DisGeNET - a database of gene-disease associations

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Variant: rs80357389 ×

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:

rs80357389

BRCA1

0.700

CausalMutation

CLINVAR

Pathogenicity evaluation of BRCA1 and BRCA2 unclassified variants identified in Portuguese breast/ovarian cancer families.

24607278

2014

dbSNP:

rs80357389

BRCA1

0.700

CausalMutation

CLINVAR

First description of an acinic cell carcinoma of the breast in a BRCA1 mutation carrier: a case report.

23374397

2013

dbSNP:

rs80357389

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:

rs80357389

BRCA1

0.700

CausalMutation

CLINVAR

BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela.

23096355

2012

dbSNP:

rs80357389

BRCA1

0.700

CausalMutation

CLINVAR

Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.

22144684

2012

dbSNP:

rs80357389

BRCA1

0.700

CausalMutation

CLINVAR

Mutation screening of RAD51C in high-risk breast and ovarian cancer families.

22476429

2012

dbSNP:

rs80357389

BRCA1

0.700

CausalMutation

CLINVAR

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.

22505045

2012

dbSNP:

rs80357389

BRCA1

0.700

CausalMutation

CLINVAR

Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.

21324516

2011

dbSNP:

rs80357389

BRCA1

0.700

CausalMutation

CLINVAR

EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.

21120943

2011

dbSNP:

rs80357389

BRCA1

0.700

CausalMutation

CLINVAR

Mutations and polymorphic BRCA variants transmission in breast cancer familial members.

20352487

2011

dbSNP:

rs80357389

BRCA1

0.700

CausalMutation

CLINVAR

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

18159056

2007

dbSNP:

rs80357389

BRCA1

0.700

CausalMutation

CLINVAR

Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model.

12915465

2003

dbSNP:

rs80357389

BRCA1

0.700

CausalMutation

CLINVAR

BRCA mutations in Italian breast/ovarian cancer families.

11938448

2002

dbSNP:

rs80357389

BRCA1

0.700

CausalMutation

CLINVAR

A genetic epidemiological study of carcinoma of the fallopian tube.

11263928

2001

dbSNP:

rs80357389

BRCA1

0.700

CausalMutation

CLINVAR

The breast cancer information core: database design, structure, and scope.

10923033

2000

dbSNP:

rs80357389

BRCA1

0.700

CausalMutation

CLINVAR

Mutation in the coding region of the BRCA1 gene leads to aberrant splicing of the transcript.

10571952

1999

dbSNP:

rs80357389

BRCA1

0.700

CausalMutation

CLINVAR

BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing.

9333265

1997