DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Neoplastic Syndromes, Hereditary ×

Variant: rs180177143 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs180177143

PALB2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland.

28279176

2017

dbSNP:

rs180177143

PALB2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

28724667

2017

dbSNP:

rs180177143

PALB2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis.

25959805

2015

dbSNP:

rs180177143

PALB2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

The PALB2 gene is a strong candidate for clinical testing in BRCA1- and BRCA2-negative hereditary breast cancer.

24136930

2013

dbSNP:

rs180177143

PALB2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Rare occurrence of PALB2 mutations in ovarian cancer patients from the Volga-Ural region.

22310028

2012

dbSNP:

rs180177143

PALB2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.

21285249

2011

dbSNP:

rs180177143

PALB2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer.

21618343

2011

dbSNP:

rs180177143

PALB2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene.

19264984

2009