دورية أكاديمية
أعرض في EDS

BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.

التفاصيل البيبلوغرافية
العنوان: BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.
المؤلفون: Burke LJ; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia., Sevcik J; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia.; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic., Gambino G; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia.; Section of Molecular Genetics, Department of Laboratory Medicine, University Hospital of Pisa, Pisa, Italy., Tudini E; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia.; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia., Mucaki EJ; University of Western Ontario, Department of Biochemistry, Schulich School of Medicine and Dentistry, London, Ontario, Canada., Shirley BC; CytoGnomix Inc., London, Ontario, Canada., Whiley P; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia.; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia., Parsons MT; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia., De Leeneer K; Center for Medical Genetics, Ghent University Hospital, and Cancer Research Institute Ghent (CRIG), Ghent University, Ghent, Belgium., Gutiérrez-Enríquez S; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain., Santamariña M; Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain., Caputo SM; Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris, France., Santana Dos Santos E; Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris, France.; Department of oncology, Center for Translational Oncology, Cancer Institute of the State of São Paulo - ICESP, São Paulo, Brazil.; A.C.Camargo Cancer Center, São Paulo, Brazil., Soukupova J; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic., Janatova M; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic., Zemankova P; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic., Lhotova K; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic., Stolarova L; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic., Borecka M; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic., Moles-Fernández A; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain., Manoukian S; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy., Bonanni B; Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy., Edwards SL; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia., Blok MJ; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., van Overeem Hansen T; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Rossing M; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Diez O; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.; Area of Clinical and Molecular Genetics, University Hospital Vall d'Hebron (UHVH), Barcelona, Spain., Vega A; Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain., Claes KBM; Center for Medical Genetics, Ghent University Hospital, and Cancer Research Institute Ghent (CRIG), Ghent University, Ghent, Belgium., Goldgar DE; Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah., Rouleau E; Gustave Roussy, Villejuif, France., Radice P; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy., Peterlongo P; IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy., Rogan PK; University of Western Ontario, Department of Biochemistry, Schulich School of Medicine and Dentistry, London, Ontario, Canada.; CytoGnomix Inc., London, Ontario, Canada., Caligo M; Section of Molecular Genetics, Department of Laboratory Medicine, University Hospital of Pisa, Pisa, Italy., Spurdle AB; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia., Brown MA; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia.
مؤلفون مشاركون: ENIGMA Consortium; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia.
المصدر: Human mutation [Hum Mutat] 2018 Dec; Vol. 39 (12), pp. 2025-2039. Date of Electronic Publication: 2018 Sep 24.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
أسماء مطبوعة: Original Publication: New York : Wiley-Liss, c1992-
مواضيع طبية MeSH: Germ-Line Mutation* , Promoter Regions, Genetic*, BRCA1 Protein/*genetics , BRCA2 Protein/*genetics , Breast Neoplasms/*genetics, 5' Untranslated Regions ; Age of Onset ; BRCA1 Protein/chemistry ; BRCA1 Protein/metabolism ; BRCA2 Protein/chemistry ; BRCA2 Protein/metabolism ; CCAAT-Binding Factor/metabolism ; Cell Line, Tumor ; Female ; Genetic Predisposition to Disease ; Humans ; MCF-7 Cells ; PAX5 Transcription Factor/metabolism ; Protein Binding
مستخلص: The widespread use of next generation sequencing for clinical testing is detecting an escalating number of variants in noncoding regions of the genome. The clinical significance of the majority of these variants is currently unknown, which presents a significant clinical challenge. We have screened over 6,000 early-onset and/or familial breast cancer (BC) cases collected by the ENIGMA consortium for sequence variants in the 5' noncoding regions of BC susceptibility genes BRCA1 and BRCA2, and identified 141 rare variants with global minor allele frequency < 0.01, 76 of which have not been reported previously. Bioinformatic analysis identified a set of 21 variants most likely to impact transcriptional regulation, and luciferase reporter assays detected altered promoter activity for four of these variants. Electrophoretic mobility shift assays demonstrated that three of these altered the binding of proteins to the respective BRCA1 or BRCA2 promoter regions, including NFYA binding to BRCA1:c.-287C>T and PAX5 binding to BRCA2:c.-296C>T. Clinical classification of variants affecting promoter activity, using existing prediction models, found no evidence to suggest that these variants confer a high risk of disease. Further studies are required to determine if such variation may be associated with a moderate or low risk of BC.
(© 2018 The Authors. Human Mutation published by Wiley Periodicals, Inc.)
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فهرسة مساهمة: Keywords: BRCA1; BRCA2; breast cancer; promoter; transcription; variants of unknown clinical significance (VUS)
المشرفين على المادة: 0 (5' Untranslated Regions)
0 (BRCA1 Protein)
0 (BRCA1 protein, human)
0 (BRCA2 Protein)
0 (BRCA2 protein, human)
0 (CCAAT-Binding Factor)
0 (NFYA protein, human)
0 (PAX5 Transcription Factor)
0 (PAX5 protein, human)
SCR Disease Name: Breast Cancer, Familial
تواريخ الأحداث: Date Created: 20180912 Date Completed: 20191007 Latest Revision: 20231004
رمز التحديث: 20231004
مُعرف محوري في PubMed: PMC6282814
DOI: 10.1002/humu.23652
PMID: 30204945
قاعدة البيانات: MEDLINE
الوصف
تدمد:1098-1004
DOI:10.1002/humu.23652