Article
Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma.
Proceedings of the National Academy of Sciences of the United States of America - 29 Dec 2020
Bononi Angela, Goto Keisuke, Ak Guntulu, Yoshikawa Yoshie, Emi Mitsuru, Pastorino Sandra, Carparelli Lorenzo, Ferro Angelica, Nasu Masaki, Kim Jin-Hee, Suarez Joelle S, Xu Ronghui, Tanji Mika, Takinishi Yasutaka, Minaai Michael, Novelli Flavia, Pagano Ian, Gaudino Giovanni, Pass Harvey I, Groden Joanna, Grzymski Joseph J, Metintas Muzaffer, Akarsu Muhittin, Morrow Betsy, Hassan Raffit, Yang Haining, Carbone Michele
Abstract excerpt
Rare biallelic BLM gene mutations cause Bloom syndrome. Whether BLM heterozygous germline mutations (BLM+/-) cause human cancer remains unclear. We sequenced the germline DNA of 155 mesothelioma patients (33 familial and 122 sporadic). We found 2 deleterious germline BLM+/- mutations within 2 of 33 families with multiple cases of mesothelioma, one from Turkey (c.569_570del; p.R191Kfs*4) and one from the United...
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