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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Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2020
Fag:
Biological Sciences
Online adgang: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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