Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons. 25382762

2015

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Selecting for BRCA1 testing using a combination of homogeneous selection criteria and immunohistochemical characteristics of breast cancers. 19818148

2009

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR The P1812A and P25T BRCA1 and the 5164del4 BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews. 17020472

2006

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. 25985138

2015

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States. 20927582

2011

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. 17924331

2007

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance. 25146914

2014

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer. 18465347

2008

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases. 25782689

2015

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Age at onset of bilateral breast cancer, the presence of hereditary BRCA1, BRCA2, CHEK2 gene mutations and positive family history of cancer. 19372713

2009

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR The First Nationwide Multicenter Prevalence Study of Germline BRCA1 and BRCA2 Mutations in Chinese Ovarian Cancer Patients. 28692638

2017

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas. 27767231

2017

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Molecular genetics analysis of hereditary breast and ovarian cancer patients in India. 19656415

2009

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Clinical follow up of mexican women with early onset of breast cancer and mutations in the BRCA1 and BRCA2 genes. 15889636

2005

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 GeneticVariation CLINVAR Pathogenicity evaluation of BRCA1 and BRCA2 unclassified variants identified in Portuguese breast/ovarian cancer families. 24607278

2014

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age. 20807450

2010

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Caucasian family with two independent mutations: 2594delC in BRCA1 and 5392delAG in BRCA2 gene. 11391658

2001

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR BRCA2 minor transcript lacking exons 4-7 supports viability in mice and may account for survival of humans with a pathogenic biallelic mutation. 26920070

2016

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 GeneticVariation CLINVAR Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort. 27495310

2017

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators. 18375895

2008

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Outcome of unexpected adnexal neoplasia discovered during risk reduction salpingo-oophorectomy in women with germ-line BRCA1 or BRCA2 mutations. 24333842

2014

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR A high frequency of BRCA mutations in young black women with breast cancer residing in Florida. 26287763

2015

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 GeneticVariation CLINVAR Inherited FANCD1/BRCA2 exon 7 splice mutations associated with acute myeloid leukaemia in Fanconi anaemia D1 are not found in sporadic childhood leukaemia. 16115142

2005

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes. 25685387

2015

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR High frequency of germ-line BRCA2 mutations among Hungarian male breast cancer patients without family history. 10070953

1999