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A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.
Drost, Mark; Tiersma, Yvonne; Thompson, Bryony A; Frederiksen, Jane H; Keijzers, Guido; Glubb, Dylan; Kathe, Scott; Osinga, Jan; Westers, Helga; Pappas, Lisa; Boucher, Kenneth M; Molenkamp, Siska; Zonneveld, José B; van Asperen, Christi J; Goldgar, David E; Wallace, Susan S; Sijmons, Rolf H; Spurdle, Amanda B; Rasmussen, Lene J; Greenblatt, Marc S; de Wind, Niels; Tavtigian, Sean V.
Affiliation
  • Drost M; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Tiersma Y; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Thompson BA; Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Frederiksen JH; Centre for Epidemiology and Biostatistics, School of Population and Global Health, University of Melbourne, Melbourne, Australia.
  • Keijzers G; Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
  • Glubb D; Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
  • Kathe S; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
  • Osinga J; Department of Microbiology and Molecular Genetics, University of Vermont Robert Larner, M.D. College of Medicine, Burlington, VT, USA.
  • Westers H; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Pappas L; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Boucher KM; Department of Medicine, Division of Epidemiology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Molenkamp S; Department of Medicine, Division of Epidemiology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Zonneveld JB; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • van Asperen CJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Goldgar DE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Wallace SS; Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Sijmons RH; Department of Microbiology and Molecular Genetics, University of Vermont Robert Larner, M.D. College of Medicine, Burlington, VT, USA.
  • Spurdle AB; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Rasmussen LJ; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
  • Greenblatt MS; Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark. lenera@sund.ku.dk.
  • de Wind N; Department of Medicine and University of Vermont Cancer Center, University of Vermont Robert Larner, M.D. College of Medicine, Burlington, VT, USA. Marc.Greenblatt@uvmhealth.org.
  • Tavtigian SV; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. N.de_Wind@lumc.nl.
Genet Med ; 21(7): 1486-1496, 2019 07.
Article in En | MEDLINE | ID: mdl-30504929
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Colorectal Neoplasms, Hereditary Nonpolyposis / Genetic Techniques / DNA Mismatch Repair Type of study: Diagnostic_studies / Evaluation_studies / Prognostic_studies Limits: Animals / Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Colorectal Neoplasms, Hereditary Nonpolyposis / Genetic Techniques / DNA Mismatch Repair Type of study: Diagnostic_studies / Evaluation_studies / Prognostic_studies Limits: Animals / Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Country of publication: