PALB2, partner and localizer of BRCA2, 79728

N. diseases: 260; N. variants: 410
Disease: Hereditary Breast and Ovarian Cancer Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776416
rs587776416
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2. 27624329 2016
dbSNP: rs587776416
rs587776416
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. 26315354 2015
dbSNP: rs587776416
rs587776416
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Integrated analysis of germline and somatic variants in ovarian cancer. 24448499 2014
dbSNP: rs587776416
rs587776416
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Breast-cancer risk in families with mutations in PALB2. 25099575 2014
dbSNP: rs587776416
rs587776416
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo. 24556926 2014