MLH1
HGNC:7127 · 26 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MLH1 | “Specifically, the collection includes: (i) imprinted loci in human embryonic stem cells (hESCs), including small nuclear ribonucleoprotein polypeptide N (SNRPN), paternally expressed 10 (PEG10), and KCNQ1 opposite strand/antisense transcript 1 (KCNQ1OT1), (ii) heterochromatic regions in hESCs, including urothelial cancer associated 1 (UCA1), and cysteine rich C-terminal 1 (CRCT1)), (iii) the epimutation locus of MutL homolog 1 (MLH1) in RKO cells, and (iv) the DMR of SNRPN locus in early- and late-passage derivatives of a single hESC clone.” | 0.98 | hgnc_dict_v1 |
| gene | MLH1 | “Considering the significant role of genetic mutations such as MLH1 in colorectal carcinogenesis, this study aimed to explore natural compounds with therapeutic potential.” | 0.98 | hgnc_dict_v1 |
| gene | MLH1 | “Beyond imprinted loci, Cas9-induced DSBs significantly disrupt DNA methylation patterns of the MLH1 epimutation alleles in colorectal cancer cells, and hypermethylated heterochromatin loci in hESCs.” | 0.98 | hgnc_dict_v1 |
| gene | MLH1 | “MLH1 or MSH2 variants caused earlier cancer onset than PMS2 or MSH6 variants, and inferior survival (overall survival at age 15 years 63% [95% CI 55-73] for PMS2, 49% [35-68] for MSH6, 19% [6-66] for MLH1, and 0% for MSH2; p<0·0001).” | 0.98 | hgnc_dict_v1 |
| gene | MLH1 | “Further analysis of these variants by the Alpha Missense analysis tool yielded 8 likely pathogenic variants in 9 patients in the following genes: AIP:c.767C>T (p.S256F), CDH23:c.906G>C (p.E302D), CDH23:c.1096G>A (p.A366T), DICER1:c.620C>T (p.A207V), MLH1:c.955G>A (p.E319K), MSH2:c.148G>A (p.A50T), SDHA:c.869T>C (p.L290P) and USP48 (2 patients): c.2233G>A (p.V745M).” | 0.98 | hgnc_dict_v1 |
| gene | MLH1 | “MMR staining showed preserved expression in MLH1 and PMS2 proteins, while MSH2 and MSH6 staining showed loss of protein expression.” | 0.98 | hgnc_dict_v1 |
| gene | MLH1 | “BACKGROUND: Constitutional mismatch repair deficiency (CMMRD) is a rare, autosomal recessive disease caused by a biallelic germline mutation in one of the DNA mismatch repair genes ( MLH1 , MSH2 , MSH6 and PMS2 ).” | 0.98 | hgnc_dict_v1 |
| gene | MLH1 | “Experiments using recombinant proteins reveal that the association of MBD4 with the MMR protein MLH1 is required for this activity.” | 0.98 | hgnc_dict_v1 |
| gene | MLH1 | “Of the 310 subjects, 119 (38.4%) were carriers of pathogenic or likely pathogenic variants (PVs) affecting one or more of the following genes: TP53, ATM, CHEK2, CDH1, CDKN2A, BRCA1, BRCA2, PALB2, BRIP1, RAD51D, APC, MLH1, MSH2, MSH6, PMS2, PTEN, NBN/NBS1 and MUTYH.” | 0.98 | hgnc_dict_v1 |
| gene | MLH1 | “To evaluate the frequency of LS in a cohort of EC patients from Saudi Arabia, a total of 436 EC cases were screened utilizing immunohistochemistry (IHC), MLH1 promoter methylation analysis and next-generation sequencing technology.” | 0.98 | hgnc_dict_v1 |
| gene | MLH1 | “DNA was extracted for targeted gene panel NGS of the MMR genes PMS2, MLH1, MSH6 and MSH2.” | 0.98 | hgnc_dict_v1 |
| gene | MLH1 | “Immunohistochemical staining was applied using antibodies against PD-L1, MLH1, MSH2 and p53.” | 0.98 | hgnc_dict_v1 |
