Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE However, the associations between RAD50 germline mutations and the survival and risk of breast cancer have not been fully elucidated. 29726012 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE In contrast, a novel RAD50 truncating mutation is most likely unrelated to breast cancer. 29271107 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE We found that the increased risk of breast cancer is associated with MRE11 variant rs684507 (odds ratio-OR 3.71, 95% confidence interval-CI 1.68-8.18, p value < 0.0001), whereas, RAD50 variant rs28903089 appeared to have protective effect (OR 0.55, CI 0.29-1.02, p value = 0.003). 29368209 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 Biomarker disease BEFREE Over the past 20 years, high-penetrance pathogenic mutations in genes BRCA1, BRCA2, TP53, PTEN, STK11 and CDH1 and moderate-penetrance mutations in genes CHEK2, ATM, BRIP1, PALB2, RAD51C, RAD50 and NBN have been identified for breast cancer. 28419251 2017
CUI: C0678222
Disease: Breast Carcinoma
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
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE A rare nonsynonymous variant in RAD50 was detected in a male BC patient. 27782108 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 AlteredExpression disease BEFREE We find that RAD50 and INPP4B expression levels have a synergistic influence on breast cancer survival, possibly through their effects on treatment response. 25528023 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 AlteredExpression disease BEFREE Immunohistochemistry assays on tissue microarrays indicate that the strong staining intensity of RAD50 was reduced in 14% of breast carcinomas in comparison with normal tissues. 24642965 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 Biomarker disease BEFREE These data establish that MRE11A, RAD50, and NBN are intermediate-risk breast cancer susceptibility genes. 24894818 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE We conducted a mutational analysis of RAD50 and NBS1 in genomic DNA from 384 Chinese women with early-onset breast cancer and/or affected relatives. 21811815 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE Although candidate gene approaches demonstrated moderately increased breast cancer risks for rare mutations in genes involved in DNA repair (ATM, CHEK2, BRIP1, PALB2 and RAD50), genome-wide association studies identified several SNPs as low-penetrance breast cancer susceptibility polymorphisms within genes as well as in chromosomal loci with no known genes (FGFR2, TOX3, LSP1, MAP3K1, TGFB1, 2q35 and 8q). 19092773 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE These data together suggest that although founder mutations may make Rad50 a significant breast cancer risk factor in certain populations, it is not a factor in others. 19190165 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE In conclusion, this screen of DNA repair genes implicates PRKDC and POLQ as candidate tumor suppressor genes involved in breast cancer and suggests that inactivating mutations in RAD50 predispose to pancreatic cancer as well as breast cancer. 18281469 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 Biomarker disease BEFREE Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene. 19383352 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 GeneticVariation disease BEFREE Breast cancer risk is associated with the genes encoding the DNA double-strand break repair Mre11/Rad50/Nbs1 complex. 17932350 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 Biomarker disease BEFREE RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. 16474176 2006
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 AlteredExpression disease BEFREE The expression profiles of five such proteins: ATM, p53, NBS1, MRE11 and Rad50 were analysed in 99 in-situ and invasive ductal breast carcinomas of different grades using an immunohistochemical approach, and compared with those seen in eight independent non-cancer (normal) breast samples and in the surrounding normal tissues of the breast carcinomas examined. 14511253 2003
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.200 Biomarker disease HPO