rs180177110, PALB2

N. diseases: 4
Disease: Malignant neoplasm of breast ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of breast
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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.710 CausalMutation CLINVAR Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer. 21618343 2011
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.710 CausalMutation CLINVAR Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. 17200671 2007