PALB2, partner and localizer of BRCA2, 79728

N. diseases: 260; N. variants: 410
Disease: Malignant neoplasm of breast ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177110
rs180177110
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.710 GeneticVariation BEFREE PALB2 c.2257C>T truncating variant is a Greek founder and is associated with high breast cancer risk. 31089269 2019
dbSNP: rs180177110
rs180177110
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		A 0.710 CausalMutation CLINVAR Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer. 21618343 2011
dbSNP: rs180177110
rs180177110
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		A 0.710 CausalMutation CLINVAR Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. 17200671 2007