COMT, catechol-O-methyltransferase, 1312

N. diseases: 622; N. variants: 47
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 AlteredExpression disease BEFREE These results support the hypothesis that the formation and accumulation of catechol estrogens in breast tissue through increased CYP1B1 expression and reduced COMT expression may play a significant role in breast cancer risk. 17507616 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE A thrombophilic disposition was found in 9.9% of women, and 23% of women had at least two SNPs associated with an increased risk of breast cancer (COMT, CYP17, CYP19, CYP1A1, and CYP1B1). 15237001 2004
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 Biomarker disease BEFREE In the case of COMT, there was no significant difference in susceptibility for breast cancer development between patients with low activity COMT-L (V158 M) allele and high activity COMT-H allele, and susceptibility was not affected by menopausal status, BMI or CYP1B1 genotype. 12415427 2002
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE Our study, therefore, suggests that the COMT genotype may define a portion of the individual breast cancer susceptibility that is associated with reproductive events and hormone exposure even if it does not seem to be a major overall risk factor for this malignancy. 11401913 2001
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE However, a study with the larger sample size is needed to further evaluated gene-environment interaction on COMT Val158Met polymorphisms and breast cancer risk. 22297695 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE The COMT genotype was significantly associated with clinical stage and the extent of regional lymph node metastasis of breast cancer (P<0.05). 10755383 2000
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 Biomarker disease BEFREE Proteomics Identification and Validation of Desmocollin-1 and Catechol-O-Methyltransferase as Proteins Associated with Breast Cancer Cell Migration and Metastasis. 31617665 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE In a case-only study on 282 women with breast cancer, we studied the interaction effects (ORi) between smoking habits and the gene polymorphisms of Cytochrome P450 1B1 (Val432Leu CYP1B1), Phenol-sulfotransferase 1A1 (Arg213His SULT1A1) and Catechol-O-methyltransferase (Val158Met COMT). 14520706 2003
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE No association between COMT 1947 G>A (rs4680) or CYP1A1 4889 A>G (rs1048943) and breast cancer was found. 20878621 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE Results from this study suggest that rs4680 in the COMT gene and rs4646903 in the CYP1A1 gene may be genetic markers for breast cancer prognosis in Chinese women. 17429315 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE The frequency of COMT-L allele was more significantly represented in the breast cancer cases (48.08%) than in the controls (38.20%). 15388245 2004
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 Biomarker disease BEFREE Both experimental and epidemiological studies suggest the role of COMT in pathogenesis of human breast cancer (BCa). 30684530 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE In a case-control study, we evaluated the association of the low-activity allele (COMT(Met)) with breast cancer risk. 9605753 1998
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE We found no statistically significant interactions between any of the PCB groups and CYP1B1 or COMT polymorphisms on the risk of breast cancer. 23869875 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE This study based on limited sample sizes suggests that there may be no overall association of COMT genotype with breast cancer, but the COMT-L allele could pose enhanced risk of breast cancer in the presence of relevant environmental exposures, as most low penetrance gene are expected to act through gene-environment interactions. 16191465 2005
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE The proportion of susceptible genotype (COMT-LL) in breast cancer patients was significantly higher than that in the controls. 20591221 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE Although the study found that parental carrier status of certain CYP1B1 or COMT genotypes might be associated with daughter's breast cancer risk, the biological basis as well as independent confirmation of this finding need to be investigated in future larger family-based studies before making meaningful inferences. 15111770 2004
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE Larger studies with the ability to look at interactions would be useful to elucidate the influence of genetic variation in CYP1A2 and COMT on the risk of developing breast cancer. 17295924 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE There was no overall association between COMT genotype and breast cancer risk. 12727796 2003
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE However, the combination of a priori hypothesized low-risk genotypes in MPO and COMT genes was associated with a marginally significant decrease in breast cancer risk (OR, 0.28; 95% CI, 0.08-1.00). 18340529 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE In a cross-sectional study of 181 pre- and 171 postmenopausal women without breast cancer, we examined the relationship of a functional polymorphism in catechol-O-methyltransferase (COMT; VAL-->MET) to mammographic density and other risk factors for breast cancer. 14504192 2003
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE We examined associations between polymorphisms in genes related to estrogen metabolism (CYP1B1 codon 432G --> C rs#1056836, CYP1B1 codon 453A --> G rs#1800440, COMT codon 158G --> A rs#4680) and biosynthesis (CYP17 T --> C promoter rs#743572, CYP19 exon 4 TTTA repeat) and urinary estrogen metabolites (2-hydroxyestrogens (2-OHE), 16alpha-hydroxyestrone (16alpha-OHE1), and their ratio) in a pilot study of 64 pre- and post-menopausal women with a family history of breast cancer. 16850246 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE In contrast, risk of breast cancer did not differ between tea drinkers and nontea drinkers among those who were homozygous for the high activity COMT allele (adjusted odds ratio, 1.02; 95% confidence interval, 0.66-1.60). 14612555 2003
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE When all 41 studies were pooled into the meta-analysis, there was no evidence for significant association between COMT Val108/158Met polymorphism and breast cancer risk (for Val/Met vs. Val/Val: OR = 0.99, 95% CI = 0.93-1.04; for Met/Met vs. Val/Val: OR = 0.96, 95% CI = 0.88-1.04; for dominant model: OR = 0.97, 95% CI = 0.92-1.03; for recessive model: OR = 0.97, 95% CI = 0.90-1.04). 20464630 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE Two common SNPs in the distal promoter for membrane-bound (MB) COMT, rs2020917 and rs737865, were associated with breast cancer risk reduction in premenopausal women in the Mayo Clinic study, with allele-specific odds ratios (OR) of 0.70 [95% confidence interval (CI), 0.52-0.95] and 0.68 (95% CI, 0.51-0.92), respectively. 18632656 2008