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Multi-Center Study Reveals “Genomic Basis” of Mesothelioma

20161721_dna2Doctors with the Broad Institute of Harvard and MIT, the University of Hawaii Cancer Center, and the Departments of Cardiothoracic Surgery and Genome Technology at New York’s Langone Medical Center, have identified four specific genes they believe are directly linked to mesothelioma development.

Scientists have long known that asbestos in the tissue can trigger genetic mutations that lead to mesothelioma. But, while past studies have focused on small sets of genes and have provided a limited view of these mutations, this new study is the first to analyze the entire gene for all possible genetic alterations.

The new study involved whole exome sequencing – or a complete analysis of the DNA – on 22 malignant pleural mesothelioma patients. “Integrative analysis of mutations and somatic copy number alternations (SCNAs) revealed frequent genetic alterations in BAP1, NF2, CDKN2A, and CUL1,” writes author Gungwu Guo of the Broad Institute, whose name appears first on the paper.

Among Dr. Guo’s coauthors are noted mesothelioma researchers Dr. Harvey Pass of Langone Medical Center and Dr. Michele Carbone of the University of Hawaii. In all, the researchers found 517 somatic mutations (mutations that occur after conception) across 490 mutated genes.

Mesothelioma is a rare and fast-growing cancer usually caused by exposure to asbestos dust. Although it can take decades for tell-tale symptoms such as cough and chest pain to develop, by the time they do, the disease is almost invariably fatal. Understanding the complex interaction between genes and the environment in mesothelioma may pave the way for better treatments and even ways of preventing the disease.


Guo, G, “Whole exome sequencing reveals frequent genetic alternations in BAP1, NF2, CDKN2A and CUL1 in malignant pleural mesothelioma”, December 8, 2014, Cancer Research, Epub ahead of print

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