mohammad JavadRahimi HassanFattahi Mohammad JavadKhademi Bijan - To characterize tumor-site distribution, age at diagnosis, sex distribution, and tumor multiplicity in a Brazilian institutional Lynch syndrome (LS) cohort stratified by mismatch repair (MMR) gene and genetic testing status, and to assess the impact of including nontested (NT) relatives. - Source: PubMed
Publication date: 2026/05/20
Bassaneze ThiagoOliveira Ferreira FábioSandoval Renata LazariPisani Janina PontesVanessa Quirino CarlaRodrigues de Nicola Pablo DomingosAchatz Maria IsabelDominguez-Valentin MevRossi Benedito Mauro - Comparison of immunohistochemical detection of mismatch repair (MMR) proteins within tumours, as deficient MMR is important for (1) the detection of Lynch Syndrome, caused by inherited variants affecting the DNA MMR genes and , (2) aiding MMR gene variant interpretation and (3) deciding on use of immune checkpoint blockade therapy. - Source: PubMed
Publication date: 2026/05/19
Farmkiss Luke ArDodson AndrewParry SuzanneJames Michelle CharmaineFrayling Ian MArends Mark Johan - Constitutional epimutations of the gene are an alternative cause of Lynch syndrome, in which inactivation of an allele of a mismatch repair (MMR) gene results from promoter methylation, rather than a pathogenic genetic variant. These epimutations are often mosaic, and methylation levels ranging from ~50% monoallelic methylation to low-level methylation (1%-5%) are observed in the blood of epimutation carriers. Using a specific and highly sensitive droplet digital methyl-specific PCR (ddMSP) assay, six patients with very low methylation levels (< 1%) were identified in a series of 142 patients with a -methylated tumor diagnosed before age 61, who had been referred to the clinical lab between 2020 and 2024. These patients were initially missed by standard pyrosequencing assay, emphasizing the need for highly sensitive assays for constitutional epimutation screening. To confirm that methylated DNA molecules detected by ddMSP did not correspond to circulating tumor DNA rather than germline DNA, multiple validation analyses were performed, including validation of the constitutional origin of methylation on other sources of germline DNA and tumoral analysis. Taking into account the other patients identified as epimutation carriers by pyrosequencing during the same 5-year period, 13.1% of patients with a -methylated tumor before age 61 were diagnosed as Lynch syndrome patients, which changed their clinical follow-up. These findings highlight the relevance of recommendations for systematic epimutation screening using highly sensitive assays in patients with -methylated tumors diagnosed before age 61. Such screening will increase the number of patients diagnosed with Lynch syndrome caused by a constitutional epimutation, improving patient care and outcomes, as well as genetic counseling. - Source: PubMed
Publication date: 2026/05/14
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