Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7157
Gene Symbol: TP53
TP53 		0.500 CausalMutation disease CLINVAR
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.150 GeneticVariation disease CLINVAR
Entrez Id: 84142
Gene Symbol: ABRAXAS1
ABRAXAS1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 140660
Gene Symbol: RPL21P4
RPL21P4 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.800 CausalMutation disease 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 		0.800 CausalMutation disease CLINVAR "Methylation not a frequent ""second hit"" in tumors with germline BRCA mutations." 19340607 2009
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		0.800 CausalMutation disease CLINVAR "Methylation not a frequent ""second hit"" in tumors with germline BRCA mutations." 19340607 2009
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.800 CausalMutation disease CLINVAR "Mutational spectrum in breast cancer associated 29021639 2017
Entrez Id: 142
Gene Symbol: PARP1
PARP1 		0.010 GeneticVariation disease BEFREE <b>Abbreviations:</b> ACC: acinar cell carcinoma; HBOC: Hereditary Breast and Ovarian Cancer; LOH: loss of heterozygosity; PARP: poly (ADP-ribose) polymerase; PDAC: pancreatic ductal adenocarcinoma; PP: pancreatic panniculitis; SD: standard deviation; WES: whole-exome sequencing. 31002019 2019
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		0.010 GeneticVariation disease BEFREE <b>Abbreviations:</b> ACC: acinar cell carcinoma; HBOC: Hereditary Breast and Ovarian Cancer; LOH: loss of heterozygosity; PARP: poly (ADP-ribose) polymerase; PDAC: pancreatic ductal adenocarcinoma; PP: pancreatic panniculitis; SD: standard deviation; WES: whole-exome sequencing. 31002019 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.800 GeneticVariation disease BEFREE <i>BRCA1/2</i> mutations are significant risk factors for hereditary breast and ovarian cancer (HBOC), its mutation frequency in HBOC of Chinese ethnicity is around 9%, in which nearly half are recurrent mutations. 29487695 2018
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.800 Biomarker disease BEFREE <i>BRCA1/2</i> screening in Hereditary Breast and Ovarian Syndrome (HBOC) is an essential step for effective patients' management. 29570666 2018
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.800 Biomarker disease BEFREE 'Indirect' BRCA1/2 testing: a useful approach in hereditary breast and ovarian cancer families without a living affected relative. 16098011 2005
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		0.800 CausalMutation disease CLINVAR 2157delG: a frequent mutation in BRCA2 missed by PTT. 11106360 2000
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.800 GeneticVariation disease BEFREE 50 patients diagnosed with HBOC in the Latvian Cancer Registry from January 2005 to December 2008 were screened for BRCA1 founder mutation-negatives and subjected to targeted resequencing of BRCA1 and BRCA2 genes. 23767878 2013
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		0.800 GeneticVariation disease BEFREE 50 patients diagnosed with HBOC in the Latvian Cancer Registry from January 2005 to December 2008 were screened for BRCA1 founder mutation-negatives and subjected to targeted resequencing of BRCA1 and BRCA2 genes. 23767878 2013
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.800 GeneticVariation disease BEFREE : Hereditary breast and ovarian cancer (HBOC) syndrome is attributed mostly to mutations in the Breast Cancer 1 and Breast Cancer 2 genes (BRCA1/2). 22048556 2011
Entrez Id: 580
Gene Symbol: BARD1
BARD1 		0.400 CausalMutation disease CLINVAR BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer. 28174632 2017
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		0.800 CausalMutation disease 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 		0.800 CausalMutation disease 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 		0.800 CausalMutation disease 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 		0.800 CausalMutation disease CLINVAR BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer. 28283652 2017
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		0.800 CausalMutation disease 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: 672
Gene Symbol: BRCA1
BRCA1 		0.800 GeneticVariation disease BEFREE Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2. 12442265 2002
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		0.800 GeneticVariation disease BEFREE Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2. 12442265 2002