Lack of evidence for germline RNF43 mutations in patients with serrated polyposis syndrome from a large multinational study

Daniel D Buchanan^{1

2}, Mark Clendenning¹, Li Zhuoer¹, Jenna R Stewart¹, Sharelle Joseland², Sonja Woodall³, Julie Arnold³, Kara Semotiuk⁴, Melyssa Aronson⁴, Spring Holter⁴, Steven Gallinger⁵, Mark A Jenkins², Kevin Sweet⁶, Finlay A Macrae^{7

8

9}, Ingrid M Winship^{7

8}, Susan Parry³, Christophe Rosty^{1

10

11}; Genetics of Colonic Polyposis Study

Affiliations

¹ Colorectal Oncogenomics Group, Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Parkville, Victoria, Australia.
² Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia.
³ New Zealand Familial Gastrointestinal Cancer Service, Auckland, New Zealand.
⁴ Zane Cohen Centre for Digestive Diseases, Familial Gastrointestinal Cancer Registry, Mt Sinai Hospital, Toronto, Ontario, Canada.
⁵ Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
⁶ Division of Human Genetics, Ohio State University Medical Centre, Columbus, Ohio, USA.
⁷ Department of Medicine, The University of Melbourne, Parkville, Victoria, Australia.
⁸ Genetic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Australia.
⁹ Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Parkville, Victoria, Australia.
¹⁰ Envoi Specialist Pathologists, Herston, Queensland, Australia.
¹¹ School of Medicine, The University of Queensland, Herston, Queensland, Australia.

Comment

Daniel D Buchanan et al. Gut. 2017 Jun.

. 2017 Jun;66(6):1170-1172.

doi: 10.1136/gutjnl-2016-312773. Epub 2016 Aug 31.

¹ Colorectal Oncogenomics Group, Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Parkville, Victoria, Australia.
² Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia.
³ New Zealand Familial Gastrointestinal Cancer Service, Auckland, New Zealand.
⁴ Zane Cohen Centre for Digestive Diseases, Familial Gastrointestinal Cancer Registry, Mt Sinai Hospital, Toronto, Ontario, Canada.
⁵ Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
⁶ Division of Human Genetics, Ohio State University Medical Centre, Columbus, Ohio, USA.
⁷ Department of Medicine, The University of Melbourne, Parkville, Victoria, Australia.
⁸ Genetic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, Australia.
⁹ Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Parkville, Victoria, Australia.
¹⁰ Envoi Specialist Pathologists, Herston, Queensland, Australia.
¹¹ School of Medicine, The University of Queensland, Herston, Queensland, Australia.

No abstract available

Keywords: COLON CARCINOGENESIS; COLONIC POLYPS; COLORECTAL CANCER GENES; GENE MUTATION; POLYPOSIS.

Comment on

RNF43 germline and somatic mutation in serrated neoplasia pathway and its association with BRAF mutation.
Yan HHN, Lai JCW, Ho SL, Leung WK, Law WL, Lee JFY, Chan AKW, Tsui WY, Chan ASY, Lee BCH, Yue SSK, Man AHY, Clevers H, Yuen ST, Leung SY. Yan HHN, et al. Gut. 2017 Sep;66(9):1645-1656. doi: 10.1136/gutjnl-2016-311849. Epub 2016 Jun 21. Gut. 2017. PMID: 27329244