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 |
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 |
Breast Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
An intronic mutation in MLH1 associated with familial colon and breast cancer.
|
20717847 |
2011 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Breast Carcinoma
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
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 |
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 |
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 |
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 |
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 |