DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers. [PDF]
PLoS Genetics, 2014 Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of ...
Ana Osorio +199 more
doaj +5 more sources
Exon-Specific Targeted Analysis of and Mutations in Bangladeshi Breast Cancer Patients [PDF]
Cancer InformaticsBackground: Breast cancer (BC) is a leading cause of death among women. Pathogenic variations (PVs) in BRCA1 and BRCA2 genes increase the risk of hereditary and Triple-negative breast cancer (TNBC). Despite its great importance, NGS-based genetic testing
Shuvra Dutta +4 more
doaj +2 more sources
BRCA2 Regulates Transcription Elongation by RNA Polymerase II to Prevent R-Loop Accumulation
Cell Reports, 2018 The controlled release of RNA polymerase II (RNAPII) from promoter-proximal pausing (PPP) sites is critical for transcription elongation in metazoans. We show that the human tumor suppressor BRCA2 interacts with RNAPII to regulate PPP release, thereby ...
Xavier Renaudin, Ashok Venkitaraman
exaly +3 more sources
Genetic epidemiology of breast cancer in CYPRUS: A case -control study of DNA repair genes [PDF]
, 2009 This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel University.The occurrence of early-onset breast cancer (EOBC) has been associated with germline mutations in the BRCA1 and BRCA2 genes.
Loizidou, Maria, Liozidou, Maria
core +7 more sources
Bipolar Androgen Therapy as a Potential Mechanistic Bridge to Enhance PARP Inhibitor Efficacy in Prostate Cancer. [PDF]
Kaohsiung J Med SciABSTRACT Prostate cancer remains a leading cause of cancer‐related mortality, largely driven by progression to metastatic castration‐resistant prostate cancer (mCRPC). Although poly(ADP‐ribose) polymerase inhibitors (PARPis) have improved outcomes in patients with homologous recombination repair (HRR) alterations, particularly in BRCA2‐mutated disease,
Jhan JH +4 more
europepmc +2 more sources
Investigation of telomere maintenance in BRCA2 defective mammalian cell lines [PDF]
, 2014 This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel UniversityBRCA2 is a highly penetrant breast cancer predisposing gene.
Gozaly Chianea, Yaghoub
core +6 more sources
BRCA-mutated gastric adenocarcinomas are associated with chromosomal instability and responsiveness to platinum-based chemotherapy [PDF]
Journal of Pathology and Translational Medicine, 2023 Background Homologous recombination defect is an important biomarker of chemotherapy in certain tumor types, and the presence of pathogenic or likely pathogenic mutations involving BRCA1 or BRCA2 (p-BRCA) mutations is the most well-established marker for
Ji Hyun Oh +4 more
doaj +1 more source
Medicine, 2022 Breast cancer susceptibility gene 2 (BRCA2) is the main gene associated with hereditary breast cancers. However, a mutation in BRCA2 has also been found in other tumors, such as ovarian, pancreatic, thyroid, gastric, laryngeal, and prostate cancers. In this review, we discuss the biological functions of BRCA2 and the role of BRCA2 mutations in tumor ...
Chunbao Xie +5 more
openaire +2 more sources
BRCA1, BRCA2 and primary ovarian insufficiency [PDF]
E3S Web of Conferences, 2020 BRCA1 and BRCA2 genes belong to the family of ataxia-telangiectasia-mutated (ATM)-mediated DNA DSB repair genes that play a critical role in the DNA double-strand break (DSB) repair.
Zhang Yinuo
doaj +1 more source
BRCA2 and TP53 collaborate in tumorigenesis in zebrafish. [PDF]
PLoS ONE, 2014 Germline mutations in the tumor suppressor genes BRCA2 and TP53 significantly influence human cancer risk, and cancers from humans who inherit one mutant allele for BRCA2 or TP53 often display loss of the wildtype allele.
Heather R Shive +4 more
doaj +1 more source