Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma

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...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2020
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7776606/
https://ncbi.nlm.nih.gov/pubmed/33318203
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.2019652117
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