|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Enrichment of pathogenic variants were identified in 4 non-BRCA genes associated with breast cancer risk: ATM (odds ratio [OR], 2.97; 95% CI, 1.67-5.68), CHEK2 (OR, 2.19; 95% CI, 1.40-3.56), PALB2 (OR, 5.53; 95% CI, 2.24-17.65), and MSH6 (OR, 2.59; 95% CI, 1.35-5.44).
|
30128536 |
2019 |
|
Malignant neoplasm of breast
|
0.500 |
Biomarker
|
disease |
BEFREE |
Immunohistochemistries (IHCs) with anti-MMR proteins (MLH1, PMS2, MSH2 and MSH6) and multiplex IHCs with anti-PD-L1, anti-CD8 or anti-CD163 were performed on tissue microarrays (TMAs) with 101 triple-negative BCs (TNBC) and 197 HER2-positive BCs.
|
30633926 |
2019 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We assessed the rates of the recurring Ashkenazi Jewish (AJ) mutations in the MSH6 gene (c.3984_3987dupGTCA and c.3959_3962delCAAG) in AJ cases with seemingly sporadic BC or HBOC phenotype, who were negative for the founder AJ BRCA1/2 mutations.
|
30498870 |
2019 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Whole exome sequencing of breast cancer (TNBC) cases from India: association of MSH6 and BRIP1 variants with TNBC risk and oxidative DNA damage.
|
30136158 |
2018 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our data demonstrate that two LS genes, MSH6 and PMS2, are associated with an increased risk for breast cancer and should be considered when ordering genetic testing for individuals who have a personal and/or family history of breast cancer.
|
29345684 |
2018 |
|
Malignant neoplasm of breast
|
0.500 |
Biomarker
|
disease |
BEFREE |
The breast cancer targeting peptide p160 (12-mer) and its enzymatically stable analogue 18-4 (10-mer) showed marked potential for breast cancer drug delivery using cell studies and animal models.
|
28157321 |
2017 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Using targeted capture and massively parallel genomic sequencing, 151 subjects with USC were assessed for germline mutations in 30 tumor suppressor genes, including BRCA1 (breast cancer 1, early onset), BRCA2, the DNA mismatch repair genes (MLH1 [mutL homolog 1], MSH2 [mutS homolog 2], MSH6, PMS2 [postmeiotic segregation increased 2]), TP53 (tumor protein p53), and 10 other genes in the Fanconi anemia-BRCA pathway.
|
22811390 |
2013 |
|
Malignant neoplasm of breast
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Promoter hypermethylation of PAX6, BRCA2, PAX5, WT1, CDH13 and MSH6 seems to be a frequent early event in breast cancer and methylation levels of GSTP1 (and CDKN2A, although still low) seem to increase with increasing DCIS grade.
|
21710692 |
2011 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
AIB1 (amplified in breast cancer I) is a member of the p160 steroid receptor coactivator family.
|
22035181 |
2011 |
|
Malignant neoplasm of breast
|
0.500 |
Biomarker
|
disease |
BEFREE |
Distinctive functions of p160 steroid receptor coactivators in proliferation of an estrogen-independent, tamoxifen-resistant breast cancer cell line.
|
21059860 |
2011 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
However, screening of the entire MSH6 coding sequence in 68 non-HBCC breast cancer families showed a similar association (8.8 vs. approximately 1.4% in controls, P < or = 0.001), suggesting that rare MSH6 variants are not confined to HBCC breast cancer.
|
19924528 |
2010 |
|
Malignant neoplasm of breast
|
0.500 |
Biomarker
|
disease |
BEFREE |
Unique roles of p160 coactivators for regulation of breast cancer cell proliferation and estrogen receptor-alpha transcriptional activity.
|
19095746 |
2009 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) and AA (Pro/Pro) genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95) (p = 0.03) and OR = 0.62 (0.41-0.94) (p = 0.03), respectively.Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR = 0.43 (0.21-0.83), p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [OR = 2.35 (1.23-4.49), p = 0.01], GG/AA [OR = 2.11 (1.12-3,98), p = 0.02], and GG/AG [adjusted OR = 1.88 (1.12-3.15), p = 0.02] all associated with an increased risk for breast cancer.
|
19781088 |
2009 |
|
Malignant neoplasm of breast
|
0.500 |
Biomarker
|
disease |
BEFREE |
AIB1 (amplified in breast cancer 1), also called SRC-3 and NCoA-3, is a member of the p160 nuclear receptor co-activator family and is considered an important oncogene in breast cancer.
|
19418218 |
2009 |
|
Malignant neoplasm of breast
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The p160 nuclear receptor coactivator, AIB1 (amplified in breast cancer 1), is frequently overexpressed in human breast cancer and has been shown to be associated with tamoxifen resistance.
|
18827493 |
2008 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M.
|
18701435 |
2008 |
|
Malignant neoplasm of breast
|
0.500 |
Biomarker
|
disease |
BEFREE |
The p160 family coactivators regulate breast cancer cell proliferation and invasion through autocrine/paracrine activity of SDF-1alpha/CXCL12.
|
15917309 |
2005 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The several occurrences of breast cancer are not due to the MSH6 mutations.
|
16283884 |
2005 |
|
Malignant neoplasm of breast
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our results suggest that MSH6 may not be the underlying gene in breast cancer families with a history of colorectal and/or endometrial cancer.
|
15805151 |
2005 |
|
Malignant neoplasm of breast
|
0.500 |
Biomarker
|
disease |
BEFREE |
Overexpression or amplification of ACTR (also named AIB1, RAC3, p/CIP, TRAM-1, and SRC-3), a member of the p160 family of coactivators for nuclear hormone receptors, has been frequently detected in multiple types of human tumors, including breast cancer.
|
15169882 |
2004 |
|
Malignant neoplasm of breast
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The p160 nuclear receptor coactivator, AIB1 (amplified in breast cancer 1), is frequently amplified and overexpressed in human breast cancer and has been shown to enhance estrogen-dependent transactivation.
|
12964942 |
2003 |
|
Malignant neoplasm of breast
|
0.500 |
Biomarker
|
disease |
BEFREE |
Using a genetic approach, we show that recruitment of the p160 class of coactivators is sufficient for gene activation and for the growth stimulatory actions of estrogen in breast cancer supporting a model in which ER cofactors play unique roles in estrogen signaling.
|
11136970 |
2000 |
|
Malignant neoplasm of breast
|
0.500 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
|
Malignant neoplasm of breast
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|