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: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 GeneticVariation phenotype BEFREE Due to compromised homologous recombination (HR) repair, BRCA1- and BRCA2-mutated tumours accumulate DNA damage and genomic rearrangements conducive of tumour progression. 31273933 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 Biomarker phenotype BEFREE To evaluate the role of constitutive epigenetic changes in normal body cells of BRCA1/BRCA2-mutation negative patients, we have developed a deep bisulfite sequencing assay targeting the promoter regions of 8 tumor suppressor (TS) genes (BRCA1, BRCA2, RAD51C, ATM, PTEN, TP53, MLH1, RB1) and the estrogene receptor gene (ESR1), which plays a role in tumor progression. 29659014 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 GeneticVariation phenotype BEFREE This treatment combination also elicited significant antitumour activity in mice bearing orthotopic KPC-luc tumours and limited tumour progression in KPC-Brca2 mice (p<0.001). 27797936 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 GeneticVariation phenotype BEFREE The BRCA2 gene is known to be an important tumor suppressor in ovarian cancer, thereby BRCA2 alterations may lead to cancer progression. 26745123 2015
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 Biomarker phenotype BEFREE The expression of six AI-selected genes (LIG3, FAS, KRT18, ICAM1, DSG2, and BRCA2) was determined using commercial antibodies and successfully identified tumour progression (concordance index: 0.66; log-rank test: p=0.01). 19913990 2010
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 GeneticVariation phenotype BEFREE Significant association between deletion in BRCA2 and RB1 gene loci may indicate functional relationship between the genes in this tumour progression. 16623759 2006
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 Biomarker phenotype BEFREE This suggests that phenotypic characteristics may contribute to the identification of hereditary BRCA2-related male breast cancers and that these tumors might share a unique molecular pathway of cancer progression. 12543786 2003
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 Biomarker phenotype BEFREE Our data also suggest that TSGs located in areas where no LOH was detected (PTEN, MEN1, Cyclin D1, BRCA2 and RFC3) are not involved or do not have an important role in tumour progression. 11720845 2001
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 GeneticVariation phenotype BEFREE Furthermore, the presence of a highly penetrant germline BRCA2 mutation apparently leads to a characteristic somatic tumor progression pathway, again shared between affected male and female mutation carriers. 9892109 1999
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 GeneticVariation phenotype BEFREE This higher frequency of genetic aberrations could pinpoint genes that selectively promote tumor progression in individuals predisposed to breast cancer due to the BRCA2 999del5 germ-line mutation. 9766673 1998
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 GeneticVariation phenotype BEFREE Distinct somatic genetic changes associated with tumor progression in carriers of BRCA1 and BRCA2 germ-line mutations. 9102202 1997