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Somatic frameshift mutations of bone morphogenic protein receptor 2 gene in gastric and colorectal cancers with

Sang Wook Park1, Soo Young Hur, Nam Jin Yoo

  • 1Departments of Pathology Obstetrics/Gynecology, College of Medicine, The Catholic University of Korea, Seoul, Korea.

APMIS : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica
|October 20, 2010
PubMed

Insights

Bone morphogenic protein receptor 2 (BMPR2) gene mutations were found in gastric and colorectal cancers with microsatellite instability. These BMPR2 mutations may contribute to cancer development by disrupting BMP signaling.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Bone morphogenic protein (BMP) signaling is implicated in cancer development, particularly gastrointestinal cancers.
  • Somatic mutations in BMP and BMP receptor genes have not been identified in human cancer tissues.
  • Mononucleotide repeats in BMP receptor 2 (BMPR2) and BMP1 genes are potential mutation sites in cancers with microsatellite instability (MSI).

Purpose of the Study:

  • To investigate the mutation status of BMPR2 and BMP1 genes in gastric cancer (GC) and colorectal cancer (CRC) with MSI.
  • To determine if BMPR2 mutations contribute to the pathogenesis of GC and CRC with MSI.

Main Methods:

  • Analysis of BMPR2 and BMP1 gene mutations in 31 GC with high MSI (MSI-H), 13 GC with low MSI (MSI-L), 38 CRC with MSI-H, and 15 CRC with MSI-L.
  • Utilized single-strand conformation polymorphism analysis and DNA sequencing.
  • Assessed BMPR2 expression in tumors with identified mutations.

Main Results:

  • Seven frameshift mutations were identified in the BMPR2 gene, specifically an identical deletion mutation (c.1748delA) leading to premature stop codons.
  • BMPR2 mutations were found in 6.5% of GC-MSI-H and 13.2% of CRC-MSI-H.
  • All tumors harboring BMPR2 mutations exhibited a loss of BMPR2 expression.

Conclusions:

  • Frameshift mutations in the BMPR2 gene occur in gastric and colorectal cancers with MSI-H.
  • BMPR2 gene mutations may play a role in cancer pathogenesis by inactivating BMPR2-mediated BMP signaling.
  • Further research is warranted to elucidate the precise role of BMPR2 mutations in gastrointestinal cancer development.

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