We updated the design of this site on September 25th. Learn more.
Show more
ClinicalTrials.gov Menu

Do Your Genes Put You at a Higher Risk of Developing Mesothelioma

This study has been completed.
ClinicalTrials.gov Identifier:
First Posted: May 3, 2012
Last Update Posted: May 5, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
University of Pennsylvania
Mayo Clinic
New York University School of Medicine
Johns Hopkins University
Memorial Sloan Kettering Cancer Center
Mesothelioma Applied Research Foundation, Inc.
Information provided by (Responsible Party):
Jill Ohar MD, Wake Forest University Health Sciences
The purpose of this research study is to investigate the possibility that a person's genes put a person at a higher risk of developing mesothelioma. The investigators will examine genes from DNA (genetic material) isolated from blood. This study will also examine the impact of environmental and work exposures and family history of common cancers on the development of mesothelioma. The genetic markers in this study will basically identify how a person's body processes frequently encountered environmental pollutants and will not tell about chromosomes, specific diseases, or other potential health problems.


Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: Consortium for the Sharing of Germ Line DNA and Tissue From Subjects With Mesothelioma

Resource links provided by NLM:

Further study details as provided by Jill Ohar MD, Wake Forest University Health Sciences:

Primary Outcome Measures:
  • Creation of a consortium of investigators (6 sites) for collection of blood for germline DNA and demographic information from 1000 mesothelioma subjects. [ Time Frame: Participants will be seen on one occasion lasting 30-60 min to draw blood and elicit demographic information. It will require up to 2 years to enroll 1000 subjects with mesothelioma from the various sites. ]
    Demographic variables that will be collected include; date of birth, gender, age at first exposure to asbestos, type of exposure (occupational or bystander), family health history, personal past medical history, smoking history, age at diagnosis, latency, tumor location and cell type.

Secondary Outcome Measures:
  • GWAS will be performed on the DNA from the 1000 subjects with mesothelioma and compared with 1000 age and asbestos exposure matched controls free of past personal history and family history of cancer. [ Time Frame: It will take up to 1 year, after the collection of the 1000 mesothelioma samples, to perform and analyze the GWAS. ]
    Given the significant risk for cancers other than the index mesothelioma in both subjects and their 1st degree relative (nearly 3 fold for sibs, parents and the mesothelioma subjects themselves and 7 fold for their children), the goal is to identify SNPs involved with mesothelioma and other common cancer susceptibility.

Biospecimen Retention:   Samples With DNA
whole blood

Enrollment: 69
Study Start Date: June 2011
Study Completion Date: December 2015
Primary Completion Date: December 2014 (Final data collection date for primary outcome measure)
Individuals who have been diagnosed with mesothelioma

Detailed Description:

Mesothelioma is a cancer that develops from serosal surfaces usually in response to prior asbestos exposure. A history of asbestos exposure can be elicited in more than 80% of mesothelioma victims. However, asbestos exposure alone is not sufficient to cause the development of mesothelioma. Nearly 27 million individuals in the US, were exposed to asbestos in the work place between 1940 and 1979 but just 3,000 new cases of mesothelioma are diagnosed each year. Therefore, the investigators hypothesis is that genetic variation in addition to asbestos exposure, and host factors contribute to the development of mesothelioma. It is estimated, based on the investigators preliminary studies, that a population in excess of 1,000 subjects with mesothelioma is required to perform a valid GWAS.

Therefore a multicenter approach is necessary to collect data and DNA on sufficient numbers with mesothelioma to adequately evaluate genetic risk. It is the aim of this proposal to develop a consortium of mesothelioma investigators to share phenotypic data and DNA samples and to perform genome wide association scanning (GWAS).


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Subjects will be recruited from the clinics and in patient wards of the academic medical centers noted as collaborators.

Inclusion Criteria:

  • Subjects able to provide informed consent who suffer from mesothelioma

Exclusion Criteria:

  • Inability to provide informed consent
  • Absence of mesothelioma in self
  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01590472

United States, Maryland
Johns Hopkins University
Baltimore, Maryland, United States, 21287
United States, Minnesota
Mayo Clinic
Rochester, Minnesota, United States, 55905
United States, New York
New York University School of Medicine
New York, New York, United States, 10016
Memorial Sloan Kettering Cancer Center
New York, New York, United States, 10065
United States, North Carolina
Wake Forest University Health Sciences
Winston-Salem, North Carolina, United States, 27157
United States, Pennsylvania
University of Pennsylvania
Philadelphia, Pennsylvania, United States, 19104
Sponsors and Collaborators
Wake Forest University
University of Pennsylvania
Mayo Clinic
New York University School of Medicine
Johns Hopkins University
Memorial Sloan Kettering Cancer Center
Mesothelioma Applied Research Foundation, Inc.
Study Director: Jill Ohar, MD Wake Forest University
Principal Investigator: Lee Krug, MD Memorial Sloan Kettering Cancer Center
Principal Investigator: Julie Brahmer, MD Johns Hopkins University
Principal Investigator: Harvey I Pass, MD New York University School of Medicine
Principal Investigator: Tobias Peikert, MD Mayo Clinic
Principal Investigator: Daniel H Sterman, MD University of Pennsylvania
  More Information

Bertazzi PA. Descriptive epidemiology of malignant mesothelioma. Med Lav. 2005 Jul-Aug;96(4):287-303. Review.
Paul S, Neragi-Miandoab S, Jaklitsch MT. Preoperative assessment and therapeutic options for patients with malignant pleural mesothelioma. Thorac Surg Clin. 2004 Nov;14(4):505-16, ix. Review.
Xu L, Flynn BJ, Ungar S, Pass HI, Linnainmaa K, Mattson K, Gerwin BI. Asbestos induction of extended lifespan in normal human mesothelial cells: interindividual susceptibility and SV40 T antigen. Carcinogenesis. 1999 May;20(5):773-83.
Bocchetta M, Di Resta I, Powers A, Fresco R, Tosolini A, Testa JR, Pass HI, Rizzo P, Carbone M. Human mesothelial cells are unusually susceptible to simian virus 40-mediated transformation and asbestos cocarcinogenicity. Proc Natl Acad Sci U S A. 2000 Aug 29;97(18):10214-9.
Kamp DW, Weitzman SA. Asbestosis: clinical spectrum and pathogenic mechanisms. Proc Soc Exp Biol Med. 1997 Jan;214(1):12-26. Review.
Sluis-Cremer GK. Asbestos disease at low exposures after long residence times. Ann N Y Acad Sci. 1991 Dec 31;643:182-93.
Neragi-Miandoab S. Multimodality approach in management of malignant pleural mesothelioma. Eur J Cardiothorac Surg. 2006 Jan;29(1):14-9. Epub 2005 Dec 15. Review.
Berry G, Wagner JC. Effect of age at inoculation of asbestos on occurrence of mesotheliomas in rats. Int J Cancer. 1976 Apr 15;17(4):477-83.
Becklake MR, Toyota B, Stewart M, Hanson R, Hanley J. Lung structure as a risk factor in adverse pulmonary responses to asbestos exposure. A case-referent study in Quebec chrysotile miners and millers. Am Rev Respir Dis. 1983 Sep;128(3):385-8.
Spirtas R, Heineman EF, Bernstein L, Beebe GW, Keehn RJ, Stark A, Harlow BL, Benichou J. Malignant mesothelioma: attributable risk of asbestos exposure. Occup Environ Med. 1994 Dec;51(12):804-11.
Baris YI, Sahin AA, Ozesmi M, Kerse I, Ozen E, Kolacan B, Altinörs M, Göktepeli A. An outbreak of pleural mesothelioma and chronic fibrosing pleurisy in the village of Karain/Urgüp in Anatolia. Thorax. 1978 Apr;33(2):181-92.
Baris I, Simonato L, Artvinli M, Pooley F, Saracci R, Skidmore J, Wagner C. Epidemiological and environmental evidence of the health effects of exposure to erionite fibres: a four-year study in the Cappadocian region of Turkey. Int J Cancer. 1987 Jan 15;39(1):10-7.
Amundadottir LT, Sulem P, Gudmundsson J, Helgason A, Baker A, Agnarsson BA, Sigurdsson A, Benediktsdottir KR, Cazier JB, Sainz J, Jakobsdottir M, Kostic J, Magnusdottir DN, Ghosh S, Agnarsson K, Birgisdottir B, Le Roux L, Olafsdottir A, Blondal T, Andresdottir M, Gretarsdottir OS, Bergthorsson JT, Gudbjartsson D, Gylfason A, Thorleifsson G, Manolescu A, Kristjansson K, Geirsson G, Isaksson H, Douglas J, Johansson JE, Bälter K, Wiklund F, Montie JE, Yu X, Suarez BK, Ober C, Cooney KA, Gronberg H, Catalona WJ, Einarsson GV, Barkardottir RB, Gulcher JR, Kong A, Thorsteinsdottir U, Stefansson K. A common variant associated with prostate cancer in European and African populations. Nat Genet. 2006 Jun;38(6):652-8. Epub 2006 May 7.
Freedman ML, Haiman CA, Patterson N, McDonald GJ, Tandon A, Waliszewska A, Penney K, Steen RG, Ardlie K, John EM, Oakley-Girvan I, Whittemore AS, Cooney KA, Ingles SA, Altshuler D, Henderson BE, Reich D. Admixture mapping identifies 8q24 as a prostate cancer risk locus in African-American men. Proc Natl Acad Sci U S A. 2006 Sep 19;103(38):14068-73. Epub 2006 Aug 31.
