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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype 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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 AlteredExpression phenotype BEFREE We found that four E3 ubiquitin ligases (UHRF1, BRCA1, TRAIP and HLTF) and one regulator of ubiquitin E3 activity DCUN1D1 that were dramatically up-regulated in cancer were significantly associated with tumor metastasis and patient's poor prognosis both in two transcriptome data sets. 30528265 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 AlteredExpression phenotype BEFREE We have further identified an association between low levels of BRCA1 expression and acquisition of distant metastasis in sporadic disease (p=0.019). 10371343 1999
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation phenotype BEFREE Therapy susceptible germline-related BRCA 1-mutation in a case of metastasized mixed adeno-neuroendocrine carcinoma (MANEC) of the small bowel. 29855275 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE The site of first metastasis was visceral-only in 70 % of BRCA1 carriers compared to 9 % in BRCA2 carriers and 37 % in non-carriers (P = 0.001).Median follow-up was 2.8 years. 23370825 2013
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation phenotype BEFREE A specific BRCA1 variant and > 3.5 pathogenic variants significantly associated with a reduced survival after diagnosis of metastasis. 31254045 2020
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation phenotype BEFREE BRCA1 mutation carriers are predisposed to developing basal-like breast cancers with high metastasis and poor prognosis. 25239453 2014
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 AlteredExpression phenotype BEFREE Hence, we speculated that mutations in the tumor suppressor gene, BRCA1, which is already reported to induce metastasis via abnormal expression of Ezrin, Radixin and Moesin (ERM), could generate MAF. 30224826 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE Hybrid Capture-Based Tumor Sequencing and Copy Number Analysis to Confirm Origin of Metachronous Metastases in <i>BRCA1-</i>Mutant Cholangiocarcinoma Harboring a Novel <i>YWHAZ-BRAF</i> Fusion. 29622700 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation phenotype BEFREE EOBC BRCA1/2 carriers are at risk to develop bilateral disease; however, they are similarly susceptible for local recurrence, distant metastases and mortality. 27726213 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 AlteredExpression phenotype BEFREE Lack of BRCA1 expression was associated with node metastases and decreased estrogen receptor. 16334138 2006
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE BRCA1 gains correlated to shorter time to metastasis (p = 0.012) and expression of ALDH1 (p = 0.014). 30265376 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation phenotype BEFREE Our results confirm that BRCA1/2 mutations confer a more aggressive PCa phenotype with a higher probability of nodal involvement and distant metastasis. 23569316 2013
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE All cases with BRCA1 or 2 abnormalities showed either pushing pattern metastases (76%) or infiltrative metastases composed only of micropapillae (24%). 24577588 2014
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE Relapse after chemotherapy (p < 0.00001), and local recurrence/distant metastasis after surgery (p = 0.0028) were more pronounced in TNBC patients with BRCA1-IRIS-overexpressing tumors compared to non-TNBC patients. 28499366 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE Patterns of recurrence and metastasis in BRCA1/BRCA2-associated breast cancers. 31581314 2020
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation phenotype BEFREE Genes in the BRCA1 preneoplastic signature included several known tumor suppressor genes such as CDKN1C and EFEMP1 and several thought to be important in invasion and metastasis such as E2F3. 21170264 2010
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation phenotype BEFREE Cumulative distant metastasis-free and overall survival at 6 years in all 42 BRCA1/2 mutation carriers with invasive breast cancer were 83.9% (95% CI, 64.1% to 93.3%) and 92.7% (95% CI, 79.0% to 97.6%), respectively, and 100% in the familial groups (n=43). 21079137 2010
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation phenotype BEFREE Our results on this case of a patient with BRCA1-mutant breast and ovarian cancer demonstrate that massively parallel sequencing may constitute a useful tool to define the relationship, clonality and intra-tumor genetic heterogeneity between primary tumor masses and their metastatic deposits in patients with multiple primary malignancies and synchronous metastases. 24220311 2014
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 AlteredExpression phenotype BEFREE These predicted miRs were confirmed by Q-PCR analysis and correlated with BRCA1 protein expression among patients along with potential distant metastases. 25273865 2014
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 AlteredExpression phenotype BEFREE Neither BRCA1 nor BRCA2 expression was associated with tumor histology, differentiation, nodal metastasis or p53 and HER-2 expression. 19012002 2009
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE Estrogen activated EMT in a subset of Brca1-deficient mammary tumor cells that maintained epithelial features, and enhanced the number of cancer stem cells, promoting tumor progression and metastasis. 29996906 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE Normal ovarian epithelial cells overexpressing BRCA1-IRIS formed metastasis in mice when injected in the peritoneal cavity, whereas aggressive ovarian cancer cell lines failed to form tumors or metastases in mice when BRCA1-IRIS was silenced in them. 25132263 2015
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation phenotype BEFREE We propose that the unique molecular pathogenesis of BRCA1-related PSCP may affect the ability of current methods to reliably prevent or detect this disease prior to metastasis. 10728699 2000
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 AlteredExpression phenotype BEFREE Our recent study showing association of hyperhomocysteinemia and hypomethioninemia in breast cancer and other studies indicating association of hyperhomocysteinemia with metastasis and development of drug resistance in breast cancer cells treated with homocysteine lead us to hypothesize that homocysteine might modulate the expression of certain tumor suppressors, i.e., RASSF1, RARβ1, CNND1, BRCA1, and p21, and might influence prognostic markers such as BNIP3 by inducing epigenetic alteration. 23934182 2014