Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.500 CausalMutation CLINVAR

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.150 GeneticVariation CLINVAR

Entrez Id: 84142
Gene Symbol: ABRAXAS1
ABRAXAS1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.100 GeneticVariation CLINVAR

Entrez Id: 140660
Gene Symbol: RPL21P4
RPL21P4
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.100 GeneticVariation CLINVAR

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR "A new case of ""de novo"" BRCA1 mutation in a patient with early-onset breast cancer." 28265380

2017
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR "Methylation not a frequent ""second hit"" in tumors with germline BRCA mutations." 19340607

2009
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR "Methylation not a frequent ""second hit"" in tumors with germline BRCA mutations." 19340607

2009
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR "Mutational spectrum in breast cancer associated 29021639

2017
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR 2157delG: a frequent mutation in BRCA2 missed by PTT. 11106360

2000
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.400 CausalMutation CLINVAR BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer. 28174632

2017
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. 29339979

2018
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile. 29088781

2017
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile. 29088781

2017
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer. 28283652

2017
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR BRCA Reversion Mutations in Circulating Tumor DNA Predict Primary and Acquired Resistance to the PARP Inhibitor Rucaparib in High-Grade Ovarian Carcinoma. 30425037

2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR A 24-color metaphase-based radiation assay discriminates heterozygous BRCA2 mutation carriers from controls by chromosomal radiosensitivity. 22729890

2012
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR A 24-color metaphase-based radiation assay discriminates heterozygous BRCA2 mutation carriers from controls by chromosomal radiosensitivity. 22729890

2012
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR A biochemical analysis demonstrates that the BRCA1 intronic variant IVS10-2A--> C is a mutation. 14513821

2003
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR A BRCA1 mutation in Native North American families. 11933205

2002
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR A BRCA1 nonsense mutation causes exon skipping. 9497265

1998
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR A BRCA1 variant, IVS23+1G-->A, causes abnormal RNA splicing by deleting exon 23. 11428389

2001
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR A BRCA2 founder mutation and seven novel deleterious BRCA mutations in southern Chinese women with breast and ovarian cancer. 19353265

2009
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing. 21184276

2011
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR A breast cancer family from Spain with germline mutations in both the BRCA1 and BRCA2 genes. 12161611

2002
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR A cancer-associated BRCA2 mutation reveals masked nuclear export signals controlling localization. 24013206

2013