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Familial Cancer
Published in: Familial Cancer 4/2011

01-12-2011

A survey of APC mutations in Quebec

Authors: 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 Kay Wu, Marc Tischkowitz, William D. Foulkes, George Chong

Published in: Familial Cancer | Issue 4/2011

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Abstract

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.
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Metadata
Title
A survey of APC mutations in Quebec
Authors
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 Kay Wu
Marc Tischkowitz
William D. Foulkes
George Chong
Publication date
01-12-2011
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 4/2011
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-011-9468-4

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