DisGeNET - a database of gene-disease associations

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1, C2676676

Variant: rs80357446 ×

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:

rs80357446

BRCA1

0.700

CausalMutation

CLINVAR

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

31131967

2019

dbSNP:

rs80357446

BRCA1

0.700

CausalMutation

CLINVAR

Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.

27083775

2016

dbSNP:

rs80357446

BRCA1

0.700

CausalMutation

CLINVAR

Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making.

27272900

2016

dbSNP:

rs80357446

BRCA1

0.700

CausalMutation

CLINVAR

Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study.

27062684

2016

dbSNP:

rs80357446

BRCA1

0.700

CausalMutation

CLINVAR

BRCA1 and BRCA2 mutations in ethnic Lebanese Arab women with high hereditary risk breast cancer.

25777348

2015

dbSNP:

rs80357446

BRCA1

0.700

CausalMutation

CLINVAR

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.

25823446

2015

dbSNP:

rs80357446

BRCA1

0.700

CausalMutation

CLINVAR

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.

25823446

2015

dbSNP:

rs80357446

BRCA1

0.700

CausalMutation

CLINVAR

Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.

24489791

2014

dbSNP:

rs80357446

BRCA1

0.700

CausalMutation

CLINVAR

Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.

24489791

2014

dbSNP:

rs80357446

BRCA1

0.700

CausalMutation

CLINVAR

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

25085752

2014

dbSNP:

rs80357446

BRCA1

0.700

CausalMutation

CLINVAR

Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing.

23161852

2013

dbSNP:

rs80357446

BRCA1

0.700

CausalMutation

CLINVAR

Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations.

23633455

2013

dbSNP:

rs80357446

BRCA1

0.700

CausalMutation

CLINVAR

Functional differences among BRCA1 missense mutations in the control of centrosome duplication.

21725363

2012

dbSNP:

rs80357446

BRCA1

0.700

CausalMutation

CLINVAR

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

21990134

2012

dbSNP:

rs80357446

BRCA1

0.700

CausalMutation

CLINVAR

Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon.

22713736

2012

dbSNP:

rs80357446

BRCA1

0.700

CausalMutation

CLINVAR

Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast.

21922593

2011

dbSNP:

rs80357446

BRCA1

0.700

CausalMutation

CLINVAR

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

21702907

2011

dbSNP:

rs80357446

BRCA1

0.700

CausalMutation

CLINVAR

Characterization of BRCA1 ring finger variants of uncertain significance.

19543972

2010

dbSNP:

rs80357446

BRCA1

0.700

CausalMutation

CLINVAR

Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination.

20103620

2010

dbSNP:

rs80357446

BRCA1

0.700

CausalMutation

CLINVAR

Genetic services have value beyond BRCA1/2 testing.

19208665

2009

dbSNP:

rs80357446

BRCA1

0.700

CausalMutation

CLINVAR

BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer.

19241424

2009

dbSNP:

rs80357446

BRCA1

0.700

CausalMutation

CLINVAR

Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups.

18159056

2007

dbSNP:

rs80357446

BRCA1

0.700

CausalMutation

CLINVAR

Prevalence and predictors of BRCA1 and BRCA2 mutations in a population-based study of breast cancer in white and black American women ages 35 to 64 years.

16912212

2006

dbSNP:

rs80357446

BRCA1

0.700

CausalMutation

CLINVAR

Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility.

16403807

2006

dbSNP: