DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs80357069 ×

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:

rs80357069

BRCA1

0.700

CausalMutation

CLINVAR

Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.

26787237

2016

dbSNP:

rs80357069

BRCA1

0.700

CausalMutation

CLINVAR

Addressing health disparities in Hispanic breast cancer: accurate and inexpensive sequencing of BRCA1 and BRCA2.

26543556

2015

dbSNP:

rs80357069

BRCA1

0.700

CausalMutation

CLINVAR

Patterns and functional implications of rare germline variants across 12 cancer types.

26689913

2015

dbSNP:

rs80357069

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:

rs80357069

BRCA1

0.700

CausalMutation

CLINVAR

A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.

21447777

2011

dbSNP:

rs80357069

BRCA1

0.700

CausalMutation

CLINVAR

A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.

21447777

2011

dbSNP:

rs80357069

BRCA1

0.700

CausalMutation

CLINVAR

Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

20516115

2010

dbSNP:

rs80357069

BRCA1

0.700

CausalMutation

CLINVAR

Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

20516115

2010

dbSNP:

rs80357069

BRCA1

0.700

CausalMutation

CLINVAR

Functional impact of missense variants in BRCA1 predicted by supervised learning.

17305420

2007

dbSNP:

rs80357069

BRCA1

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:

rs80357069

BRCA1

0.700

CausalMutation

CLINVAR

Classification of BRCA1 missense variants of unknown clinical significance.

15689452

2005

dbSNP:

rs80357069

BRCA1

0.700

CausalMutation

CLINVAR

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.

15235020

2004

dbSNP:

rs80357069

BRCA1

0.700

CausalMutation

CLINVAR

Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer.

15133502

2004

dbSNP:

rs80357069

BRCA1

0.700

CausalMutation

CLINVAR

Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer.

15133502

2004

dbSNP:

rs80357069

BRCA1

0.700

CausalMutation

CLINVAR

Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition.

15172985

2004

dbSNP:

rs80357069

BRCA1

0.700

CausalMutation

CLINVAR

Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition.

15172985

2004

dbSNP:

rs80357069

BRCA1

0.700

CausalMutation

CLINVAR

Frequency of germline and somatic BRCA1 mutations in ovarian cancer.

9796975

1998