Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.900 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.900 GeneticVariation CLINVAR

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 GeneticVariation CLINVAR

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 GeneticVariation CLINVAR

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 GeneticVariation CLINVAR

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 GeneticVariation CLINVAR

Entrez Id: 5892
Gene Symbol: RAD51D
RAD51D
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.500 GeneticVariation CLINVAR

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.500 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.500 GeneticVariation CLINVAR

Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.490 GeneticVariation CLINVAR A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function. 18628483

2008
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.490 GeneticVariation CLINVAR Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control. 21127055

2011
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.490 GeneticVariation CLINVAR Inherited Mutations in Women With Ovarian Carcinoma. 26720728

2016
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.490 GeneticVariation CLINVAR Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort. 27443514

2016
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.490 GeneticVariation CLINVAR Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes. 20639400

2010
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.490 GeneticVariation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104

2016
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.490 GeneticVariation CLINVAR No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. 26921362

2016
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.490 GeneticVariation CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395

2016
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.490 GeneticVariation CLINVAR BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control. 20159562

2010
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.490 GeneticVariation CLINVAR The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 16116424

2005
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.490 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.490 GeneticVariation CLINVAR A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer. 19127258

2009
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.490 GeneticVariation CLINVAR BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ. 16153896

2005
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.490 GeneticVariation CLINVAR Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311

2011
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.490 GeneticVariation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.490 GeneticVariation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289

2014