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Familial cancer associated with a polymorphism in ARLTS1
George Adrian Calin1, Francesco Trapasso, Masayoshi Shimizu
1Thomas Jefferson University, Philadelphia, USA.
The New England Journal of Medicine
|April 22, 2005
Summary
A novel tumor-suppressor gene, ARLTS1, located at 13q14, was identified. A specific genetic variant of ARLTS1 increases the risk of familial cancer, highlighting its role in cancer predisposition.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- Deletions at chromosome 13q14 in neoplasms suggest a tumor-suppressor locus near the RB1 gene.
- The ADP-ribosylation factor family gene, ARLTS1, is identified at 13q14.
Purpose of the Study:
- To identify and characterize a novel tumor-suppressor gene at 13q14.
- To investigate the role of ARLTS1 in sporadic and familial cancers.
Main Methods:
- Analysis of 800 DNA samples from patients with sporadic/familial cancer and controls.
- Functional studies using cell lines with and without ARLTS1 expression.
- Promoter methylation analysis and gene transfection experiments.
Main Results:
- ARLTS1 exhibits tumor-suppressor properties.
- A nonsense polymorphism (G446A/Trp149Stop) in ARLTS1 was significantly more frequent in familial cancer patients (OR=5.7, P=0.02).
- ARLTS1 was down-regulated by promoter methylation in 25% of primary tumors; wild-type ARLTS1 suppressed tumor formation and induced apoptosis in lung cancer cells.
Conclusions:
- ARLTS1 is a tumor-suppressor gene at 13q14.
- A specific genetic variant of ARLTS1 confers predisposition to familial cancer.
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