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: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.100 GeneticVariation disease BEFREE For BC, BRCA carriers showed a more advanced histological stage, higher risk of bilateral neoplasms (OR = 4.3; 95% CI = 1.3-11.4, for BRCA2 carriers) and worse OS rate at 5-, 10- and 15- years, than women with sporadic tumors. 31771539 2019
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.100 AlteredExpression disease BEFREE Survival analyses revealed that BRCA1 expression was associated with the decreased disease-free survival (DFS) rate of patients with FBC (versus no BRCA1 expression) and that FANCD2 was associated with decreased DFS of patients with SBC (versus no FANCD expression). 30881493 2019
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.100 AlteredExpression disease BEFREE It is well known that BRCA1 and BRCA2 play a central role in DNA repair, but the relationship between BRCA1 and BRCA2 mRNA expression and response to neoadjuvant chemotherapy in sporadic breast cancer patients has not been well established. 29047188 2018
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.100 AlteredExpression disease BEFREE The purpose of this study was to evaluate the level of expression of the BRCA1 and BRCA2 proteins in sporadic breast cancer cases to determine the functional role of these genes in breast carcinogenesis. 25879355 2016
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.100 GeneticVariation disease BEFREE Whereas the cumulative 10-year incidence of second primary breast cancer is high in BRCA1 mutation carriers, the estimates in BRCA2 mutation carriers and women with variants of unknown clinical significance are similar to those reported in women with sporadic breast cancer. 25975955 2015
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.100 GeneticVariation disease BEFREE A novel BRCA2 in frame deletion in a Tunisian woman with early onset sporadic breast cancer. 26320393 2015
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.100 GeneticVariation disease BEFREE MD was associated with subsequent development BC (OR per category of MD=1.45; 95 % confidence interval=1.18-1.78, P-value<0.001), with no significant differences between BRCA1 and BRCA2 mutation carriers (P-value=0.48). 26163143 2015
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.100 Biomarker disease BEFREE Early-onset diagnosis is an eligibility criterion for BRCA1 and BRCA2 (BRCA) testing in sporadic breast cancer patients. 25342642 2014
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.100 Biomarker disease BEFREE These findings uncover a BRCA2 regulatory and signaling pathway in sporadic breast cancer and support a functionally and clinically relevant epigenetic mechanism in cancer pathogenesis. 22158906 2012
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.100 GeneticVariation disease BEFREE Low prevalence of BRCA1 and BRCA2 mutations in the sporadic breast cancer of Spanish population. 21918853 2012
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.100 PosttranslationalModification disease BEFREE The aim of this study was to evaluate the contribution of the BRCA1 and BRCA2 promoter methylation in the pathogenesis of sporadic breast cancer in Tunisian patients. 21978880 2012
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.100 GeneticVariation disease BEFREE Here, we explore the relationships between the MSA and the Rad51 gene, which encodes a DNA repair enzyme that interacts with BRCA1 and BRCA2, in BRCA1 mutation carriers and women with sporadic breast cancer. 21708019 2011
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.100 Biomarker disease BEFREE In addition, EMSY amplification occurred at a lower frequency in BRCA2 mutation carriers providing evidence to support EMSY amplification as a somatic surrogate for BRCA2 loss in sporadic breast cancer. 19636701 2010
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.100 Biomarker disease BEFREE More recently, strategies to target the underlying genetic defects in BRCA1- and BRCA2-associated breast and ovarian cancers are emerging and may have implications for certain types of sporadic breast cancer. 20816575 2010
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.100 Biomarker disease BEFREE BRCA2-associated breast cancer is more sensitive to standard first-line chemotherapy for metastatic breast cancer in comparison with sporadic breast cancer, especially to anthracyclines. 19564533 2009
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.100 GeneticVariation disease BEFREE The aim of the current study was to investigate the frequency of these BRCA1 and BRCA2 mutations in southern Iranian familial and sporadic cases with breast cancer.Two hundred fifty women with sporadic breast cancer, 55 women with a familial history of breast cancer in their first degree-relatives and 200 healthy women formed the studied groups. 19877752 2009
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.100 Biomarker disease BEFREE The studies we have performed during the last few years in familial breast tumours (BRCA1, BRCA2 and non-BRCA1/2) widen questions about the development of sporadic breast cancer to hereditary breast cancer. 18596026 2008
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.100 GeneticVariation disease BEFREE Hereditary breast cancer arising in carriers of mutations in the BRCA1 and BRCA2 genes differs from sporadic breast cancer and from non-BRCA1/2 familial breast carcinomas. 18544963 2008
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.100 GeneticVariation disease BEFREE Using breast cancer tumour microarrays, immunohistochemical expression of cytokeratin (CK)-5/6, CK-14 and CK-17 was evaluated in breast tumours from BRCA1 families (n = 46), BRCA2 families (n = 40), non-BRCA1/BRCA2 families (n = 358) and familial breast cancer patients with one first-degree relative affected by breast or ovarian cancer (n = 270), as well as from patients with sporadic breast cancer (n = 364). 18275599 2008
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.100 GeneticVariation disease BEFREE The aim of this study was to determine if there is any difference in PML protein expression in breast cancer of BRCA1 and BRCA2 gene mutation carriers compared to sporadic breast cancer and if the PML protein can be used as a prognostic marker. 17822314 2007
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.100 GeneticVariation disease BEFREE Implication of BRCA2 -26G>A 5' untranslated region polymorphism in susceptibility to sporadic breast cancer and its modulation by p53 codon 72 Arg>Pro polymorphism. 17945002 2007
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.100 AlteredExpression disease BEFREE In conclusion, this study reports for the first time CAV1 expression in BRCA1 and BRCA2 hereditary breast cancer and identifies CAV1 as a marker associated with a basal-like-phenotype in both hereditary and sporadic breast cancer. 16541313 2006
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.100 GeneticVariation disease BEFREE Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer. 17100994 2006
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.100 Biomarker disease BEFREE The BRCAx-related tumors were characterized by more frequent LOH at 22q relative to sporadic breast cancer (P < 0.02), and differed significantly from BRCA1- and BRCA2-related tumors in their positivity for Bcl2. 16551851 2006
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.100 GeneticVariation disease BEFREE These data add substantial weight to the evidence that the outcomes in the treated breast from radiotherapy in women with BRCA1 or BRCA2 mutations are comparable with those in women with sporadic breast cancer. 17145824 2006