DisGeNET - a database of gene-disease associations

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Variant: rs80356937 ×

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:

rs80356937

BRCA1

0.700

CausalMutation

CLINVAR

High prevalence of BRCA1 founder mutations in Greek breast/ovarian families.

24010542

2014

dbSNP:

rs80356937

BRCA1

0.700

CausalMutation

CLINVAR

Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases.

23536787

2013

dbSNP:

rs80356937

BRCA1

0.700

CausalMutation

CLINVAR

BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients.

21918854

2012

dbSNP:

rs80356937

BRCA1

0.700

CausalMutation

CLINVAR

Sequence Variants of BRCA1 and BRCA2 Genes in Four Iranian Families with Breast and Ovarian Cancer.

23113073

2011

dbSNP:

rs80356937

BRCA1

0.700

CausalMutation

CLINVAR

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

20516115

2010

dbSNP:

rs80356937

BRCA1

0.700

CausalMutation

CLINVAR

G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history.

17902052

2008

dbSNP:

rs80356937

BRCA1

0.700

CausalMutation

CLINVAR

Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients.

17453335

2008

dbSNP:

rs80356937

BRCA1

0.700

CausalMutation

CLINVAR

BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer.

18465347

2008

dbSNP:

rs80356937

BRCA1

0.700

CausalMutation

CLINVAR

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.

17308087

2007

dbSNP:

rs80356937

BRCA1

0.700

CausalMutation

CLINVAR

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

17305420

2007

dbSNP:

rs80356937

BRCA1

0.700

CausalMutation

CLINVAR

Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

18036263

2007

dbSNP:

rs80356937

BRCA1

0.700

CausalMutation

CLINVAR

Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.

16489001

2006

dbSNP:

rs80356937

BRCA1

0.700

CausalMutation

CLINVAR

Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer.

15353005

2004

dbSNP:

rs80356937

BRCA1

0.700

CausalMutation

CLINVAR

Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families.

11157798

2001

dbSNP: