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  • Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort

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Gastroenterology and hepatology
Research
Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort

Authors

  • Christophe Rosty Envoi Pathology, Brisbane, Queensland, Australia The School of Medicine, The University of Queensland, Brisbane, Queensland, Australia Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Mark Clendenning Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Michael D Walsh Department of Histopathology, Sullivan Nicolaides Pathology, Brisbane, Queensland, Australia PubMed articlesGoogle scholar articles
  • Stine V Eriksen Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Melissa C Southey Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Ingrid M Winship Department of Medicine, The University of Melbourne, Parkville, Victoria, Australia Genetic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Finlay A Macrae Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Alex Boussioutas Department of Medicine, Royal Melbourne Hospital, The University of Melbourne, Parkville, Victoria, Australia Cancer Genomics and Predictive Medicine, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Nicola K Poplawski South Australian Clinical Genetics Service, SA Pathology at the WCH, North Adelaide, South Australia, Australia University Department of Paediatrics, University of Adelaide, Adelaide, South Australia, Australia PubMed articlesGoogle scholar articles
  • Susan Parry New Zealand Familial Gastrointestinal Cancer Registry, Auckland City Hospital, Auckland, New Zealand Department of Gastroenterology, Middlemore Hospital, Auckland, New Zealand PubMed articlesGoogle scholar articles
  • Julie Arnold Department of Gastroenterology, Middlemore Hospital, Auckland, New Zealand PubMed articlesGoogle scholar articles
  • Joanne P Young Department of Haematology and Oncology, The Queen Elizabeth Hospital, Woodville, South Australia, Australia School of Medicine, University of Adelaide, Adelaide, South Australia, Australia SAHMRI Colorectal Node, Basil Hetzel Institute for Translational Research, Woodville, South Australia, Australia PubMed articlesGoogle scholar articles
  • Graham Casey Department of Preventive Medicine, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, California, USA PubMed articlesGoogle scholar articles
  • Robert W Haile Department of Medicine, Division of Oncology, Stanford Cancer Institute, Stanford University, Stanford, California, USA PubMed articlesGoogle scholar articles
  • Steven Gallinger Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Loïc Le Marchand University of Hawaii Cancer Center, Honolulu, Hawaii, USA PubMed articlesGoogle scholar articles
  • Polly A Newcomb Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA School of Public Health, University of Washington, Seattle, Washington, USA PubMed articlesGoogle scholar articles
  • John D Potter Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA School of Public Health, University of Washington, Seattle, Washington, USA Centre for Public Health Research, Massey University, Wellington, New Zealand PubMed articlesGoogle scholar articles
  • Melissa DeRycke Departments of Health Sciences Research, Biomedical Statistics and Informatics, Laboratory Medicine and Pathology, Medical Genetics, Medical Genomics Technology and Advanced Genomics Technology Center, Mayo Clinic College of Medicine, Rochester, Minnesota, USA PubMed articlesGoogle scholar articles
  • Noralane M Lindor Department of Health Science Research, Mayo Clinic Arizona, Scottsdale, Arizona, USA PubMed articlesGoogle scholar articles
  • Stephen N Thibodeau Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA PubMed articlesGoogle scholar articles
  • John A Baron Department of Medicine, University of North Carolina, Chapel Hill, North Carolina, USA PubMed articlesGoogle scholar articles
  • Aung Ko Win Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • John L Hopper Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Mark A Jenkins Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  • Daniel D Buchanan Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Parkville, Victoria, Australia Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Christophe Rosty; c.rosty{at}uq.edu.au
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Citation

Rosty C, Clendenning M, Walsh MD on behalf of the Colon Cancer Family Registry Cohort, et al
Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort
BMJ Open 2016;6:e010293. doi: 10.1136/bmjopen-2015-010293

Publication history

  • Received October 20, 2015
  • Revised January 12, 2016
  • Accepted January 29, 2016
  • First published February 19, 2016.
Online issue publication 
December 04, 2017
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  • Supplementary Data

    This web only file has been produced by the BMJ Publishing Group from an electronic file supplied by the author(s) and has not been edited for content.

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Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/ This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/