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Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma

Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7776606

Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma

About this item

Full title

Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma

Publisher

United States: National Academy of Sciences

Journal title

Proceedings of the National Academy of Sciences - PNAS, 2020-12, Vol.117 (52), p.33466-33473

Language

English

Formats

Publication information

Publisher

United States: National Academy of Sciences

More information

Scope and Contents

Contents

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 mesothelio...

Alternative Titles

Full title

Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7776606

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7776606

Other Identifiers

ISSN

0027-8424

E-ISSN

1091-6490

DOI

10.1073/pnas.2019652117

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