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Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
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Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 19, 2013

Interstitial deletions including chromosome 3 common eliminated region 1 (C3CER1) prevail in human solid tumors from

Thorgunnur Eyfjord Petursdottir1, Unnur Thorsteinsdottir, Jon Gunnlaugur Jonasson

  • 1Department of Pathology, Landspitali University Hospital, Reykjavik, Iceland.

Genes, Chromosomes & Cancer
|August 31, 2004
PubMed

Insights

The chromosome 3 common eliminated region 1 (C3CER1) is frequently lost in many solid tumors, suggesting it harbors critical tumor-suppressor genes important across various tissues.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • A specific human chromosomal segment, chromosome 3 common eliminated region 1 (C3CER1), is consistently lost during tumor formation.
  • This region at 3p21.3 is hypothesized to contain multiple tumor-suppressor genes due to its frequent elimination across different tumor types and species.
  • The study aimed to determine if C3CER1's importance extends beyond tissue specificity, affecting various human solid tumors.

Purpose of the Study:

  • To evaluate the frequency of C3CER1 deletions in a diverse set of human solid tumors.
  • To compare C3CER1 deletion rates with those in other 3p regions (FHIT/FRA3B and VHL).
  • To investigate the nature of deletions within the C3CER1 region.

Main Methods:

  • Loss of heterozygosity (LOH) analysis was performed on 576 human solid tumors from 10 different tissues.
  • Deletion frequencies in the C3CER1 region were compared to the FHIT/FRA3B (3p14.2) and VHL (3p25.3) regions.
  • Tumor samples were analyzed for LOH at informative markers within these chromosomal regions.

Main Results:

  • Deletions in the C3CER1 region were detected in 83% of informative tumors, significantly higher than in the VHL (73%) and FHIT (43%) regions.
  • High deletion frequencies (70-94%) were observed across most tumor types, with soft-tissue sarcomas being an exception (40%).
  • Interstitial deletions, including C3CER1, were found to be more prevalent than 3p14.2-pter losses in solid tumors.

Conclusions:

  • The C3CER1 region is a frequently altered locus across a wide spectrum of human solid tumors, supporting its role in tumorigenesis.
  • The high frequency and broad tissue distribution of C3CER1 deletions suggest the presence of critical tumor-suppressor genes within this segment.
  • Interstitial deletions are a common mechanism of C3CER1 loss in solid tumors.

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