Loss of Heterozygosity and Mutational Analyses of the ACTRII Gene Locus in Human Colorectal Tumors

Andreea Olaru, Yuriko Mori, Jing Yin, Suna Wang, Martha C. Kimos, Kellie Perry, Yan Xu, Fumiaki Sato, Florin M. Selaru, Elena Deacu, Anca Sterian, David Shibata, John M. Abraham, Stephen J. Meltzer

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


The activin type II receptor gene (ACTRII) is mutated in 58.1% of microsatellite-unstable (MSI-H) colorectal cancers and is a close relative of the TGFβ-1 type II receptor, which is known to be involved in both MSI-H and non-MSI-H colorectal carcinogenesis. We therefore sought to determine whether ACTRII was involved in non-MSI-H colorectal cancers. We evaluated ACTRII inactivation by allelic deletion, loss of mRNA expression, or somatic mutation in 51 non-MSI-H colon cancers. Loss of heterozygosity (LOH) at the ACTRII locus (2q23.1) was found in 9 (17.6%) of 51 primary tumors. Loss of ACTRII mRNA expression was seen in one (14.3%) of the seven LOH-positive primary tumors from which total RNA was available. We also performed DNA sequencing analysis of tumors showing LOH. One LOH-positive primary tumor exhibited a novel germline missense sequence alteration (amino acid substitution, 117 lie to Phe) that was not found in 23 additional normal individuals, implying that this alteration is not a frequent polymorphism. We conclude that ACTRII is probably involved in both non-MSI-H and MSI-H colorectal carcinogenesis, but more frequently in the latter subgroup.

Original languageEnglish (US)
Pages (from-to)1867-1871
Number of pages5
JournalLaboratory Investigation
Issue number12
StatePublished - Dec 2003
Externally publishedYes

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Biology
  • Cell Biology


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