FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.060 Biomarker disease BEFREE FMRP affects metastasis formation in a mouse model for breast cancer. 29144507 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.060 GeneticVariation disease BEFREE Previous studies have demonstrated that BRCA1/2 positive women are more likely to have an FMR1 genotype with one low CGG allele, and that women with both FMR1 alleles in the low CGG repeat range are more likely to have had breast cancer compared to women with normal numbers of CGG repeats. 28667565 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.060 AlteredExpression disease BEFREE Lack of FMR1 causes the most common neurological disorder, fragile X syndrome, while its overexpression is associated with metastasis of breast cancer. 25268320 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.060 AlteredExpression disease BEFREE We show here that FMRP and FMR1 mRNA levels correlate with prognostic indicators of aggressive breast cancer, lung metastases probability and triple negative breast cancer (TNBC). 24092663 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.060 Biomarker disease BEFREE Finally, in human breast carcinomas, MLN51 is sometimes present in cytoplasmic foci also positive for FMRP and PABP, suggesting that SGs formation occurs in malignant tumours. 17652158 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.060 PosttranslationalModification disease BEFREE As proof-of-principle applications, we established duplex assays to examine the FMR1 promoter in individuals with fragile-X syndrome and the SNRPN promoter in individuals with Prader-Willi syndrome or Angelman syndrome, and a multiplex assay to simultaneously detect hypermethylation of seven genes (ID4, APC, RASSF1A, CDH1, ESR1, HIN1 and TWIST1) in breast cancer cell lines and tissues. 17998253 2007