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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency
Gastroenterology, Volume 147, No. 3, Year 2014
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Description
Little is known about the genetic factors that contribute to familial colorectal cancer type X (FCCX), characterized by hereditary nonpolyposis colorectal carcinoma with no mismatch repair defects. Genetic linkage analysis, exome sequencing, tumor studies, and functional investigations of 4 generations of a FCCX family led to the identification of a truncating germline mutation in RPS20, which encodes a component (S20) of the small ribosomal subunit and is a new colon cancer predisposition gene. The mutation was associated with a defect in pre-ribosomal RNA maturation. Our findings show that mutations in a gene encoding a ribosomal protein can predispose individuals to microsatellite-stable colon cancer. Evaluation of additional FCCX families for mutations in RPS20 and other ribosome-associated genes is warranted. © 2014 by the AGA Institute.
Authors & Co-Authors
Nieminen, Taina Tuulikki
Finland, Helsinki
Haartman Institute
O'Donohue, Marie Françoise
France, Toulouse
Université Toulouse Iii - Paul Sabatier
France, Paris
Cnrs Centre National de la Recherche Scientifique
Wu, Yunpeng
United States, Columbus
The Ohio State University
United States, Athens
Ou-hcom
Lohi, Hannes T.
Finland, Helsinki
Helsingin Yliopisto
Finland, Helsinki
Folkhälsan Institute of Genetics
Scherer, Stephen W.
Canada, Toronto
The Centre for Applied Genomics University of Toronto
Canada, Toronto
University of Toronto
Paterson, Andrew D.
Canada, Toronto
The Centre for Applied Genomics University of Toronto
Ellonen, Pekka
Finland, Helsinki
Helsingin Yliopisto
Abdel-Rahman, Wael M.
Finland, Helsinki
Haartman Institute
United Arab Emirates, Sharjah
University of Sharjah
Valo, Satu
Finland, Helsinki
Haartman Institute
Finland, Helsinki
Helsingin Yliopisto
Mecklin, Jukka Pekka
Finland, Jyvaskyla
Jyvaskyla Central Hospital
Finland, Kuopio
Itä-suomen Yliopisto
Järvinen, Heikki Juhani J.
Finland, Helsinki
Helsinki University Hospital
Gleizes, Pierre Emmanuel
France, Toulouse
Université Toulouse Iii - Paul Sabatier
France, Paris
Cnrs Centre National de la Recherche Scientifique
Peltomäki, Päivi T.
Finland, Helsinki
Haartman Institute
Statistics
Citations: 146
Authors: 13
Affiliations: 13
Identifiers
Doi:
10.1053/j.gastro.2014.06.009
ISSN:
00165085
e-ISSN:
15280012
Research Areas
Cancer
Genetics And Genomics