Identifying Recessive Cancer Genes
Author Information
Author(s): Stefano Volinia, Nicoletta Mascellani, Jlenia Marchesini, Angelo Veronese, Elizabeth Ormondroyd, Hansjuerg Alder, Jeff Palatini, Massimo Negrini, Carlo M. Croce
Primary Institution: Università degli Studi, Ferrara, Italy; Ohio State University, Columbus, Ohio, United States of America; Institute of Cancer Research, Surrey, United Kingdom
Hypothesis
We devised a novel procedure to identify human cancer genes acting in a recessive manner.
Conclusion
The study identified 154 candidate recessive cancer genes, including well-known genes like TP53, PTEN, and CDKN2A, which are frequently mutated in cancer.
Supporting Evidence
- 154 candidate recessive cancer genes were identified with a p-value less than 1.5×10−7.
- TP53, PTEN, and CDKN2A ranked in the top 0.5% of the studied genes.
- The functions affected by cancer mutations overlap with known cancer genes, except for tyrosine kinases.
Takeaway
The researchers found new genes that can cause cancer when both copies are mutated, which is different from the more common cancer genes that only need one copy to be mutated.
Methodology
The study combined data from over 20,000 genes and 700 array comparative genomic hybridizations to identify recessive cancer genes based on various types of genetic alterations.
Potential Biases
Potential bias due to sequencing errors and the absence of germ-line sequences corresponding to tumor libraries.
Limitations
The study's reliance on EST data may introduce sequencing errors, and the somatic nature of detected mutations cannot be formally established.
Statistical Information
P-Value
p<1.5×10−7
Statistical Significance
p<1.5×10−7
Digital Object Identifier (DOI)
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