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Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome.
Hansen, Maren F; Johansen, Jostein; Sylvander, Anna E; Bjørnevoll, Inga; Talseth-Palmer, Bente A; Lavik, Liss A S; Xavier, Alexandre; Engebretsen, Lars F; Scott, Rodney J; Drabløs, Finn; Sjursen, Wenche.
Afiliación
  • Hansen MF; Department of Laboratory Medicine, Children's and Women's Health, Norwegian University of Science and Technology (NTNU), Trondheim, Norway.
  • Johansen J; Department of Pathology and Medical Genetics, St. Olavs University Hospital, Trondheim, Norway.
  • Sylvander AE; Department of Cancer Research and Molecular Medicine, Norwegian University of Science and Technology (NTNU), Trondheim, Norway.
  • Bjørnevoll I; Department of Pathology and Medical Genetics, St. Olavs University Hospital, Trondheim, Norway.
  • Talseth-Palmer BA; Department of Pathology and Medical Genetics, St. Olavs University Hospital, Trondheim, Norway.
  • Lavik LAS; Department of Laboratory Medicine, Children's and Women's Health, Norwegian University of Science and Technology (NTNU), Trondheim, Norway.
  • Xavier A; School of Biomedical Science and Pharmacy, University of Newcastle and Hunter Medical Research Institute, Newcastle, Australia.
  • Engebretsen LF; Clinic for Medicine, Møre and Romsdal Hospital Trust, Molde, Norway.
  • Scott RJ; Department of Pathology and Medical Genetics, St. Olavs University Hospital, Trondheim, Norway.
  • Drabløs F; School of Biomedical Science and Pharmacy, University of Newcastle and Hunter Medical Research Institute, Newcastle, Australia.
  • Sjursen W; Department of Pathology and Medical Genetics, St. Olavs University Hospital, Trondheim, Norway.
Clin Genet ; 92(4): 405-414, 2017 Oct.
Article en En | MEDLINE | ID: mdl-28195393
BACKGROUND: Many families with a high burden of colorectal cancer fulfil the clinical criteria for Lynch Syndrome. However, in about half of these families, no germline mutation in the mismatch repair genes known to be associated with this disease can be identified. The aim of this study was to find the genetic cause for the increased colorectal cancer risk in these unsolved cases. MATERIALS AND METHODS: To reach the aim, we designed a gene panel targeting 112 previously known or candidate colorectal cancer susceptibility genes to screen 274 patient samples for mutations. Mutations were validated by Sanger sequencing and, where possible, segregation analysis was performed. RESULTS: We identified 73 interesting variants, of whom 17 were pathogenic and 19 were variants of unknown clinical significance in well-established cancer susceptibility genes. In addition, 37 potentially pathogenic variants in candidate colorectal cancer susceptibility genes were detected. CONCLUSION: In conclusion, we found a promising DNA variant in more than 25 % of the patients, which shows that gene panel testing is a more effective method to identify germline variants in CRC patients compared to a single gene approach.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Colorrectales / Neoplasias Colorrectales Hereditarias sin Poliposis / Predisposición Genética a la Enfermedad / Proteínas de Neoplasias Tipo de estudio: Prognostic_studies Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Clin Genet Año: 2017 Tipo del documento: Article País de afiliación: Noruega Pais de publicación: Dinamarca
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Colorrectales / Neoplasias Colorrectales Hereditarias sin Poliposis / Predisposición Genética a la Enfermedad / Proteínas de Neoplasias Tipo de estudio: Prognostic_studies Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Clin Genet Año: 2017 Tipo del documento: Article País de afiliación: Noruega Pais de publicación: Dinamarca