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: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE Strong associations with CBC were found for carrying a BRCA1 (RR = 3.7; 95%CI:2.8-4.9), BRCA2 (RR = 2.8; 95%CI:1.8-4.3) or CHEK2 c.1100delC (RR = 2.7; 95%CI:2.0-3.7) mutation. 30580169 2019
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE Thus, we conducted a prospective study of the relationship between oophorectomy and the risk of contralateral breast cancer in 1781 BRCA1 and 503 BRCA2 mutation carriers with breast cancer. 30756284 2019
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 Biomarker disease BEFREE There were no significant differences in disease-free survival, overall survival, or breast cancer-specific survival (p = 0.799, 0.092, and 0.124, respectively) between BRCA 1/2 carriers and non-carriers, although BRCA 1/2 carriers showed significantly worse contralateral breast cancer-free survival (p < 0.0001) than non-carriers. 30350268 2019
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE In the multivariable model, BRCA1/2 germline mutation status, family history, and systemic adjuvant treatment showed the strongest associations with CBC risk. 31847907 2019
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE The incidence rate of contralateral breast cancer in BRCA1/2 mutation carriers was 0.99%/year. 29176636 2018
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE Purpose The Women's Environmental Cancer and Radiation Epidemiology (WECARE) study demonstrated the importance of breast cancer family history on contralateral breast cancer (CBC) risk, even for noncarriers of deleterious BRCA1/2 mutations. 29620998 2018
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE Notably, women with ER-/PR- first tumors were more likely to develop CBC with the ER-/PR- phenotype (RR = 5.4, 95% CI 3.0-9.5), and risk remained elevated in multiple subgroups: BRCA1/2 mutation non-carriers, women younger than 45 years of age, women without a breast cancer family history, and women who were not treated with tamoxifen. 28724391 2017
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE Contralateral prophylactic mastectomy (CPM) reduces the risk of contralateral breast cancer (BC) following unilateral BC, but may not increase survival in BRCA1/2 mutation negative women. 27969575 2017
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE BRCA1 carriers and non-carriers developed contralateral breast cancer at an earlier age than BRCA2 carriers. 27726213 2017
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE For contralateral breast cancer, the cumulative risk 20 years after breast cancer diagnosis was 40% (95% CI, 35%-45%) for BRCA1 and 26% (95% CI, 20%-33%) for BRCA2 carriers (hazard ratio [HR] for comparing BRCA2 vs BRCA1, 0.62; 95% CI, 0.47-0.82; P=.001 for difference). 28632866 2017
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE Moreover, contralateral prophylactic mastectomy (CPM) significantly decreased contralateral breast cancer incidence in BRCA1/2 mutation carriers (RR, 0.072; 95% CI, 0.035-0.148). 26979395 2016
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 Biomarker disease BEFREE Women diagnosed with breast cancer who carry pathogenic variants in genes with proven associations with breast cancer (BRCA1/2) or highly likely associations (PTEN, PALB2) require additional risk assessment to facilitate treatment decisions that will limit in-breast tumor recurrence and contralateral breast cancer. 27401444 2016
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE Age at first breast cancer is a strong risk factor for cumulative CBC risk in BRCA1/2 mutation carriers. 26700119 2016
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE Risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a 30-year semi-prospective analysis. 26239694 2015
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE Adjuvant radiotherapy for primary breast cancer in BRCA1 and BRCA2 mutation carriers and risk of contralateral breast cancer with special attention to patients irradiated at younger age. 26467044 2015
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE BRCA1/2 mutation status was predictive of contralateral breast cancer only. 26113392 2015
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE It can reasonably be offered to breast cancer patients with BRCA1 or BRCA2 mutation for the prevention of CBC. 26022977 2015
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE Female breast cancer patients with a BRCA1/2 mutation have an increased risk of contralateral breast cancer. 24423928 2014
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE The cumulative 5-years risk of CBC for BRCA1 and BRCA2 mutation carriers was 15% (95% CI: 9.5%-20%) and 9% (95% CI: 5%-14%), respectively. 25467311 2014
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. 24951267 2014
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE The average cumulative risks by age 70 years for BRCA1 carriers were estimated to be 60% (95% confidence interval [CI] = 44% to 75%) for breast cancer, 59% (95% CI = 43% to 76%) for ovarian cancer, and 83% (95% CI = 69% to 94%) for contralateral breast cancer. 23628597 2013
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE The risk of primary and contralateral breast cancer after ovarian cancer in BRCA1/BRCA2 mutation carriers: Implications for counseling. 23165859 2013
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE Contralateral breast cancer risk in BRCA1/2-positive families needs to be adjusted for phenocopy rates particularly in second-degree untested relatives. 23448362 2013
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE We examined whether the risk of CBC associated with radiation treatment was higher among women with germline BRCA1/BRCA2 mutations than among non-carriers. 23706288 2013
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE BRCA1 or BRCA2 mutation carriers more accurately perceived their risk for contralateral breast cancer, whereas women without a known mutation substantially overestimated this risk. 24042365 2013