BARD1, BRCA1 associated RING domain 1, 580

N. diseases: 55; N. variants: 22
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma
0.110 GeneticVariation disease BEFREE Loss of heterozygosity studies suggest a causative role of the BARD1 mutation in the development of primary peritoneal cancer, but fail to confirm an association between germline ATM mutations and breast cancer development in this family. 28139868 2017