Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma
Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma
About this item
Full title
Author / Creator
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 and Carbone, Michele
Publisher
United States: National Academy of Sciences
Journal title
Language
English
Formats
Publication information
Publisher
United States: National Academy of Sciences
Subjects
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
Authors, Artists and Contributors
Author / Creator
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
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