Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886040340
rs886040340
BRCA2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 GeneticVariation BEFREE Our findings establish L35P as the first pathogenic missense mutation in PALB2 and directly demonstrate the requirement of the PALB2-BRCA1 interaction for breast cancer suppression. 28319063

2017