Microsatellite instability and mutations of the transforming growth factor β type II receptor gene in colorectal cancer

R Parsons, LL Myeroff, B Liu, JKV Willson… - Cancer research, 1995 - AACR
R Parsons, LL Myeroff, B Liu, JKV Willson, SD Markowitz, KW Kinzler, B Vogelstein
Cancer research, 1995AACR
The TGFβ type II receptor (RII) was found to be mutated within a polyadenine tract in 100 of
111 (90%) colorectal cancers with microsatellite instability. Other polyadenine tracts of
similar length were mutated in these samples but not as frequently as RII. In most cases, the
polyadenine tract mutations affected both alleles of RII, and in four tumors heterozygous for
the polyadenine mutations, three had additional mutations that were expected to inactivate
the other RII allele. These genetic data support the idea that RII behaves like a tumor …
Abstract
The TGFβ type II receptor (RII) was found to be mutated within a polyadenine tract in 100 of 111 (90%) colorectal cancers with microsatellite instability. Other polyadenine tracts of similar length were mutated in these samples but not as frequently as RII. In most cases, the polyadenine tract mutations affected both alleles of RII, and in four tumors heterozygous for the polyadenine mutations, three had additional mutations that were expected to inactivate the other RII allele. These genetic data support the idea that RII behaves like a tumor suppressor during CR cancer development and is a critical target of inactivation in mismatch repair-deficient tumors.
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