Heterozygous germline <i>BLM</i> mutations increase susceptibility to asbestos and mesothelioma
Angela Bononi, Keisuke Goto, Güntülü Ak, Yoshie Yoshikawa, Mitsuru Emi, Sandra Pastorino, Lorenzo Carparelli, Angelica Ferro, Masaki Nasu, Jinhee Kim, Joelle Sacks Suarez, Ronghui Xu, Mika Tanji, Yasutaka Takinishi, Michael Minaai, Flavia Novelli, Ian Pagano, Giovanni Gaudino, Harvey I. Pass, Joanna Groden, Joseph J. Grzymski, Muzaffer Metintaş, Muhittin Akarsu, Betsy Morrow, Raffit Hassan, Haining Yang, Michele Carbone
Abstract
Significance We found that the probability of carrying heterozygous germline BLM mutations is significantly higher among mesothelioma patients than in the general population. In vitro and in vivo experiments suggest that heterozygous BLM mutations increase susceptibility to mesothelioma. BLM -mutation carriers are at higher risk of developing mesothelioma, and their risk increases upon asbestos exposure. Therefore, BLM mutation carriers should benefit from prevention and screening for early detection. We suggest that genetic testing to identify carriers of BLM heterozygous mutations and genetic counseling would help identify individuals at higher risk of mesothelioma and provide mutation carriers the option to implement simple preventive measures to reduce exposure to asbestos and other carcinogenic fibers to decrease their risk of developing mesothelioma.