DisGeNET - a database of gene-disease associations

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Variant: rs80359071 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs80359071

BRCA2

0.700

GeneticVariation

CLINVAR

Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.

26824983

2016

dbSNP:

rs80359071

BRCA2

0.700

GeneticVariation

CLINVAR

Cycling with BRCA2 from DNA repair to mitosis.

25447315

2014

dbSNP:

rs80359071

BRCA2

0.700

CausalMutation

CLINVAR

An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance.

25146914

2014

dbSNP:

rs80359071

BRCA2

0.700

GeneticVariation

CLINVAR

An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance.

25146914

2014

dbSNP:

rs80359071

BRCA2

0.700

GeneticVariation

CLINVAR

Functional assays for analysis of variants of uncertain significance in BRCA2.

24323938

2014

dbSNP:

rs80359071

BRCA2

0.700

GeneticVariation

CLINVAR

Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.

25085752

2014

dbSNP:

rs80359071

BRCA2

0.700

CausalMutation

CLINVAR

Functional assays for analysis of variants of uncertain significance in BRCA2.

24323938

2014

dbSNP:

rs80359071

BRCA2

0.700

GeneticVariation

CLINVAR

Effect of the expression of BRCA2 on spontaneous homologous recombination and DNA damage-induced nuclear foci in Saccharomyces cerevisiae.

23328489

2013

dbSNP:

rs80359071

BRCA2

0.700

CausalMutation

CLINVAR

A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.

23108138

2013

dbSNP:

rs80359071

BRCA2

0.700

GeneticVariation

CLINVAR

A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.

23108138

2013

dbSNP:

rs80359071

BRCA2

0.700

CausalMutation

CLINVAR

Effect of the expression of BRCA2 on spontaneous homologous recombination and DNA damage-induced nuclear foci in Saccharomyces cerevisiae.

23328489

2013

dbSNP:

rs80359071

BRCA2

0.700

GeneticVariation

CLINVAR

BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group.

22711857

2012

dbSNP:

rs80359071

BRCA2

0.700

CausalMutation

CLINVAR

BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group.

22711857

2012

dbSNP:

rs80359071

BRCA2

0.700

GeneticVariation

CLINVAR

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

21990134

2012

dbSNP:

rs80359071

BRCA2

0.700

GeneticVariation

CLINVAR

Effect of the overexpression of BRCA2 unclassified missense variants on spontaneous homologous recombination in human cells.

21671020

2011

dbSNP:

rs80359071

BRCA2

0.700

CausalMutation

CLINVAR

Effect of the overexpression of BRCA2 unclassified missense variants on spontaneous homologous recombination in human cells.

21671020

2011

dbSNP:

rs80359071

BRCA2

0.700

GeneticVariation

CLINVAR

Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning.

20167696

2010

dbSNP:

rs80359071

BRCA2

0.700

CausalMutation

CLINVAR

Functional assays for classification of BRCA2 variants of uncertain significance.

18451181

2008

dbSNP:

rs80359071

BRCA2

0.700

GeneticVariation

CLINVAR

Assessment of functional effects of unclassified genetic variants.

18951449

2008

dbSNP:

rs80359071

BRCA2

0.700

GeneticVariation

CLINVAR

Functional assays for classification of BRCA2 variants of uncertain significance.

18451181

2008

dbSNP:

rs80359071

BRCA2

0.700

GeneticVariation

CLINVAR

Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.

19043619

2008

dbSNP:

rs80359071

BRCA2

0.700

GeneticVariation

CLINVAR

Rapid and sensitive detection of BRCA1/2 mutations in a diagnostic setting: comparison of two high-resolution melting platforms.

18403564

2008

dbSNP:

rs80359071

BRCA2

0.700

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

dbSNP:

rs80359071

BRCA2

0.700

GeneticVariation

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

dbSNP:

rs80359071

BRCA2

0.700

GeneticVariation

CLINVAR

BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.

15026808

2004