Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE <b>Expert opinion</b>: The transition to multi-gene panels in breast cancer patients has improved the likelihood of capturing a rare variant in a well-established gene associated with hereditary breast cancer (e.g.<i>BRCA1 and BRCA2, TP53</i>). 31469018

2019

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE <b>Expert opinion</b>: The transition to multi-gene panels in breast cancer patients has improved the likelihood of capturing a rare variant in a well-established gene associated with hereditary breast cancer (e.g.<i>BRCA1 and BRCA2, TP53</i>). 31469018

2019

Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.080 Biomarker BEFREE 655Val and 1170Pro ERBB2 SNPs in familial breast cancer risk and BRCA1 alterations. 17452776

2007

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE 655Val and 1170Pro ERBB2 SNPs in familial breast cancer risk and BRCA1 alterations. 17452776

2007

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE Hereditary breast cancer due to mutations in BRCA1 and BRCA2 was a heterogeneous syndrome in the southeastern United States. 10767783

2000

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE Hereditary breast cancer due to mutations in BRCA1 and BRCA2 was a heterogeneous syndrome in the southeastern United States. 10767783

2000

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE Hereditary breast cancer associated with a germline BRCA2 mutation in identical female twins with similar disease expression. 11890985

2002

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE Hereditary breast cancer is characterized by an inherited susceptibility to breast cancer on basis of an identified germline mutation in one allele of a high penetrance susceptibility gene (such as BRCA1, BRCA2, CHEK 2, TP53 or PTEN). 15351094

2004

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE Hereditary breast cancer is characterized by an inherited susceptibility to breast cancer on basis of an identified germline mutation in one allele of a high penetrance susceptibility gene (such as BRCA1, BRCA2, CHEK 2, TP53 or PTEN). 15351094

2004

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.060 GeneticVariation BEFREE Hereditary breast cancer is characterized by an inherited susceptibility to breast cancer on basis of an identified germline mutation in one allele of a high penetrance susceptibility gene (such as BRCA1, BRCA2, CHEK 2, TP53 or PTEN). 15351094

2004

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 Biomarker BEFREE Familial breast cancer: characteristics and outcome of BRCA 1-2 positive and negative cases. 15996267

2005

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE Hereditary breast cancer has been partly attributed to germline mutations in the BRCA1 gene that are deleterious for BRCA1 protein activity. 16026807

2005

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE Familial breast cancer is associated with mutations in several genes (BRCA1, BRCA2, p53, ATM) whose protein products protect against radiation-induced genotoxicity. 16777992

2006

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE Familial breast cancer is associated with mutations in several genes (BRCA1, BRCA2, p53, ATM) whose protein products protect against radiation-induced genotoxicity. 16777992

2006

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE Familial breast cancer is associated with mutations in several genes (BRCA1, BRCA2, p53, ATM) whose protein products protect against radiation-induced genotoxicity. 16777992

2006

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE Familial breast cancer: double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypes. 17636421

2008

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE Familial breast cancer: double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypes. 17636421

2008

Entrez Id: 1543
Gene Symbol: CYP1A1
CYP1A1
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.020 GeneticVariation BEFREE Familial breast cancer risk due to CYP1A1 wt/m1 and m1/m1 genotypes was 2.3 (1.51-3.61)-fold and 7.1 (3.69-13.7)-fold, respectively. 19863350

2010

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE Hereditary breast cancer syndrome was firstly associated with BRCA1 and BRCA2 genes the mutations of which confer high risk to develop breast and/or ovarian cancer. 20730485

2010

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE Hereditary breast cancer syndrome was firstly associated with BRCA1 and BRCA2 genes the mutations of which confer high risk to develop breast and/or ovarian cancer. 20730485

2010

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 Biomarker BEFREE Hereditary breast cancer accounts for about 10% of all breast cancers and BRCA1 and BRCA2 genes have been identified as validated susceptibility genes for this pathology. 22072316

2012

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.700 GeneticVariation BEFREE Hereditary breast cancer: beyond BRCA genetic analysis; PALB2 emerges. 22505525

2011

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE Hereditary breast cancer is predominantly associated with germline mutations in the BRCA1 or BRCA2 genes. 29086229

2018

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 GeneticVariation BEFREE Hereditary breast cancer is predominantly associated with germline mutations in the BRCA1 or BRCA2 genes. 29086229

2018

Entrez Id: 27022
Gene Symbol: FOXD3
FOXD3
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.010 GeneticVariation BEFREE Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing. 30303537

2019