caa a22 4500 445331038 CHVBK 20180317142737.0 cr unu---uuuuu 170323e20111201xx s 000 0 eng 10.1007/s10689-011-9468-4 doi (NATIONALLICENCE)springer-10.1007/s10689-011-9468-4 A survey of APC mutations in Quebec [Elektronische Daten] [Jonathan Jarry, Jean-Sébastien Brunet, Rachel Laframboise, Régen Drouin, Jean Latreille, Carole Richard, Jean Gekas, Bruno Maranda, Yury Monczak, Nora Wong, Carly Pouchet, Sonya Zaor, Lidia Kasprzak, Laura Palma, Mona Wu, Marc Tischkowitz, William Foulkes, George Chong] This is an 11-year survey of molecular analysis of APC germline mutations for the province of Quebec done at the Molecular Pathology Unit of the Jewish General Hospital which offers genetic testing for hereditary forms of colorectal cancer for the whole of Quebec province. We report on 47 unique mutations seen in 66 families affected with familial adenomatous polyposis. Of these unique mutations, 60% are short indels, 28% are point mutations, and 6% are whole exon deletions. The absence of founder mutations and the variety of mutations encountered reinforce the value of RNA-based testing and the need for gene dosage techniques such as multiplex ligation-dependent probe amplification. Springer Science+Business Media B.V., 2011 Adenomatous polyposis coli nationallicence Colorectal neoplasms nationallicence Familial adenomatous polyposis nationallicence Germ-line mutation nationallicence Multiplex ligation-dependent probe amplification nationallicence Quebec nationallicence Jarry Jonathan Molecular Pathology Unit, Department of Pathology, Jewish General Hospital, McGill University, Room D-112, 3755, chemin de la Cote-Ste-Catherine, H3T 1E2, Montreal, QC, Canada aut Brunet Jean-Sébastien Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, QC, Canada aut Laframboise Rachel Centre Hospitalier de l'Université Laval, Quebec, QC, Canada aut Drouin Régen Genetics Services, University of Sherbrooke, Sherbrooke, QC, Canada aut Latreille Jean Centre intégré de cancérologie de la Montérégie, Hôpital Charles LeMoyne, Longueuil, QC, Canada aut Richard Carole Department of Colorectal Surgery, Centre Hospitalier de l'Université de Montréal, Montreal, QC, Canada aut Gekas Jean Centre Hospitalier de l'Université Laval, Quebec, QC, Canada aut Maranda Bruno Centre Hospitalier de l'Université Laval, Quebec, QC, Canada aut Monczak Yury Molecular Pathology Unit, Department of Pathology, Jewish General Hospital, McGill University, Room D-112, 3755, chemin de la Cote-Ste-Catherine, H3T 1E2, Montreal, QC, Canada aut Wong Nora Department of Medical Genetics, Cancer Prevention Centre, Jewish General Hospital, Montreal, QC, Canada aut Pouchet Carly Department of Medical Genetics, Cancer Prevention Centre, Jewish General Hospital, Montreal, QC, Canada aut Zaor Sonya Department of Medical Genetics, Cancer Prevention Centre, Jewish General Hospital, Montreal, QC, Canada aut Kasprzak Lidia Department of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada aut Palma Laura Department of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada aut Wu Mona Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, QC, Canada aut Tischkowitz Marc Department of Medical Genetics, Cancer Prevention Centre, Jewish General Hospital, Montreal, QC, Canada aut Foulkes William Department of Medical Genetics, Cancer Prevention Centre, Jewish General Hospital, Montreal, QC, Canada aut Chong George Molecular Pathology Unit, Department of Pathology, Jewish General Hospital, McGill University, Room D-112, 3755, chemin de la Cote-Ste-Catherine, H3T 1E2, Montreal, QC, Canada aut Familial Cancer Springer Netherlands 10/4(2011-12-01), 659-665 1389-9600 10:4<659 2011 10 10689 https://doi.org/10.1007/s10689-011-9468-4 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10689-011-9468-4 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Jarry Jonathan Molecular Pathology Unit, Department of Pathology, Jewish General Hospital, McGill University, Room D-112, 3755, chemin de la Cote-Ste-Catherine, H3T 1E2, Montreal, QC, Canada aut NATIONALLICENCE 700 1- Brunet Jean-Sébastien Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, QC, Canada aut NATIONALLICENCE 700 1- Laframboise Rachel Centre Hospitalier de l'Université Laval, Quebec, QC, Canada aut NATIONALLICENCE 700 1- Drouin Régen Genetics Services, University of Sherbrooke, Sherbrooke, QC, Canada aut NATIONALLICENCE 700 1- Latreille Jean Centre intégré de cancérologie de la Montérégie, Hôpital Charles LeMoyne, Longueuil, QC, Canada aut NATIONALLICENCE 700 1- Richard Carole Department of Colorectal Surgery, Centre Hospitalier de l'Université de Montréal, Montreal, QC, Canada aut NATIONALLICENCE 700 1- Gekas Jean Centre Hospitalier de l'Université Laval, Quebec, QC, Canada aut NATIONALLICENCE 700 1- Maranda Bruno Centre Hospitalier de l'Université Laval, Quebec, QC, Canada aut NATIONALLICENCE 700 1- Monczak Yury Molecular Pathology Unit, Department of Pathology, Jewish General Hospital, McGill University, Room D-112, 3755, chemin de la Cote-Ste-Catherine, H3T 1E2, Montreal, QC, Canada aut NATIONALLICENCE 700 1- Wong Nora Department of Medical Genetics, Cancer Prevention Centre, Jewish General Hospital, Montreal, QC, Canada aut NATIONALLICENCE 700 1- Pouchet Carly Department of Medical Genetics, Cancer Prevention Centre, Jewish General Hospital, Montreal, QC, Canada aut NATIONALLICENCE 700 1- Zaor Sonya Department of Medical Genetics, Cancer Prevention Centre, Jewish General Hospital, Montreal, QC, Canada aut NATIONALLICENCE 700 1- Kasprzak Lidia Department of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada aut NATIONALLICENCE 700 1- Palma Laura Department of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada aut NATIONALLICENCE 700 1- Wu Mona Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, QC, Canada aut NATIONALLICENCE 700 1- Tischkowitz Marc Department of Medical Genetics, Cancer Prevention Centre, Jewish General Hospital, Montreal, QC, Canada aut NATIONALLICENCE 700 1- Foulkes William Department of Medical Genetics, Cancer Prevention Centre, Jewish General Hospital, Montreal, QC, Canada aut NATIONALLICENCE 700 1- Chong George Molecular Pathology Unit, Department of Pathology, Jewish General Hospital, McGill University, Room D-112, 3755, chemin de la Cote-Ste-Catherine, H3T 1E2, Montreal, QC, Canada aut NATIONALLICENCE 773 0- Familial Cancer Springer Netherlands 10/4(2011-12-01), 659-665 1389-9600 10:4<659 2011 10 10689 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer