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Inherited Genetic Mutations And Polymorphisms In Malignant Mesothelioma: A Comprehensive Review

V. Panou, O. D. Røe
Published 2020 · Biology, Medicine

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Malignant mesothelioma (MM) is mainly caused by air-born asbestos but genetic susceptibility is also suspected to be a risk factor. Recent studies suggest an increasing number of candidate genes that may predispose to MM besides the well-characterized BRCA1-associated protein-1 gene. The aim of this review is to summarize the most important studies on germline mutations for MM. A total of 860 publications were retrieved from Scopus, PubMed and Web of Science, of which 81 met the inclusion criteria and were consider for this review. More than 50% of the genes that are reported to predispose to MM are involved in DNA repair mechanisms, and the majority of them have a role in the homologous recombination pathway. Genetic alterations in tumor suppressor genes involved in chromatin, transcription and hypoxia regulation have also been described. Furthermore, we identified several single nucleotide polymorphisms (SNPs) that may promote MM tumorigenesis as a result of an asbestos–gene interaction, including SNPs in DNA repair, carcinogen detoxification and other genes previously associated with other malignancies. The identification of inherited mutations for MM and an understanding of the underlying pathways may allow early detection and prevention of malignancies in high-risk individuals and pave the way for targeted therapies.
This paper references
10.3109/10408444.2012.709821
Evaluation of take home (para-occupational) exposure to asbestos and disease: a review of the literature
E. Donovan (2012)
10.5271/sjweh.3756
Non-occupational exposure to asbestos is the main cause of malignant mesothelioma in women in North Jutland, Denmark.
V. Panou (2019)
10.1016/J.CCR.2006.10.012
Che-1 phosphorylation by ATM/ATR and Chk2 kinases activates p53 transcription and the G2/M checkpoint.
T. Bruno (2006)
10.1200/JCO.2003.11.136
Phase III study of pemetrexed in combination with cisplatin versus cisplatin alone in patients with malignant pleural mesothelioma.
N. Vogelzang (2003)
Arrayed Ranks Array Technology in the Study of Mesothelioma Steven
S. G. Gray (2009)
10.3390/cancers11081114
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines
Cindy Chau (2019)
10.1038/onc.2011.517
NF-κB and STAT3 cooperatively induce IL6 in starved cancer cells
S. Yoon (2012)
10.1038/nature03097
Cell-cycle checkpoints and cancer
M. Kastan (2004)
10.1016/j.lungcan.2013.04.018
A genome-wide association study for malignant mesothelioma risk.
G. Cadby (2013)
10.1038/ng.910
Germline mutations in BAP1 predispose to melanocytic tumors
T. Wiesner (2011)
10.1093/carcin/bgv097
Gene-asbestos interaction in malignant pleural mesothelioma susceptibility.
S. Tunesi (2015)
10.1016/J.BREASTDIS.2011.03.043
Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial
K. Gelmon (2011)
10.1158/0008-5472.CAN-09-3092
An oncogenic role for ETV1 in melanoma.
J. Jané-Valbuena (2010)
RBM 6 - RBM 5 Transcription - Induced Chimeras Are Di ff erentially Expressed in Tumours
T. Bratkovič (2007)
10.1016/J.YOBG.2011.05.178
Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial
J. S. Dungan (2011)
10.1016/J.MRFMMM.2005.06.003
Pleural malignant mesothelioma, genetic susceptibility and asbestos exposure.
M. Neri (2005)
10.1093/jnci/djy171
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide
S. Walpole (2018)
10.1158/0008-5472.CAN-08-3355
BRCA1-associated protein 1 interferes with BRCA1/BARD1 RING heterodimer activity.
H. Nishikawa (2009)
10.1038/onc.2009.4
The SWI/SNF complex and cancer
D. Reisman (2009)
10.1126/science.1228463
Emerging Anatomy of the BAP1 Tumor Suppressor System
A. White (2012)
10.1016/j.semcancer.2008.11.008
Mitochondria in cancer: not just innocent bystanders.
C. Frezza (2009)
Nasopharyngeal carcinoma and genetic polymorphisms of DNA repair enzymes XRCC1 and hOGG1.
En-Yu Cho (2003)
10.1016/j.canlet.2016.05.011
CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma.
M. Betti (2016)
10.1183/09059180.00007014
Malignant pleural mesothelioma: history, controversy and future of a manmade epidemic
O. D. Røe (2015)
10.1056/NEJMoa1506859
DNA-Repair Defects and Olaparib in Metastatic Prostate Cancer.
J. Mateo (2015)
10.1038/s41525-019-0087-6
High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer
B. Bertelsen (2019)
10.1038/sj.onc.1203533
Roles of two VEGF receptors, Flt-1 and KDR, in the signal transduction of VEGF effects in human vascular endothelial cells
S. Kanno (2000)
10.1200/JCO.2018.78.5204
Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma.
V. Panou (2018)
10.1016/j.cancergencyto.2010.06.008
Characterization of FRA7B, a human common fragile site mapped at the 7p chromosome terminal region.
N. Bosco (2010)
10.1016/J.MRREV.2019.03.001
Genetic predisposition for malignant mesothelioma: A concise review.
M. Betti (2019)
10.1016/S1470-2045(12)70584-3
Effects on survival of BAP1 and PBRM1 mutations in sporadic clear-cell renal-cell carcinoma: a retrospective analysis with independent validation.
P. Kapur (2013)
10.1089/gtmb.2012.0278
The genotype distribution of the XRCC1, XRCC3, and XPD DNA repair genes and their role for the development of acute myeloblastic leukemia.
A. Sorour (2013)
Smoking and 32P-DNA Adducts in a Sample of Healthy Subjects
G Matullo (2001)
10.1038/nrc3088
DNA interstrand crosslink repair and cancer
Andrew J. Deans (2011)
10.1016/j.mrrev.2008.02.002
Genetic susceptibility to malignant pleural mesothelioma and other asbestos-associated diseases.
M. Neri (2008)
10.1186/s40364-015-0040-5
BAP1 hereditary cancer predisposition syndrome: a case report and review of literature
S. Klebe (2015)
10.1093/hmg/ddt638
The tumor susceptibility gene TMEM127 is mutated in renal cell carcinomas and modulates endolysosomal function.
Y. Qin (2014)
10.1054/bjoc.1999.1037
Manganese superoxide dismutase as a diagnostic marker for malignant pleural mesothelioma
K. Kahlos (2000)
10.5858/arpa.2017-0124-RA
Guidelines for Pathologic Diagnosis of Malignant Mesothelioma 2017 Update of the Consensus Statement From the International Mesothelioma Interest Group.
A. Husain (2018)
10.1038/sj.onc.1204621
Relative frequency and morphology of cancers in carriers of germline TP53 mutations
Jillian M. Birch (2001)
10.1002/gcc.22129
Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases
R. Pilarski (2014)
10.1016/j.bbrc.2015.12.101
Long non-coding RNA PVT1 and cancer.
M. Cui (2016)
Polymorphisms in glutathione S-transferases (GSTM1 and GSTT1) and survival after treatment for breast cancer.
C. Ambrosone (2001)
10.1038/sj.onc.1210302
TP53 mutations in human cancers: functional selection and impact on cancer prognosis and outcomes
A. Petitjean (2007)
10.1016/J.IJHEH.2006.03.002
Metabolic genotypes as modulators of asbestos-related pleural malignant mesothelioma risk: a comparison of Finnish and Italian populations.
M. Neri (2006)
10.1146/annurev-publhealth-031811-124704
The worldwide pandemic of asbestos-related diseases.
L. Stayner (2013)
10.1038/nrm805
The MRE11 complex: at the crossroads of DNA repair and checkpoint signalling
D. D'Amours (2002)
10.1177/1066896916680745
Metachronous Uterine Endometrioid Adenocarcinoma and Peritoneal Mesothelioma in Lynch Syndrome: A Case Report
Y. Lu (2017)
10.1158/0008-5472.CAN-15-0295
Germline BAP1 Mutational Landscape of Asbestos-Exposed Malignant Mesothelioma Patients with Family History of Cancer.
J. Ohar (2016)
10.1016/j.humpath.2011.12.012
Unusual DNA mismatch repair-deficient tumors in Lynch syndrome: a report of new cases and review of the literature.
Yevgeniy S Karamurzin (2012)
10.1371/journal.pone.0061253
Genetic Variants Associated with Increased Risk of Malignant Pleural Mesothelioma: A Genome-Wide Association Study
G. Matullo (2013)
10.1097/PAT.0b013e3283653818
BAP1 expression in cutaneous melanoma: a pilot study.
R. Murali (2013)
10.1001/jamaophthalmol.2015.1119
Clinical Characteristics of Uveal Melanoma in Patients With Germline BAP1 Mutations.
M. Gupta (2015)
10.3978/j.issn.2225-319X.2012.11.04
Malignant pleural mesothelioma: an epidemiological perspective.
Benjamin M. Robinson (2012)
10.1038/ng.912
Germline BAP1 mutations predispose to malignant mesothelioma
J. Testa (2011)
10.1097/01.FPC.0000054067.64000.8F
The Ala16Val genetic dimorphism modulates the import of human manganese superoxide dismutase into rat liver mitochondria.
A. Sutton (2003)
10.1200/JCO.2003.04.060
Role of DNA mismatch repair defects in the pathogenesis of human cancer.
P. Peltomäki (2003)
Treatment Outcomes and Prognosis
W D Foulkes (2006)
10.1016/j.canlet.2011.08.021
DNA repair systems in malignant mesothelioma.
Dimitrios Toumpanakis (2011)
Inherited GSTM1 and NAT2 defects as concurrent risk modifiers in asbestos-related human malignant mesothelioma.
A. Hirvonen (1995)
10.1093/CARCIN/22.9.1437
XRCC1, XRCC3, XPD gene polymorphisms, smoking and (32)P-DNA adducts in a sample of healthy subjects.
G. Matullo (2001)
10.1038/nrm2858
Genomic instability — an evolving hallmark of cancer
S. Negrini (2010)
10.1038/ncomms14648
The SWI/SNF chromatin remodelling complex is required for maintenance of lineage specific enhancers
B. Alver (2017)
10.1093/JNCI/88.24.1853
Glutathione S-transferase and N-acetyltransferase genotypes and asbestos-associated pulmonary disorders.
A. Hirvonen (1996)
10.1158/1055-9965.EPI-06-0776
A Systematic Approach to Analysing Gene-Gene Interactions: Polymorphisms at the Microsomal Epoxide Hydrolase EPHX and Glutathione S-transferase GSTM1, GSTT1, and GSTP1 Loci and Breast Cancer Risk
A. Spurdle (2007)
10.1097/JTO.0000000000000064
Does Surgery Improve Survival of Patients with Malignant Pleural Mesothelioma?: A Multicenter Retrospective Analysis of 1365 Consecutive Patients
P. Bovolato (2014)
10.1038/20459
The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis
P. Maxwell (1999)
10.1016/j.pathol.2017.03.005
Germline BAP1 mutations also predispose to cutaneous squamous cell carcinoma.
R. Rawson (2017)
10.1016/j.gene.2015.03.031
Absence of germline mutations in BAP1 in sporadic cases of malignant mesothelioma.
Sophie Sneddon (2015)
10.1097/JTO.0b013e3181951ce8
In Arrayed Ranks: Array Technology in the Study of Mesothelioma
S. Gray (2009)
10.1016/j.ejca.2012.05.018
Response to chemotherapy is predictive in relation to longer overall survival in an individual patient combined-analysis with pleural mesothelioma.
J. Blayney (2012)
10.1038/bjc.2014.417
Lack of BAP1 protein expression in uveal melanoma is associated with increased metastatic risk and has utility in routine prognostic testing
H. Kalirai (2014)
10.1016/S0304-419X(01)00018-X
Homologous recombination as a mechanism of carcinogenesis.
A. Bishop (2001)
Molecular genetics and epidemiology of the NAT1 and NAT2 acetylation polymorphisms.
D. Hein (2000)
10.3389/fonc.2020.00187
Immunotherapy in Malignant Pleural Mesothelioma
C. J. de Gooijer (2020)
10.1038/ng.2628
Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy
Cigall Kadoch (2013)
10.1093/hmg/ddz076
Population-based analysis of BAP1 germline variations in patients with uveal melanoma.
P. Repo (2019)
10.1186/1471-2164-8-348
RBM6-RBM5 transcription-induced chimeras are differentially expressed in tumours
K. Wang (2007)
10.1101/531210
Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes
K. Karczewski (2019)
10.1136/jmedgenet-2011-100156
Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers
M. Abdel-Rahman (2011)
10.1002/ijc.22590
Polymorphisms of glutathione‐S‐transferase M1 and manganese superoxide dismutase are associated with the risk of malignant pleural mesothelioma
S. Landi (2007)
10.1093/carcin/bgu227
Mesothelioma patients with germline BAP1 mutations have 7-fold improved long-term survival.
F. Baumann (2015)
10.1016/j.cub.2008.12.010
Hedgehog Signaling: Is Smo a G Protein-Coupled Receptor?
M. Philipp (2009)
Asbestos Related Diseases in the United States: Historical Trends and Current Situation
P. J. Landrigan (2018)
10.1007/s10549-011-1403-8
Cancer predisposing BARD1 mutations in breast–ovarian cancer families
M. Ratajska (2011)
10.1016/j.ajhg.2013.04.012
Germline BAP1 mutations predispose to renal cell carcinomas.
Tatiana Popova (2013)
10.1002/jcb.22673
CRTAM: A molecule involved in epithelial cell adhesion
E. Garay (2010)
10.1016/j.jtho.2019.12.111
Brief Report: Novel Germline Mutations in DNA Damage Repair in Patients with Malignant Pleural Mesotheliomas.
R. Guo (2019)
10.1093/neuonc/nox094
BAP1 mutations in high-grade meningioma: implications for patient care.
G. Shankar (2017)
10.1007/s10689-005-2832-5
BRCA1 and BRCA2: Chemosensitivity, Treatment Outcomes and Prognosis
W. Foulkes (2005)
10.1038/nrc3459
BAP1 and cancer
M. Carbone (2013)
10.1016/S0140-6736(10)60892-6
Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial
A. Tutt (2010)
10.2147/LCTT.S83338
Modern management of malignant pleural mesothelioma
S. Patel (2016)
10.1093/ejcts/ezt664
Predictors of long-term survival following radical surgery for malignant pleural mesothelioma.
A. Nakas (2014)
10.1146/annurev-biophys-051013-022737
The Fanconi anemia DNA repair pathway: structural and functional insights into a complex disorder.
H. Walden (2014)
10.1093/CARCIN/21.5.965
Polymorphisms in the DNA repair genes XRCC1 and ERCC2 and biomarkers of DNA damage in human blood mononuclear cells.
E. Duell (2000)
10.1016/j.devcel.2010.06.015
The Merlin/NF2 tumor suppressor functions through the YAP oncoprotein to regulate tissue homeostasis in mammals.
Nailing Zhang (2010)
10.1073/pnas.1821510116
Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy
R. Hassan (2019)
10.1038/ncomms4517
SLC7A14 linked to autosomal recessive retinitis pigmentosa
Zi-Bing Jin (2014)
10.1038/35044005
The DNA damage response: putting checkpoints in perspective
B. Zhou (2000)
10.1158/1078-0432.CCR-12-3886
Adverse Outcomes in Clear Cell Renal Cell Carcinoma with Mutations of 3p21 Epigenetic Regulators BAP1 and SETD2: A Report by MSKCC and the KIRC TCGA Research Network
A. Hakimi (2013)
10.1200/JCO.2018.79.0352
A Subset of Mesotheliomas With Improved Survival Occurring in Carriers of BAP1 and Other Germline Mutations.
S. Pastorino (2018)
10.1038/nrm.2017.26
Mechanisms of action and regulation of ATP-dependent chromatin-remodelling complexes
C. Clapier (2017)
10.1016/S0140-6736(10)60893-8
Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial
M. Audeh (2010)
10.1007/978-3-642-10862-4
[Malignant mesothelioma].
J. Espinosa Arranz (1994)
10.1016/J.MRFMMM.2006.02.005
Polymorphisms in DNA repair genes as risk factors for asbestos-related malignant mesothelioma in a general population study.
I. Dianzani (2006)
10.1016/j.cub.2009.02.018
PALB2 Links BRCA1 and BRCA2 in the DNA-Damage Response
F. Zhang (2009)
10.1016/J.GDE.2004.04.015
Advances in chromatin remodeling and human disease.
K. S. Cho (2004)
10.1016/j.dnarep.2010.09.008
Factors that influence telomeric oxidative base damage and repair by DNA glycosylase OGG1.
David B. Rhee (2011)
10.1016/j.dnarep.2015.02.005
The structural basis of XRCC1-mediated DNA repair.
R. London (2015)
10.1016/j.dnarep.2013.01.003
NER initiation factors, DDB2 and XPC, regulate UV radiation response by recruiting ATR and ATM kinases to DNA damage sites.
A. Ray (2013)
10.1126/SCIENCE.287.5459.1824
DNA damage-induced activation of p53 by the checkpoint kinase Chk2.
A. Hirao (2000)
10.1016/j.aogh.2014.10.002
Occupational and environmental exposures and cancers in developing countries.
D. Hashim (2014)
10.1016/j.lungcan.2014.10.017
Prevalence of BRCA-1 associated protein 1 germline mutation in sporadic malignant pleural mesothelioma cases.
Andreas Rusch (2015)
10.1111/cge.12630
Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases
K. Rai (2016)
10.1371/journal.pone.0035295
Germline BAP1 Inactivation Is Preferentially Associated with Metastatic Ocular Melanoma and Cutaneous-Ocular Melanoma Families
C. Njauw (2012)
10.1016/j.canlet.2017.06.028
Germline mutations in DNA repair genes predispose asbestos-exposed patients to malignant pleural mesothelioma.
M. Betti (2017)
10.1093/JNCI/DJI101
Large-scale investigation of base excision repair genetic polymorphisms and lung cancer risk in a multicenter study.
R. Hung (2005)
10.3390/ijerph14101135
How Canada Changed from Exporting Asbestos to Banning Asbestos: The Challenges That Had to Be Overcome
K. Ruff (2017)
10.1016/j.cell.2013.11.016
Genome-wide Map of Nuclear Protein Degradation Shows NCoR1 Turnover as a Key to Mitochondrial Gene Regulation
André Catic (2013)
10.18632/ONCOTARGET.3466
Oncogenic mutations of thyroid hormone receptor β
J. Park (2015)
10.1158/0008-5472.CAN-06-2301
RaLP, a new member of the Src homology and collagen family, regulates cell migration and tumor growth of metastatic melanomas.
Ernesta Fagiani (2007)
10.1038/ncb2271
RasGRF suppresses Cdc42-mediated tumour cell movement, cytoskeletal dynamics and transformation
F. Calvo (2011)
10.1016/j.mrfmmm.2009.09.003
Risk of malignant pleural mesothelioma and polymorphisms in genes involved in the genome stability and xenobiotics metabolism.
F. Gemignani (2009)
10.1007/s00018-011-0762-y
Biology and applications of small nucleolar RNAs
T. Bratkovič (2011)



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