DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs80357571 ×

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:

rs80357571

BRCA1

0.700

CausalMutation

CLINVAR

Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility.

14684699

2003

dbSNP:

rs80357571

BRCA1

0.700

CausalMutation

CLINVAR

Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland.

11039575

2000

dbSNP:

rs80357571

BRCA1

0.700

CausalMutation

CLINVAR

Evidence of founder mutations in Finnish BRCA1 and BRCA2 families.

9585608

1998

dbSNP:

rs80357571

BRCA1

0.700

CausalMutation

CLINVAR

Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes.

9361038

1997

dbSNP:

rs80357571

BRCA1

0.700

CausalMutation

CLINVAR

A screening for BRCA1 mutations in breast and breast-ovarian cancer families from the Stockholm region.

9192828

1997