DisGeNET - a database of gene-disease associations

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Variant: rs80359550 ×

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:

rs80359550

BRCA2

0.700

CausalMutation

CLINVAR

Sanger Sequencing for BRCA1 c.68_69del, BRCA1 c.5266dup and BRCA2 c.5946del Mutation Screen on Pap Smear Cytology Samples.

26867194

2016

dbSNP:

rs80359550

BRCA2

0.700

CausalMutation

CLINVAR

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

25452441

2015

dbSNP:

rs80359550

BRCA2

0.700

CausalMutation

CLINVAR

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

22430266

2012

dbSNP:

rs80359550

BRCA2

0.700

CausalMutation

CLINVAR

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

20104584

2010

dbSNP:

rs80359550

BRCA2

0.700

CausalMutation

CLINVAR

Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis.

20736950

2010

dbSNP:

rs80359550

BRCA2

0.700

CausalMutation

CLINVAR

Associations of high-grade prostate cancer with BRCA1 and BRCA2 founder mutations.

19188187

2009

dbSNP:

rs80359550

BRCA2

0.700

CausalMutation

CLINVAR

Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2.

18607349

2008

dbSNP:

rs80359550

BRCA2

0.700

CausalMutation

CLINVAR

Functional evaluation and cancer risk assessment of BRCA2 unclassified variants.

15695382

2005

dbSNP:

rs80359550

BRCA2

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:

rs80359550

BRCA2

0.700

CausalMutation

CLINVAR

High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area.

16168118

2005

dbSNP:

rs80359550

BRCA2

0.700

CausalMutation

CLINVAR

De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation.

10417300

1999

dbSNP:

rs80359550

BRCA2

0.700

CausalMutation

CLINVAR

Double heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes.

9758598

1998

dbSNP:

rs80359550

BRCA2

0.700

CausalMutation

CLINVAR

The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women.

9042909

1997

dbSNP:

rs80359550

BRCA2

0.700

CausalMutation

CLINVAR

The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews.

9145676

1997

dbSNP:

rs80359550

BRCA2

0.700

CausalMutation

CLINVAR

A common mutation in BRCA2 that predisposes to a variety of cancers is found in both Jewish Ashkenazi and non-Jewish individuals.

8758903

1996

dbSNP:

rs80359550

BRCA2

0.700

CausalMutation

CLINVAR

BRCA2 germline mutations in male breast cancer cases and breast cancer families.

8673091

1996