BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.020 Biomarker group BEFREE Mice lacking Brca1 in the BM have baseline cytopenias and develop spontaneous bone marrow failure or diverse hematologic malignancies by 6 months of age. 26644450 2016
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.020 GeneticVariation group BEFREE To further our clinical understanding of familial BC and examine whether haematological malignancies are predictive of ATM germline mutation, we estimated the frequency of heterozygote mutation carriers in a series of 122 BC women with a family history of both BC and haematological malignancy and without BRCA1/2 mutation. 19404735 2010