Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.400 Biomarker disease CLINGEN Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer. 12195425 2002
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.400 Biomarker disease CLINGEN Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer. 11805335 2002
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.400 Biomarker disease CLINGEN Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks. 10550055 1999
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		0.400 Biomarker disease CLINGEN DNA damage-induced activation of p53 by the checkpoint kinase Chk2. 10710310 2000
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		0.400 Biomarker disease CLINGEN PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. 27595995 2016
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		0.400 Biomarker disease CLINGEN Concomitant inactivation of p53 and Chk2 in breast cancer. 11857075 2002
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.400 Biomarker disease CLINGEN Abnormal expression of the ATM and TP53 genes in sporadic breast carcinomas. 10999741 2000
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		0.400 Biomarker disease CLINGEN Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. 21876083 2011
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		0.400 Biomarker disease CLINGEN A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. 12094328 2002
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.400 Biomarker disease CLINGEN Enhanced radiation late effects and cellular radiation sensitivity in an ATM heterozygous breast cancer patient. 10492163 1999
Entrez Id: 580
Gene Symbol: BARD1
BARD1 		0.350 Biomarker disease CLINGEN The BRCA1/BARD1 heterodimer modulates ran-dependent mitotic spindle assembly. 17081976 2006
Entrez Id: 580
Gene Symbol: BARD1
BARD1 		0.350 Biomarker disease CLINGEN The basal-like mammary carcinomas induced by Brca1 or Bard1 inactivation implicate the BRCA1/BARD1 heterodimer in tumor suppression. 18443292 2008
Entrez Id: 580
Gene Symbol: BARD1
BARD1 		0.350 Biomarker disease CLINGEN BARD1 induces BRCA1 intranuclear foci formation by increasing RING-dependent BRCA1 nuclear import and inhibiting BRCA1 nuclear export. 11925436 2002
Entrez Id: 580
Gene Symbol: BARD1
BARD1 		0.350 Biomarker disease CLINGEN Inherited Mutations in Women With Ovarian Carcinoma. 26720728 2016
Entrez Id: 580
Gene Symbol: BARD1
BARD1 		0.350 Biomarker disease CLINGEN The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk. 28649662 2017
Entrez Id: 580
Gene Symbol: BARD1
BARD1 		0.350 Biomarker disease CLINGEN Loss of Bard1, the heterodimeric partner of the Brca1 tumor suppressor, results in early embryonic lethality and chromosomal instability. 12832489 2003
Entrez Id: 580
Gene Symbol: BARD1
BARD1 		0.350 Biomarker disease CLINGEN The RING heterodimer BRCA1-BARD1 is a ubiquitin ligase inactivated by a breast cancer-derived mutation. 11278247 2001
Entrez Id: 580
Gene Symbol: BARD1
BARD1 		0.350 Biomarker disease CLINGEN Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks. 26350354 2015
Entrez Id: 580
Gene Symbol: BARD1
BARD1 		0.350 Biomarker disease CLINGEN Identification of BARD1 as mediator between proapoptotic stress and p53-dependent apoptosis. 11779501 2001
Entrez Id: 580
Gene Symbol: BARD1
BARD1 		0.350 Biomarker disease CLINGEN BARD1 homozygous deletion, a possible alternative to BRCA1 mutation in basal breast cancer. 20842729 2010
Entrez Id: 580
Gene Symbol: BARD1
BARD1 		0.350 Biomarker disease CLINGEN Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. 28418444 2017
Entrez Id: 10111
Gene Symbol: RAD50
RAD50 		0.340 Biomarker disease CLINGEN Normal expression of DNA repair proteins, hMre11, Rad50 and Rad51 but protracted formation of Rad50 containing foci in X-irradiated skin fibroblasts from radiosensitive cancer patients. 15150571 2004
Entrez Id: 4683
Gene Symbol: NBN
NBN 		0.340 Biomarker disease CLINGEN Targeted disruption of NBS1 reveals its roles in mouse development and DNA repair. 11889050 2002
Entrez Id: 4683
Gene Symbol: NBN
NBN 		0.340 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015
Entrez Id: 4683
Gene Symbol: NBN
NBN 		0.340 Biomarker disease CLINGEN ATM-dependent phosphorylation of nibrin in response to radiation exposure. 10802669 2000