Open AccessHeterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma
Author(s) -
Angela Boi,
Keisuke Goto,
Güntülü Ak,
Yasuhiro 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
Publication year - 2020
Publication title -
proceedings of the national academy of sciences of the united states of america
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.011
H-Index - 771
eISSN - 1091-6490
pISSN - 0027-8424
DOI - 10.1073/pnas.2019652117
Subject(s) - mesothelioma , germline , germline mutation , biology , peritoneal mesothelioma , cancer research , population , carcinogenesis , asbestos , mutation , genetics , cancer , medicine , pathology , gene , materials science , environmental health , metallurgy
Significance We found that the probability of carrying heterozygous germlineBLM mutations is significantly higher among mesothelioma patients than in the general population. In vitro and in vivo experiments suggest that heterozygousBLM 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 ofBLM 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.