Research LettersGenetic-susceptibility factor and malignant mesothelioma in the Cappadocian region of Turkey
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2021, American Journal of Human GeneticsCitation Excerpt :However, this alone could not explain an epidemic where 50% of all Cappadocia villagers died from mesothelioma, compared to only 4.6% of asbestos miners with at least 10 consecutive years of work.1 After nearly 3 years of living among the villagers, Roushdy-Hammady et al. documented a Cappadocia villager pedigree and described a highly penetrant Mendelian transmission of disease.2 Once the pathogenic BAP1 mutations were found,3 follow-up experimental studies4–6 illuminated how BAP1 and asbestos exposure synergistically cause dangerous oncogenic effects in a gene-environment (GxE) interaction.7
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