| gene | MLH1 | “A downward trend in the overall gene expression of select DNA repair and one carbon cycle genes (MGMT, MLH1, UNG, MTHFR, MTR) is noted with increased folate status and FA intake.” | 0.98 | hgnc_dict_v1 |
| gene | MLH1 | “As well as, lower expression of MLH1, MSH2, MSH6, PMS2, EPCAM and MUTYH genes were recognized in LS patients and future CRC Saudi patients.” | 0.98 | hgnc_dict_v1 |
| gene | MLH1 | “RESULTS: Here, 41 short-term khat users carried seven somatic mutations in four out of nine cancer-related genes: 29/41(70.73%) ARID1A, 24/41(58.53%) MLH1, 34/41(82.92%) PIK3CA and 36/41(87.80%) TP53.” | 0.98 | hgnc_dict_v1 |
| gene | MLH1 | “Among the genes analyzed, the highest mutation rates were found in PIK3CA (12.9%), BRCA2 (11.7%), BRCA1 (10.2%), TP53 (6.0%), MSH2 (3.8%), PMS2 (3.8%), BARD1 (3.8%), MLH1 (3.4%), CDH1 (3.0%), RAD50 (3.0%), MSH6 (3.0%), NF1 (2.6%), in addition to others.” | 0.98 | hgnc_dict_v1 |
| gene | MLH1 | “Germline mutations in APC and MLH1 have been proven to play an etiological role, resulting in the predisposition of individuals to CRC.” | 0.98 | hgnc_dict_v1 |
| gene | MLH1 | “Mismatch repair deficiency syndromes (Lynch or Constitutional Mismatch Repair Deficiency Syndrom (CMMRD)) were clinically diagnosed and/or germline mutations in DNA mismatch repair genes (MLH1, MSH6, MSH2) were found in all cases, except one case with a family and personal history of colon cancer and another case with MSH6-deficiency available only as recurrent tumor.” | 0.98 | hgnc_dict_v1 |
| gene | MLH1 | “Array comparative genomic hybridization based identification of key genetic alterations at 2p21-p16.3 (MSH2, MSH6, EPCAM), 3p23-p14.2 (MLH1), 7p22.1 (PMS2) and 1p34.1-p33 (MUTYH) regions in hereditary non polyposis colorectal cancer (Lynch syndrome) in the Kingdom of Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| gene | MLH1 | “LSis caused by mutations in the mismatch repair (MMR) genes, mostly in MLH1, MSH2, MSH6 and PMS2.” | 0.98 | hgnc_dict_v1 |
| gene | MLH1 | “Next generation sequencing, Sanger sequencing and Multiplex Ligation-dependent Probe Amplification were used to screen for germline variants in the MLH1, MSH2, MSH6 and PMS2 MMR genes.” | 0.98 | hgnc_dict_v1 |
| gene | MLH1 | “CMMRD results from biallelic mutations in one of the mismatch repair genes including mutL homolog 1 (MLH1), mutS homolog 2 (MSH2), mutS homolog 6 (MSH6), and post-meiotic segregation increased 2 (PMS2).” | 0.98 | hgnc_dict_v1 |
| gene | MLH1 | “METHODS: We included all patients diagnosed with CRC between January 2010 and December 2015, in whom RAS mutational status and the expression of MLH1 and MSH2 proteins were available.” | 0.98 | hgnc_dict_v1 |
| gene | MLH1 | “By targeting the DNA mismatch repair gene MLH1 CGI, we could generate a PSC model of a cancer-related epimutation.” | 0.98 | hgnc_dict_v1 |
| gene | MLH1 | “Earlier studies have reported the incidence of BRAF mutations in the range of 5-20% in colorectal carcinomas (CRC) and are predominantly seen in the serrated adenoma-carcinoma pathway characterized by microsatellite instability (MSI-H) and hypermethylation of the MLH1 gene in the setting of the CpG island methylator phenotype (CIMP).” | 0.98 | hgnc_dict_v1 |
| gene | MLH1 | “The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals.” | 0.98 | hgnc_dict_v1 |