DisGeNET - a database of gene-disease associations

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2, C2675520

Variant: rs80359671 ×

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:

rs80359671

BRCA2

0.700

CausalMutation

CLINVAR

Tumour diploidy and survival in breast cancer patients with BRCA2 mutations.

23857704

2013

dbSNP:

rs80359671

BRCA2

0.700

CausalMutation

CLINVAR

BRCA2 heterozygosity delays cytokinesis in primary human fibroblasts.

19478387

2009

dbSNP:

rs80359671

BRCA2

0.700

CausalMutation

CLINVAR

Founder mutations in BRCA1 and BRCA2 genes.

17591843

2007

dbSNP:

rs80359671

BRCA2

0.700

CausalMutation

CLINVAR

Chromosome 8p alterations in sporadic and BRCA2 999del5 linked breast cancer.

10807692

2000

dbSNP:

rs80359671

BRCA2

0.700

CausalMutation

CLINVAR

The 8765delAG mutation in BRCA2 is common among Jews of Yemenite extraction.

9634522

1998

dbSNP:

rs80359671

BRCA2

0.700

CausalMutation

CLINVAR

Study of a single BRCA2 mutation with high carrier frequency in a small population.

9150155

1997

dbSNP:

rs80359671

BRCA2

0.700

CausalMutation

CLINVAR

The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds.

8589730

1996