BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: Medulloblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.630 Biomarker disease GENOMICS_ENGLAND Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group. 29661970 2018
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.630 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.630 GeneticVariation disease BEFREE A biallelic homozygous variation was demonstrated in the BRCA2 gene, which is important in medulloblastoma suppression, and may have caused medulloblastoma formation in the 13-year-old boy. 22044372 2011
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.630 AlteredExpression disease BEFREE Biallelic inactivation of BRCA2 in Fanconi anemia has been previously described in only 11 patients with medulloblastoma in the literature to date. 19530235 2009
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.630 Biomarker disease GENOMICS_ENGLAND Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. 16825431 2007
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.630 GeneticVariation disease BEFREE Two other kindreds each contained a Fanconi anemia-afflicted child who developed medulloblastoma; one child was of Latin American ancestry and a compound heterozygote for BRCA2*I2490T/ 5301insA and the other was African American and a compound heterozygote for BRCA2*Q3066X/E1308X. 14559878 2003
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.630 CausalMutation disease CLINVAR
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.630 Biomarker disease CTD_human
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.630 Biomarker disease HPO