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A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype

Authors

  • Lili Li Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, CanadaDepartment of Human Genetics, McGill University, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Nancy Hamel Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, CanadaDepartment of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Kristi Baker Department of Pathology, McGill University, Montreal, Quebec, CanadaGastroenterology Division, Brigham and Women's Hospital, Boston, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Michael J McGuffin Department of Software and Information Technology Engineering, École de technologie supérieure, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Martin Couillard Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, CanadaLady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Adrian Gologan Department of Pathology, Jewish General Hospital, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Victoria A Marcus Department of Pathology, McGill University Health Centre, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Bernard Chodirker Department of Pediatrics and Child Health and Department of Biochemistry and Medical Genetics, Winnipeg, Manitoba, Canada PubMed articlesGoogle scholar articles
  • Albert Chudley Department of Pediatrics and Child Health and Department of Biochemistry and Medical Genetics, Winnipeg, Manitoba, Canada PubMed articlesGoogle scholar articles
  • Camelia Stefanovici Department of Pathology, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada PubMed articlesGoogle scholar articles
  • Anne Durandy INSERM U768, Hôpital Necker, Paris, France PubMed articlesGoogle scholar articles
  • Robert A Hegele Robarts Research Institute and Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada PubMed articlesGoogle scholar articles
  • Bing-Jian Feng Department of Dermatology, University of Utah Health Sciences Center, Salt Lake City, Utah, USA PubMed articlesGoogle scholar articles
  • David E Goldgar Department of Dermatology, University of Utah Health Sciences Center, Salt Lake City, Utah, USA PubMed articlesGoogle scholar articles
  • Jun Zhu Systems Biology Center, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Marina De Rosa Department of Molecular Medicine and Medical Biotechnology and CEINGE Biotechnologie Avanzate, University of Naples—Federico II, Naples, Italy PubMed articlesGoogle scholar articles
  • Stephen B Gruber USC Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, California, USA PubMed articlesGoogle scholar articles
  • Katharina Wimmer Division Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University Innsbruck, Innsbruck, Austria PubMed articlesGoogle scholar articles
  • Barbara Young Department of Medicine, McGill University Health Centre, Montreal, Quebec, CanadaFirst Nations and Inuit Health Branch, Health Canada (Quebec Region), Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  • George Chong Department of Human Genetics, McGill University, Montreal, Quebec, CanadaDepartment of Pathology, Jewish General Hospital, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Marc D Tischkowitz Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, CanadaDepartment of Human Genetics, McGill University, Montreal, Quebec, CanadaLady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, CanadaDepartment of Medical Genetics, University of Cambridge, Cambridge, UK PubMed articlesGoogle scholar articles
  • William D Foulkes Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, CanadaDepartment of Human Genetics, McGill University, Montreal, Quebec, CanadaDepartment of Medical Genetics, McGill University Health Centre, Montreal, Quebec, CanadaLady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  1. Correspondence to Dr William D Foulkes, Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, 3755 Cote Ste Catherine Road, Montreal, QC, Canada H3T 1E2; william.foulkes{at}mcgill.ca
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Citation

Li L, Hamel N, Baker K, et al
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype

Publication history

  • Received 4 December 2014
  • Revised 23 January 2015
  • Accepted 27 January 2015
  • Published online 17 February 2015.

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