Funded by the National Institutes of Health and the National Cancer Institute, a team of international scientists and researchers published a pioneering paper about a genetic predisposition to malignant mesothelioma.

Initially, the research team set out to explore preventive measures for mesothelioma and whether there could be a genetic susceptibility to the disease. What the research team discovered is no less than shocking.

Working with two families that have a documented abnormally high rate of malignant mesothelioma, the scientists discovered that those individuals within these particular families that developed mesothelioma, all of them had distinct mutations in proteins, BRCA1 and BAP1. This study solidly demonstrates that the majority of mesothelioma cases are directly linked to asbestos exposure, there is also a genetic predisposition for others who have these mutations.

In short, individuals that have inherited mutations in two proteins – BRCA1 and BAP1 – the chance of later developing increases.

BRCA1 is a breast cancer gene, and if the gene mutates, then an individual’s risk for developing breast cancer increases. Properly working, the BRCA1 gene repairs DNA. However, if the gene mutates, then BRCA1 is unable to repair the damaged cells.

BAP1 is a protein associated with BRCA1 that helps BRCA1 combat tumor growth. Unfortunately, if BAP1 mutates, then its even more challenging for BRCA1 to prevent the growth and spread of tumors, especially if BRCA1 itself is also mutated.

Researchers found that individuals that have these mutations – specifically, a mutation somewhere along the BAP1 gene – not only increase their chance of developing malignant mesothelioma after asbestos exposure, but also may develop malignant mesothelioma spontaneously.

The discovery surrounding the BAP1 mutation and the link to developing malignant mesothelioma and other cancers at higher rates is the primary focus of the study and possibly the most astonishing.
Understanding the causal link between inherited genetic mutations and later developing mesothelioma will help researchers pinpoint high-risk individuals. Identifying individuals who carry this genetic mutation is gigantic first step in the direction of prevention and early mesothelioma diagnosis.

Further, the study also demonstrated that with these two genetic mutations, other cancers are more likely to develop, including ovarian, breast and pancreatic cancers.

This particular study is a part of on-going research into causes and prevention of mesothelioma, and how asbestos exposure affects the public the National Institutes of Health is undertaking.

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