BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE At the molecular level, MTDH has been shown to interact with proteins that drive tumorigenesis, including nuclear factor-κB (NF-κB), promyelocytic leukaemia zinc finger (PLZF), BRCA2- and CDKN1A (p21Cip1/Waf-1/mda-6)-interacting protein α (BCCIPα) and staphylococcal nuclease and tudor domain containing 1 (SND1). 28627585 2017
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE We followed 7243 women with a BRCA1 or a BRCA2 mutation for incident cases of leukaemia. 26986251 2016
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Furthermore, bi-allelic mutations in BRCA2 are linked to FA, a rare chromosome instability syndrome characterized by aplastic anemia in children as well as susceptibility to leukemia and cancer. 27530658 2016
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Children with biallelic mutations in FANCD1/BRCA2 are at uniquely high risks of leukemia and solid tumors. 26183081 2015
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE In a minority of cases, FA results from biallelic FANCD1/BRCA2 mutations that are associated with early-onset leukaemia and solid tumours. 24301060 2014
CUI: C0023418
Disease: leukemia
leukemia
0.100 AlteredExpression disease BEFREE BRCA-deficient status predisposing to RAD52-dependent synthetic lethality could be predicted by genetic abnormalities such as oncogenes BCR-ABL1 and PML-RAR, mutations in BRCA1 and/or BRCA2 genes, and gene expression profiles identifying leukemias displaying low levels of BRCA1 and/or BRCA2. 23836560 2013
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Biallelic FANCD1/BRCA2 mutations are the genetic basis of disease in a small proportion of children with FA with earlier onset and increased incidence of leukemia and solid tumors. 21548014 2012
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE The small group of patients with biallelic mutations in BRCA2 is distinctive in the severity of the phenotype, and early onset and high rates of leukaemia and specific solid tumours, and may comprise an extreme variant of Fanconi anaemia. 16825431 2007
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE The present study was designed to test the hypothesis that inactivation of virtually any component within the pathway containing the BRCA1 and BRCA2 proteins would increase the risks for lymphomas and leukemias. 17683622 2007
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Our results suggest that BRCA2 testing should be considered in all patients with FA in whom the complementation group cannot be defined or in whom leukemia is diagnosed at or before 5 years of age. 15070707 2004
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease LHGDN Our results suggest that BRCA2 testing should be considered in all patients with FA in whom the complementation group cannot be defined or in whom leukemia is diagnosed at or before 5 years of age. 15070707 2004
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Tumours of the stomach and cervix, as well as melanoma and leukaemia/lymphoma also occur in these pedigrees but the numbers are too low to determine whether they may be significantly associated with BRCA2 carrier status. 8682513 1996