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Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11.
Baert, Annelot; Machackova, Eva; Coene, Ilse; Cremin, Carol; Turner, Kristin; Portigal-Todd, Cheryl; Asrat, Marie Jill; Nuk, Jennifer; Mindlin, Allison; Young, Sean; MacMillan, Andree; Van Maerken, Tom; Trbusek, Martin; McKinnon, Wendy; Wood, Marie E; Foulkes, William D; Santamariña, Marta; de la Hoya, Miguel; Foretova, Lenka; Poppe, Bruce; Vral, Anne; Rosseel, Toon; De Leeneer, Kim; Vega, Ana; Claes, Kathleen B M.
Affiliation
  • Baert A; Department of Basic Medical Sciences, Ghent University, Ghent, Belgium.
  • Machackova E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Coene I; Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic.
  • Cremin C; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Turner K; BC Cancer Agency, Vancouver, British Columbia, Canada.
  • Portigal-Todd C; BC Cancer Agency, Vancouver, British Columbia, Canada.
  • Asrat MJ; BC Cancer Agency, Vancouver, British Columbia, Canada.
  • Nuk J; BC Cancer Agency, Vancouver, British Columbia, Canada.
  • Mindlin A; BC Cancer Agency, Vancouver, British Columbia, Canada.
  • Young S; BC Cancer Agency, Vancouver, British Columbia, Canada.
  • MacMillan A; BC Cancer Agency, Vancouver, British Columbia, Canada.
  • Van Maerken T; Cancer Genetics and Genomics Laboratory, Department of Pathology and Laboratory Medicine, BC Cancer Agency, Vancouver, British Columbia, Canada.
  • Trbusek M; Provincial Medical Genetics Program, Eastern Health, St. John's, Newfoundland and Labrador, Canada.
  • McKinnon W; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Wood ME; Department of Internal Medicine - Hematology and Oncology, University Hospital Brno, Brno, Czech Republic.
  • Foulkes WD; Familial Cancer Program, University of Vermont Medical Center, Burlington, Vermont, United States.
  • Santamariña M; Familial Cancer Program, University of Vermont Medical Center, Burlington, Vermont, United States.
  • de la Hoya M; Cancer Research Program, Research Institute of the McGill University Health Centre, McGill University, Montreal, Quebec, Canada.
  • Foretova L; Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica, CIBERER, IDIS, Santiago de Compostela, Spain.
  • Poppe B; Molecular Oncology Laboratory CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
  • Vral A; Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic.
  • Rosseel T; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • De Leeneer K; Department of Basic Medical Sciences, Ghent University, Ghent, Belgium.
  • Vega A; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Claes KBM; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Hum Mutat ; 39(4): 515-526, 2018 04.
Article in En | MEDLINE | ID: mdl-29280214
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Full text: 1 Database: MEDLINE Main subject: Ovarian Neoplasms / Breast Neoplasms / Alternative Splicing / Genes, BRCA1 / RNA Splice Sites / Genes, BRCA2 Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans Language: En Year: 2018 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Ovarian Neoplasms / Breast Neoplasms / Alternative Splicing / Genes, BRCA1 / RNA Splice Sites / Genes, BRCA2 Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans Language: En Year: 2018 Type: Article