and BRCA1
<p>Olaparib and Pembrolizumab Treatment for <em>BRCA1</em>-Mutated and PD-L1-Positive Intrahepatic Cholangiocarcinoma Recurrence and Metastasis: A Case Report</p>
... 18 BRCA1 is a tumor suppressor gene that can encode a nucleic acid protein that keeps the genome stable and plays an important role in transcription, double-stranded DNA repair and DNA ...recombination. ...
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The predictive value of 53BP1 and BRCA1 mRNA expression in advanced non-small-cell lung cancer patients treated with first- line platinum-based chemotherapy
... protein BRCA1 is recruited at the sites of DNA damage through a mechanism that includes the localization of the MRE11-RAD50-NBS1 (MRN) complex at double- strand break sites, the activation of phosphoinositide-3- ...
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Distinct functions of BRCA1 and BRCA2 in double strand break repair
... the BRCA1/BACH1 complex is BARD1 ...for BRCA1-interacting proteins, both BARD1 and BRCA1 contain a conserved RING finger motif, which is often linked to either DNA binding or ubiq- uitination ...of ...
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The BRCA1-Δ11q Alternative Splice Isoform Bypasses Germline Mutations and Promotes Therapeutic Resistance to PARP Inhibition and Cisplatin.
... of BRCA1-Δ11q expression in tumors, we first measured PARPi responsiveness and BRCA1 isoform expression in two individual BRCA1 exon 11–mutant PDX ...same BRCA1-exon 11 2080delA mutation ...
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Effect of BRCA1 on epidermal growth factor receptor in ovarian cancer
... and BRCA1 can be found in the same protein complex, and convergence exists between EGFR- and BRCA1-related signaling pathways [8,9]; and (iii) BRCA1 mutations are vulnerable to the development of ...
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Downregulation of TGF-β1 suppressed proliferation and increased chemosensitivity of ovarian cancer cells by promoting BRCA1/Smad3 signaling
... that BRCA1 is involved in the regulation of tumor chemotherapy resistance and proliferation [18, ...decreased BRCA1 expression compared with wildtype SKOV3 ...promoted BRCA1 expression ...
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BP1, an Isoform of DLX4 Homeoprotein, Negatively Regulates BRCA1 in Sporadic Breast Cancer
... between BRCA1 and BP1 expression, sets of two immediate adjacent sections from each case were immunostained with affinity purified rabbit polyclonal antibodies raised against a peptide mapping at the C-terminus of ...
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HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures.
... for BRCA1/BRCA2 deficiency do not have canonical mutations ...sequencing BRCA1/BRCA2 genes and performing methylation assays would miss this cohort of patients that could be functionally deficient incurred ...
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Reduced BRCA1 transcript levels in freshly isolated blood leukocytes from BRCA1 mutation carriers is mutation specific
... mutant BRCA1 mRNA has been shown to result in a ...distinct BRCA1 mutations among the 22 study participants with a known BRCA1 ...lower BRCA1 mRNA expression counts compared to mutations that ...
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Investigation of a novel +ACA BRCA1 promoter polymorphism and its impact on the breast cancer susceptibility phenotype
... of BRCA1 include a N-terminus RING finger and an acidic residue-rich C-terminus which are domains that are associated with transcription factors and trans-activators (Figure 2) (Kerr and Ashworth, 2001; Starita ...
147
Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank
... of BRCA1/2 ex- pected pathogenic variants may represent an underesti- mate, as certain variants would not be detected via this approach, including large copy number variants, which make up approximately 10% of all ...
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Selected aspects of genetic counselling for BRCA1 mutation carriers
... founder BRCA1 mutations which are common in the Polish ...a BRCA1 mutation, and 1760 women (35%) had stronger family predisposition to breast and/or ovarian ...
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Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations
... mutant BRCA1 or BRCA2 gene is the best-established indicator of an increased risk of developing breast ...identify BRCA1/2 mutation carriers, though these efforts are hampered by the high frequency of ...
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Mitochondrial fission determines cisplatin sensitivity in tongue squamous cell carcinoma through the BRCA1–miR-593-5p–MFF axis
... tumors. BRCA1 is a tumor suppressor gene located on chromosome 17q21 that has been intensively investigated as participating in the repair of cisplatin-induced DNA double-strand breaks ...in BRCA1 ...
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Germline <em>BRCA1</em> and <em>BRCA2</em> deleterious mutations and variants of unknown clinical significance associated with breast/ovarian cancer: a report from North India
... for BRCA1 and BRCA2 mutations, respectively, whereas 1/206 was positive for a mutation in both the ...distinct BRCA1 mutations were observed, among which 27 were deleterious (12 frameshifts, 8 nonsense, 1 ...
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Prevalence and predictors of loss of wild type BRCA1 in estrogen receptor positive and negative BRCA1 associated breast cancers
... for BRCA1 tumors was missing from the pathology report, paraffin blocks were re-cut and sections were immunos- tained for ER (SP1 antibody, Neomarkers, Fremont, CA, USA), PR (PgR 636 antibody, Dako, Carpinteria, ...
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“DNA Binding Region” of BRCA1 Affects Genetic Stability through modulating the Intra-S-Phase Checkpoint
... human BRCA1, and found that BRCA1 brings DNA together and preferably binds to splayed-arm DNA in a sequence-independent ...by BRCA1 affects the stability of DNA replication folks, resulting in ...
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Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study.
... with BRCA1 and BRCA2 mutations compared with the general population this may lead to an underestimation of the ...from BRCA1 families had undergone bilateral oophorectomy with or without bilateral ...
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The role of BRCA1 in homologous recombination repair in response to replication stress: significance in tumorigenesis and cancer therapy
... in Brca1 Δ11/Δ11 ...in Brca1 −/− cells as compared with Brca1 +/+ ...in Brca1 [101]. All of the data uncover an essential role of BRCA1 in maintaining genetic stability through numerous ...
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Secondary BRCA1 Mutations in BRCA1-Mutated Ovarian carcinomas with platinum resistance.
... The genetically-reverted wild-type allele was then lost at some point during the disease course. In the recurrent tumor, we could no longer detect wild-type sequence, but we found a second site small deletion ...
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