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: rs180177135
rs180177135
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. 28281021 2017
dbSNP: rs180177135
rs180177135
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Breast-cancer risk in families with mutations in PALB2. 25099575 2014
dbSNP: rs180177135
rs180177135
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. 17200671 2007