Heterozygous germline <i>BLM</i> mutations increase susceptibility to asbestos and mesothelioma.

ABSTRACT: 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 States (c.968A>G; p.K323R). Some of the relatives who inherited these mutations developed mesothelioma, while none with nonmutated BLM were affected. Furthermore, among 122 patients with sporadic mesothelioma treated at the US National Cancer Institute, 5 carried pathogenic germline BLM^+/- mutations. Therefore

SUBMITTER: Bononi A 

PROVIDER: S-EPMC7776606 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature