MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 AlteredExpression disease BEFREE Down regulation of MLH1 gene expression/loss of the MLH1 protein (OR 12; CI 2.8-53.1) was observed in BC cases, illustrating its potential role in disease development. 31701475 2020
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 Biomarker disease BEFREE Statistical analysis demonstrated that MLH1 and MSH2 deficiency may lead breast cancer progression to advanced stage, correlated with tumor focality (MLH1 P = 0.001; MSH2 P = 0.002) and chemotherapy (MLH1 P = 0.01; MSH2 P = 0.04). 30149959 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 Biomarker disease BEFREE A combinatorial therapy with hesperetin targeting ABL1, DNMT3B, and MLH1 may be effective in circumventing chemoresistance in breast cancer. 31659695 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 AlteredExpression disease BEFREE First, the alterations (deletion/methylation/expression) of MLH1 and MSH2 were analyzed in 45 neoadjuvant chemotherapy (NACT)-treated and 133 pretherapeutic BC samples. 30481381 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 Biomarker disease BEFREE When evaluating by gene, the age-standardized breast cancer risks for MSH6 (SIR = 2.11; 95% confidence interval (CI), 1.56-2.86) and PMS2 (SIR = 2.92; 95% CI, 2.17-3.92) were associated with a statistically significant risk for breast cancer whereas no association was observed for MLH1 (SIR = 0.87; 95% CI, 0.42-1.83) or MSH2 (SIR = 1.22; 95% CI, 0.72-2.06). 29345684 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 Biomarker disease BEFREE Therefore, we performed a meta-analysis to explore the role of RARβ2, DAPK, hMLH1, p14, and p15 promoter hypermethylation in the susceptibility and clinical progression of breast cancer. 30572486 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 Biomarker disease BEFREE Conversely, variants in the BRIP1 and RAD51C ovarian cancer risk genes; the MRE11A, RAD50, and NBN MRN complex genes; the MLH1 and PMS2 mismatch repair genes; and NF1 were not associated with increased risks of breast cancer. 28418444 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE In addition to the BRCA1 promoter region, this work identified regions with variable methylation at multiple breast cancer susceptibility genes including PALB2 and MLH1. 27902704 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE After allocation of mutation status, the cumulative risk of breast cancer to 70 years in MLH1 carriers was 18.6% (95% CI 11.3 to 25.9)). 26101330 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE Loss of the wild-type hMLH1 allele was detected in both breast tumors, thus suggesting that the MMR defect contributed to the development of the breast cancer. 23695190 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE We observed two two-way SNP-SNP interactions (APEX1-rs1130409 and RPAP1-rs2297381; MLH1-rs1799977 and MDM2-rs769412) in logistic regression that conferred elevated risks for breast cancer (P(interaction)<7.3 × 10(-3)). 23755158 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE Our data show that women with minor alleles in both MSH2 and MLH1 could be at increased breast cancer risk. 23852586 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE WBC DNA methylation was analysed by bisulphite pyrosequencing at ataxia telangiectasia mutated (ATM), estrogen receptor 1 (ESR1), progesterone receptor (PGR), mutL homologue 1 (MLH1), breast cancer susceptibility gene (BRCA1), secreted frizzled-related protein 1 (SFRP1), stratifin (SFN), retinoic acid receptor beta (RARB) loci and the repetitive element LINE1 in 880 SCOTROC1 trial patients [paclitaxel (Taxol)-carboplatin versus docetaxel (Taxotere)-carboplatin as primary chemotherapy for stage Ic-IV epithelial ovarian cancer]. 24114859 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in POU5F1P1, rs989902 in PTPN13, rs1801278 in IRS1, rs7003146 in TCF7L2, rs1503185 in PTPRJ, and rs63750447 in MLH1) were genotyped in Han Chinese subjects, including 216 patients with breast cancer and 216 matched controls, using the Sequenom MassARRAY platform. 24338422 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE In a large-enrollment, sophomore-level laboratory course, groups of three to four students were assigned a gene associated with either breast cancer (brc-1), Wilson disease (cua-1), ovarian dysgenesis (fshr-1), or colon cancer (mlh-1). 22665589 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 Biomarker disease BEFREE Decrease in the expression levels of TOP2A, MSH2 and MLH1 may play significant roles in the development of chemotherapeutic resistance to etoposide in breast cancer. 22285073 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE Carriers of both germline mutations in breast cancer genes BRCA1 or BRCA2 and in mismatch repair (MMR) genes MLH1, MSH2, MSH6 or PMS2 are very rare. 23164213 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE An intronic mutation in MLH1 associated with familial colon and breast cancer. 20717847 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE Epigenetic silencing of essential components of DNA repair pathways is a common event in many tumor types, and comprise O6-methylguanine-DNA methyltransferase (MGMT), human mut L homolog 1 (hMLH1), Werner syndrome gene (WRN), breast cancer susceptibility gene 1 (BRCA1), and genes of the Fanconi anemia pathway. 19671858 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 Biomarker disease BEFREE Thus, the present study suggests hMLH1 and RBSP3/HYA22 to be candidate TSG associated with development of both early and late-onset BC undergoing frequent genetic and epigenetic alteration and having significant prognostic implications. 19016758 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE We observed hypermethylation of the hmlh1 gene in 43.5% of patients with primary breast cancer, of whom 66.9% had locally advanced breast cancer (stage IIIA, IIIB, and IIIC) (P < .0001). 18329696 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE Carrier frequency of the MLH1 -93 variant was higher in patients who developed therapy related acute myeloid leukaemia (t-AML) (75.0%, n = 12) or breast cancer (53.3%. n = 15) after methylating chemotherapy for Hodgkin lymphoma compared to patients without previous methylating exposure (t-AML, 30.4%, n = 69; breast cancer patients, 27.2%, n = 22). 17959715 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE In Caucasians, breast cancer risk was significantly associated with ADPRT 762VV [odds ratio (OR) = 1.45; 95% confidence interval (CI) = 1.03, 2.03], APE1 148DD (OR = 1.44; 95% CI = 1.03, 2.00), MLH1 219II/IV (OR = 1.87; 95% CI = 1.11, 3.16) and ERCC4 415QQ (OR = 8.64; 95% CI = 1.04, 72.02) genotypes. 18701435 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 AlteredExpression disease BEFREE We correlated the immunoreactivity of the MMR proteins hMSH2, hMLH1 and PMS2 to the immunoreaction of p53, the proliferation marker Ki67 and clinical prognosis factors such as tumor grading and staging, steroid receptor expression and hemangiosis carcinomatosa or lymphangiosis carcinomatosa in 200 samples from patients with diagnosed breast cancer. 17390069 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE Breast cancer occurred in a family with hereditary nonpolyposis colon carcinoma (HNPCC; Lynch syndrome) carrying an MLH1 mutation (IVS17-3G>C). 15993273 2005