Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778555849
rs778555849
Entrez Id: 10111;101927761
Gene Symbol: RAD50;TH2LCRR
RAD50;TH2LCRR
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels. 28961279 2017
dbSNP: rs786201897
rs786201897
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TA 0.700 CausalMutation CLINVAR Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene. 27913932 2017
dbSNP: rs1247689593
rs1247689593
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. 26822949 2016
dbSNP: rs149201802
rs149201802
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Multigene testing of moderate-risk genes: be mindful of the missense. 26787654 2016
dbSNP: rs1554098706
rs1554098706
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		CT 0.700 CausalMutation CLINVAR Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer. 26824983 2016
dbSNP: rs397507178
rs397507178
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TA 0.700 CausalMutation CLINVAR Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer. 26824983 2016
dbSNP: rs587782895
rs587782895
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer. 26824983 2016
dbSNP: rs1060501933
rs1060501933
Entrez Id: 10111;101927761
Gene Symbol: RAD50;TH2LCRR
RAD50;TH2LCRR
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Human RAD50 makes a functional DNA-binding complex. 25828805 2015
dbSNP: rs149201802
rs149201802
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. 25452441 2015
dbSNP: rs1554098706
rs1554098706
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		CT 0.700 CausalMutation CLINVAR Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. 25452441 2015
dbSNP: rs377260382
rs377260382
Entrez Id: 3567;10111
Gene Symbol: IL5;RAD50
IL5;RAD50
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic. 26023681 2015
dbSNP: rs377260382
rs377260382
Entrez Id: 3567;10111
Gene Symbol: IL5;RAD50
IL5;RAD50
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Detection of novel germline mutations for breast cancer in non-BRCA1/2 families. 26094658 2015
dbSNP: rs397507178
rs397507178
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TA 0.700 CausalMutation CLINVAR Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. 25452441 2015
dbSNP: rs587780155
rs587780155
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic. 26023681 2015
dbSNP: rs760146707
rs760146707
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. 25452441 2015
dbSNP: rs766315644
rs766315644
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. 25452441 2015
dbSNP: rs786203485
rs786203485
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Detection of inherited mutations for hereditary cancer using target enrichment and next generation sequencing. 25151137 2015
dbSNP: rs876658212
rs876658212
Entrez Id: 3567;10111
Gene Symbol: IL5;RAD50
IL5;RAD50
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic. 26023681 2015
dbSNP: rs876658212
rs876658212
Entrez Id: 3567;10111
Gene Symbol: IL5;RAD50
IL5;RAD50
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Detection of novel germline mutations for breast cancer in non-BRCA1/2 families. 26094658 2015
dbSNP: rs876658770
rs876658770
Entrez Id: 10111;101927761
Gene Symbol: RAD50;TH2LCRR
RAD50;TH2LCRR
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Human RAD50 makes a functional DNA-binding complex. 25828805 2015
dbSNP: rs1060501933
rs1060501933
Entrez Id: 10111;101927761
Gene Symbol: RAD50;TH2LCRR
RAD50;TH2LCRR
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study. 24894818 2014
dbSNP: rs1236278956
rs1236278956
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study. 24894818 2014
dbSNP: rs149201802
rs149201802
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. 24240112 2014
dbSNP: rs1554098706
rs1554098706
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		CT 0.700 CausalMutation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289 2014
dbSNP: rs587781355
rs587781355
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289 2014