BRCA1 gene
Detection of a novel mutation in exon 20 of the BRCA1 gene
... We analyzed the samples sequenced with both the forward and reverse primers and identified a novel mutation, A5237C, in codon 1746 (Fig. 1), which is located in exon 20 of the BRCA1 gene. The sample was ...
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Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer
... This risk haplotype is a subset of the wild-type haplotype, and no coding or potential splice-site SNPs in the NIEHS Environmental Genome Project database are in LD with the SNP defining this haplotype. It should be ...
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Mutations analysis of BRCA1 gene in patients with breast cancer in South Khorasan province, East Iran
... the BRCA1 gene is regulation stem cells in breast tissue, in BRCA1 damaged cells this regulatory function fails and these cells lose their tight proliferative ...BRCA gene with some marker of ...
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Original Article Prevalence of BRCA1 gene mutation in breast cancer patients in Guangxi, China
... susceptibility gene 1 mutation in breast cancer patients of south China has not been well ...of BRCA1 gene mutation in breast cancer patients in Guangxi, China, and to try reflecting its relevance in ...
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Investigating of variations in BRCA1 gene in Iranian families with breast cancer
... This table shows location of found variants in BRCA1 gene, sequence variants names based on HGVS nomenclature. Mutation Taster detected found VUSs as polymor- phisms but CGI website described them as ...
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Selected Aspects of Molecular Diagnostics of Constitutional Alterations in BRCA1 and BRCA2 Genes Associated with Increased Risk of Breast Cancer in the Polish Population
... within BRCA1 and BRCA2 were identified. Also, BRCA1 gene polymorphisms localized within promoter exons 11, 13 and 16 and introns 9 and 18 showed complete ...the BRCA1 gene covering ...
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Platinum-based neoadjuvant chemotherapy in BRCA1-positive breast cancer: a retrospective cohort analysis and literature review
... Our findings from the retrospective evaluation at the breast unit of PSCUH suggested that platinum-based neo- adjuvant chemotherapy was highly effective in breast can- cer patients with BRCA1 gene ...
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Selected aspects of genetic counselling for BRCA1 mutation carriers
... of BRCA1 and BRCA2 mutations became a common diagnostic tool to identify persons with high risk of these ...in BRCA1 or BRCA2 carriers the risk of breast cancer reaches up to 80%, and of ovarian cancer 40% ...
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Gene Expression Profiling in Hereditary, BRCA1-linked Breast Cancer: Preliminary Report
... the BRCA1 gene and seven samples of sporadic breast ...common BRCA1 mutations in Poland were excluded by genetic ...all BRCA1 and BRCA2 mutations found in Polish families with a strong ...
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The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services
... the BRCA1 gene and subsequently undergo risk reducing mastectomy (RRM), and a pre-release of the NICE guidelines on familial breast cancer in January and their final release on 26 th ...
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Epigenetic silencing and deletion of the BRCA1gene in sporadic breast cancer
... BRCA gene mutations have not been found in sporadic breast tumours ...for BRCA1 inactivation has been suggested to be gene silencing by epi- genetic ...the BRCA1 promoter in sporadic breast ...
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Thymidylate synthase gene (TYMS) polymorphisms in sporadic and hereditary breast cancer
... Recently, the association of polymorphisms in some genes has been demonstrated as a possible etiologic factor of neoplasia and response to chemotherapy [8]. Molecular markers related to BC have been described as risk ...
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Promoter hypermethylation in male breast cancer: analysis by multiplex ligation dependent probe amplification
... ESR1, BRCA1 and BRCA2. BRCA1 and BRCA2 promoter hypermethylation was encountered in, respectively, 2% and 18% of the male breast cancers, but was seen in 18% and 64% of the female breast cancers, using the ...
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Constructing narratives of heroism and villainy: case study of Myriad's BRACAnalysis® compared to Genentech's Herceptin®
... exclusive gene patents of the BRCA1 and BRCA2 genes held by Myriad Laboratories have had a detrimental impact on the community we serve ’ ...Myriad’s gene patents, but an important point to make is ...
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COMPUTATIONAL ANALYSIS OF MUTATIONS IN REALLY INTERESTING NEW GENE FINGER DOMAIN AND BRCA1 C TERMINUS DOMAIN OF BREAST CANCER SUSCEPTIBILITY GENE
... on BRCA1 domains with suitable experimental validation in near future will aid in understanding the effect of individual drug response, for rapid diagnosis, prognosis, and treatment of ...
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No germline mutations in the histone acetyltransferase gene EP300 in BRCA1 and BRCA2 negative families with breast cancer and gastric, pancreatic, or colorectal cancer
... EP300 gene is located at the centre of a region of fre- quent loss of heterozygosity in breast and ovarian cancer, and has recently been implicated as a tumour suppressor gene by the identification of ...
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Molecular insights into the OGG1 gene, a cancer risk modifier in BRCA1 and BRCA2 mutations carriers
... These results were experimentally validated in our LCL set by measuring TL after 55 passages. We could confirm a significant faster telomere shortening in the group of samples harboring a BRCA1 mutation together ...
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Variation in the RAD51 gene and familial breast cancer
... We did not detect any coding region variation in the RAD51 gene using the highly sensitive mutation detection technique DHPLC. A number of intronic variants were found. All variants, however, were either present ...
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Distinct implications of different BRCA mutations: efficacy of cytotoxic chemotherapy, PARP inhibition and clinical outcome in ovarian cancer
... of BRCA1- and BRCA2-associated OCs, both from one another and from BRCA wild-type ...conducting gene- specific ...to BRCA1-associated OC, and emerging data suggest that superior PFS and platinum ...
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TETRA PRIMER ARMS PCR DETECTED A MISSENSE MUTATION OF BRCA1 AND BRCA2 IN BREAST CANCER PATIENTS IN JEDDAH CONTROL STUDY
... Previous studies in Saudi Arabia indicate that the genes of BRCA1 and BRCA2 mutations have minimal impact on the genetic susceptibility of breast cancer among the Arab population (Denic and Al-Gazali, 2003). ...
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