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Colorectal cancers show distinct mutation spectra in members of the canonical WNT signaling pathway according to their anatomical location and type of genetic instability by Cristina Albuquerque; Célia Baltazar; Bruno Filipe; Filipa Penha; Teresa Pereira; Ron Smits; Marília Cravo; Pedro Lage; Paulo Fidalgo; Isabel Claro; Paula Rodrigues; Isabel Veiga; José Silva Ramos; Isabel Fonseca; Carlos Nobre Leitão; Riccardo Fodde is a Medicine article available to read on EtoBox.

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## Abstract It is unclear whether the mutation spectra in WNT genes vary among distinct types of colorectal tumors. We have analyzed mutations in specific WNT genes in a cohort of 52 colorectal tumors and performed a meta‐analysis of previous studies. Notably, significant differences were found among the mutation spectra. We have previously shown that in familial adenomatous polyposis, __APC__ somatic mutations are selected to provide the “just‐right” level of WNT signaling for tumor formation. Here, we found that __APC__ mutations encompassing at least two β‐catenin down‐regulating motifs (20 a.a. repeats) are significantly more frequent in microsatellite unstable (MSI‐H) than in microsatellite stable (MSS) tumors where truncations retaining less than two repeats are more frequent (__P__ = 0.0009). Moreover, in cases where both __APC__ hits are detected, selection for mutations retaining a cumulative number of two 20 a.a. repeats became apparent in MSI‐H tumors (__P__ = 0.001). This type of mutations were also more frequent in proximal versus distal colonic tumors, regardless of MSI status (__P__ = 0.0008). Among MSI‐H tumors, __CTNNB1__ mutations were significantly more frequent

Who reads Colorectal cancers show distinct mutation spectra in members of the canonical WNT signaling pathway according to their anatomical location and type of genetic instability?

Author

Cristina Albuquerque; Célia Baltazar; Bruno Filipe; Filipa Penha; Teresa Pereira; Ron Smits; Marília Cravo; Pedro Lage; Paulo Fidalgo; Isabel Claro; Paula Rodrigues; Isabel Veiga; José Silva Ramos; Isabel Fonseca; Carlos Nobre Leitão; Riccardo Fodde

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 1045-2257)

Published

2010

Language

EN

Field

Medicine (Life Sciences)