Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 Biomarker disease HPO
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 Biomarker disease BEFREE The MSI detection rate at the specific HNPCC markers varied from 0% to 10% in breast cancer, with D175250 and TP53 being the HNPCC markers most suitable for analysis of breast cancer. 10845276 2000
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE We have identified hMLH1 mutations in 2 Amsterdam-criteria HNPCC families where both male and female gene carriers were affected with breast cancer. 10709098 2000
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE While a colon cancer from the same individual showed MSI, the BC specimen was MSI-negative, indicating that development of the latter tumor was unrelated to MMR impairment, despite presence of a constitutional MLH1 mutation.Hum Mutat 17:521, 2001. 11385712 2001
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 Biomarker disease BEFREE Our study investigates the relationship between loss of MSH2 or MLH1 function and sensitivity to the topoisomerase I and II poisons, and to the taxanes, 2 classes of cytotoxic drugs commonly used in breast cancer. 11477562 2001
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE The high frequency of microsatellite instability in lobular breast cancers, coupled with increased risk of breast cancer associated with germline mismatch repair gene mutations raises the possibility that mutations MSH2 or MLH1 might confer susceptibility to LCIS. 11369138 2001
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 Biomarker disease BEFREE A high proportion of patients with previous breast cancer (4 of 6 patients) had hMLH1-defective colorectal carcinomas. 14576472 2003
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 Biomarker disease BEFREE Significant differences in allele frequencies between cases and controls were observed for ID3 (inhibitor of DNA binding), p = 0.05, HPN (hepsin), p = 0.009, BCAS1 (breast carcinoma amplified sequence 1), p = 0.007, CAV2 (caveolin 2), p = 0.007, EMP3 (epithelial membrane protein 3), p < 0.0001, and MLH1 (mutL homolog 1), p < 0.0001. 15583422 2004
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 AlteredExpression disease BEFREE Our study shows that a lack of hMLH1 expression may play a role in drug resistance, especially in the CMF group, and immunohistochemical assay for MMR protein can be used as a convenient tool for evaluating chemotherapeutic response in patients with breast cancer. 14717755 2004
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
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 AlteredExpression disease BEFREE To address these issues, 83 archival breast cancer specimens were examined for expression of hMSH2 and hMLH1 by immunohistochemistry and the relationship between MMR protein expression and patient clinical background was analyzed. 15890247 2005
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 Biomarker disease BEFREE Our findings suggest that genetic polymorphisms of RAD52, ERCC1, and hMLH1 may be associated with breast cancer risk in Korean women. 15958648 2005
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 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 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 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 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 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 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