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 Carriers of BRCA1 and BRCA2 mutations have an increased risk of contralateral breast cancer and cancer of the ovary. 15952973 2005
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 Biomarker disease BEFREE Patients with BRCA1-associated breast cancer had twice as many progesterone-receptor-negative tumours (p<0.005) and development of contralateral breast cancer was four to five times as frequent as in the sporadic group (p<0.001). 9652611 1998
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 Biomarker disease BEFREE ER-status of the first breast cancer was predictive of ER-status of asynchronous contralateral breast cancer (P = 0.0004 for BRCA1; P = 0.002 for BRCA2). 22144499 2012
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 Mutations of the BRCA1 or BRCA2 genes have been shown to strongly predispose towards the development of contralateral breast cancer in patients from large multi-case families. 11556836 2001
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 Biomarker disease BEFREE Tumour size (hazard ratio (HR) 1.02 per mm increase, P = 0.016) and node status (HR 2.6 for three or more involved nodes versus node negative, P = 0.017) were independent predictors of overall survival in the familial non-BRCA1/2 group, and in the whole group, whereas contralateral breast cancer (HR 0.7, P = 0.503) and risk-reducing contralateral mastectomy (HR 0.4, P = 0.163) were not. 16758466 2006
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 Oral contraceptives and postmenopausal hormones and risk of contralateral breast cancer among BRCA1 and BRCA2 mutation carriers and noncarriers: the WECARE Study. 19597986 2010
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 Biomarker disease BEFREE The rate of contralateral breast cancer was significantly increased in all patients with a family history: BRCA1/2 carriers versus controls (p=0.0003), non-carriers versus controls (p=0.0034) and carriers versus non-carriers (p=0.02). 16140006 2005
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE BRCA1 mutation carriers had a significantly earlier age of diagnosis than non-carriers (p = 0.0001) and more frequently developed contralateral breast cancer (p = 0.04). 10817354 2000
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 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 Conditional logistic regression was used to compare the risk of CBC associated with chemotherapy and tamoxifen in BRCA1/BRCA2 mutation carriers and non-carriers. 20135344 2010
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE Recent studies indicate that high-risk breast cancer patients (ie, women who carry mutations in BRCA1/2 genes) who opt for contralateral prophylactic mastectomy (CPM) have a substantially reduced risk of developing contralateral breast cancer. 17159191 2007
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE The 15-year actuarial risk of contralateral breast cancer was 36.1% for women with a BRCA1 mutation and was 28.5% for women with a BRCA2 mutation. 21487411 2011
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE After 25 years, 62.9% (95% CI, 50.4% to 75.4%) of patients with BRCA1 mutation who were younger than 40 years of age at first breast cancer developed contralateral breast cancer, compared with only 19.6% (95% CI, 5.3% to 33.9%) of those who were older than 50 years of age at first breast cancer. 19858402 2009
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 GeneticVariation disease BEFREE In this study, we evaluated the association between these factors and CBC risk among BRCA1 and BRCA2 (BRCA1/2) mutation carriers and non-carriers. 20130978 2010
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 Biomarker disease BEFREE Women with BRCA1- or BRCA2-associated breast cancer are at increased risk for contralateral breast cancer and ovarian cancer and therefore may consider secondary cancer prevention strategies, such as prophylactic surgery and tamoxifen therapy. 10665701 2000
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
0.100 GeneticVariation disease BEFREE Tamoxifen protected against contralateral breast cancer for carriers of BRCA1 mutations (odds ratio 0.38, 95% CI 0.19-0.74) and for those with BRCA2 mutations (0.63, 0.20-1.50). 11130383 2000
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 This may explain the effectiveness of tamoxifen in preventing contralateral breast cancer development in BRCA1 mutation carriers. 18405391 2008