MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Breast Carcinoma ×
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 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 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 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 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 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 Biomarker disease HPO