DisGeNET - a database of gene-disease associations

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1, C2676676

Variant: rs80357906 ×

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:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

Frequency of 5382insC mutation of BRCA1 gene among breast cancer patients: an experience from Eastern India.

23232912

2013

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.

22430266

2012

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

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

21324516

2011

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

Genotype-phenotype correlations among BRCA1 4153delA and 5382insC mutation carriers from Latvia.

22032251

2011

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

22006311

2011

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations.

21119707

2011

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

Prevalence of the most frequent BRCA1 mutations in Polish population.

21503673

2011

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.

23199084

2010

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus.

20569256

2010

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

The contribution of founder mutations in BRCA1 to breast and ovarian cancer in Lithuania.

20345474

2010

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

The contribution of founder mutations in BRCA1 to breast cancer in Belarus.

20507347

2010

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations.

17307836

2007

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

BRCA1-positive breast cancers in young women from Poland.

16541315

2006

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

High prevalence of two BRCA1 mutations, 4154delA and 5382insC, in Latvia.

15951956

2005

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies.

15994883

2005

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

Strong founder effects in BRCA1 mutation carrier breast cancer patients from Latvia. Mutation in brief no. 258. Online.

10447273

1999

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2.

8841191

1996

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families.

7894492

1994