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: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Two tandem BRCA1 C-terminal (BRCT) domains are essential for the tumor suppression activity of BRCA1 and interact in a phosphorylation-dependent manner with proteins involved in DNA damage-induced checkpoint control, including the DNA helicase BACH1 and the CtBP-interacting protein (CtIP). 16101277 2005
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Instead, microsatellites defined a clear pattern of aneuploid genomic gains and losses among which, losses of BRCA1 at D17S855 and gains of plakoglobin at D17S846 significantly associated to grade III tumors and poor prognosis. 12883742 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE It has been suggested that other genetic and/or environmental factors modify not only the appearance but also the age of onset and type of tumor in BRCA1/2-associated cases. 16419081 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE We analyzed the effect of anti-EGFR monoclonal antibodies (mAbs; cetuximab and panitumumab) in combination with chemotherapeutic agents (docetaxel, cisplatin, and epirubicin) on EGFR-expressing TNBC cell lines that have different mutation statuses for one oncogene (KRAS) and two tumor suppressor genes (PTEN and BRCA1). 27864890 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE 'BRCAness' is a term used to describe cancer cells that behave similarly to tumors with BRCA1 or BRCA2 mutations. 29620483 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information. 17279547 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 PosttranslationalModification group BEFREE Interestingly, 66.7% of patients harbored methylated BRCA1 promoter in both WBC and tumors. 25403427 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE The breast and ovarian cancer-specific tumor suppressor BRCA1, along with its heterodimer partner BRCA1-associated RING domain protein (BARD1), plays important roles in DNA repair, centrosome regulation, and transcription. 24289923 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Sequencing of BRCA1 amplified from genomic DNA of lymphocytes and microdissected ovarian tumor cells of a familial ovarian cancer patient revealed three, rare heterozygous DNA variations (2418delA, 233G-->A, and IVS1-10T-->C) in both tumor and constitutional (lymphocyte) DNA. 10459348 1999
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE The breast cancer susceptibility protein 1 (BRCA1), a tumor suppressor, can modulate cellular antioxidant response and DNA repair. 30014904 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE We also discuss the impact of BRCA1 hypermethylation, as a form of epigenetic change, versus BRCA1 genetic mutations in tumour development. 12191635 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE By aligning stakeholder interests, the BRCA Testing to Treatment (BRCA TtoT) Community of Practice aims to develop a national strategy for tumour and germline <i>BRCA1/2</i> testing and genetic counselling in women with ovarian cancer. 30042185 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Hence, immunohistochemical detection of TP53 mutation could lead to misdiagnosis in approximately half of all BRCA1-related tumors. 19336573 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE In the studied TNBC cohort, 63 out of 144 (44 %) tumors were classified into the BRCA1-like category. 27756336 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Associating the outcome prediction with BRCA1 and/or BRCA2 mutation revealed a superior prognosis performance both in BRCA1/2-mutated and BRCA1/2 wild-type tumors. 27074572 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Intensive surveillance may not detect breast carcinoma at an early, curable stage in young women with BRCA1 or BRCA2 gene mutations because the growth rate of the tumors in these women most likely will be rapid and the density of the breast tissue may compromise detection. 10630176 1999
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE BRCA1 and BRCA2 are two major tumor suppressor genes for hereditary breast and ovarian cancer. 22179631 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE The challenge they pose is epitomized by BRCA1, a tumour suppressor gene in which germline loss-of-function variants predispose women to breast and ovarian cancer. 30209399 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE BRCA1 is a well-known tumor suppressor implicated in familial breast and ovarian cancer. 22936386 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE This locus has been associated with frequent loss of heterozygosity (LOH) and allelic imbalance in breast cancers; however, BRCA1 mutations are rare events in sporadic breast cancer with LOH in the region, suggesting that another tumor suppressor gene resides in this area. 16538531 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Consistent with earlier studies, TP53 mutations were present in the majority (96.6%) of the tumors studied, and mutations in BRCA1/2 that affect DNA repair were also detected frequently in 20.5% of the tumors. 31124283 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Patients and Methods Plasma and tumor samples were obtained from 30 patients with HGSC with either BRCA1 or BRCA2 germline mutation. 28414925 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE In this review, we discuss how the discovery of BRCA1 and BRCA2 has not only provided an understanding of the molecular processes that drive tumourigenesis but also reignited an interest in therapeutically exploiting loss-of-function alterations in tumour suppressor genes. 27528623 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 PosttranslationalModification group BEFREE The primary tumor for Patient 1 was negative for HPV but had aberrant hypermethylation of APC, MLH1 and BRCA1. 21225233 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Three of 32 tumors (9%) had pathogenic (ARUP class-5) BRCA1 gene alterations. 29453630 2018