Rai AJ, Flores RM, Mathew A, Gonzalez-Espinoza R, Bott M, Ladanyi M, Rusch V, Fleisher M. Soluble mesothelin related peptides (SMRP) and osteopontin as protein biomarkers for malignant mesothelioma: analytical validation of ELISA based assays and characterization at mRNA and protein levels. Clin Chem Lab Med. 2010 Feb;48(2):271-8. doi: 10.1515/CCLM.2010.066.
Tajima K, Ohashi R, Sekido Y, Hida T, Nara T, Hashimoto M, Iwakami S, Minakata K, Yae T, Takahashi F, Saya H, Takahashi K. Osteopontin-mediated enhanced hyaluronan binding induces multidrug resistance in mesothelioma cells. Oncogene. 2010 Apr 1;29(13):1941-51. doi: 10.1038/onc.2009.478. Epub 2010 Jan 18.
Ohashi R, Tajima K, Takahashi F, Cui R, Gu T, Shimizu K, Nishio K, Fukuoka K, Nakano T, Takahashi K. Osteopontin modulates malignant pleural mesothelioma cell functions in vitro. Anticancer Res. 2009 Jun;29(6):2205-14.
Cerhan JR, Ansell SM, Fredericksen ZS, Kay NE, Liebow M, Call TG, Dogan A, Cunningham JM, Wang AH, Liu-Mares W, Macon WR, Jelinek D, Witzig TE, Habermann TM, Slager SL. Genetic variation in 1253 immune and inflammation genes and risk of non-Hodgkin lymphoma. Blood. 2007 Dec 15;110(13):4455-63. Epub 2007 Sep 7.
Langsenlehner U, Renner W, Yazdani-Biuki B, Eder T, Wascher TC, Paulweber B, Clar H, Hofmann G, Samonigg H, Krippl P. Integrin alpha-2 and beta-3 gene polymorphisms and breast cancer risk. Breast Cancer Res Treat. 2006 May;97(1):67-72.
Gerger A, Hofmann G, Langsenlehner U, Renner W, Weitzer W, Wehrschütz M, Wascher T, Samonigg H, Krippl P. Integrin alpha-2 and beta-3 gene polymorphisms and colorectal cancer risk. Int J Colorectal Dis. 2009 Feb;24(2):159-63. doi: 10.1007/s00384-008-0587-9. Epub 2008 Oct 3.
O'Donnell CJ, Nabel EG. Cardiovascular genomics, personalized medicine, and the National Heart, Lung, and Blood Institute: part I: the beginning of an era. Circ Cardiovasc Genet. 2008 Oct;1(1):51-7. doi: 10.1161/CIRCGENETICS.108.813337. Review.
Ohar J, Sterling DA, Bleecker E, Donohue J. Changing patterns in asbestos-induced lung disease. Chest. 2004 Feb;125(2):744-53.
Hirschhorn JN, Daly MJ. Genome-wide association studies for common diseases and complex traits. Nat Rev Genet. 2005 Feb;6(2):95-108. Review.
Boezen HM. Genome-wide association studies: what do they teach us about asthma and chronic obstructive pulmonary disease? Proc Am Thorac Soc. 2009 Dec;6(8):701-3. doi: 10.1513/pats.200907-058DP. Review.
Landi S, Gemignani F, Neri M, Barale R, Bonassi S, Bottari F, Canessa PA, Canzian F, Ceppi M, Filiberti R, Ivaldi GP, Mencoboni M, Scaruffi P, Tonini GP, Mutti L, Puntoni R. Polymorphisms of glutathione-S-transferase M1 and manganese superoxide dismutase are associated with the risk of malignant pleural mesothelioma. Int J Cancer. 2007 Jun 15;120(12):2739-43.
Dianzani I, Gibello L, Biava A, Giordano M, Bertolotti M, Betti M, Ferrante D, Guarrera S, Betta GP, Mirabelli D, Matullo G, Magnani C. Polymorphisms in DNA repair genes as risk factors for asbestos-related malignant mesothelioma in a general population study. Mutat Res. 2006 Jul 25;599(1-2):124-34. Epub 2006 Mar 27.
Robinson BW, Lake RA. Advances in malignant mesothelioma. N Engl J Med. 2005 Oct 13;353(15):1591-603. Review.
Robinson BW, Musk AW, Lake RA. Malignant mesothelioma. Lancet. 2005 Jul 30-Aug 5;366(9483):397-408. Review.
Wheatley-Price P, Yang B, Patsios D, Patel D, Ma C, Xu W, Leighl N, Feld R, Cho BC, O'Sullivan B, Roberts H, Tsao MS, Tammemagi M, Anraku M, Chen Z, de Perrot M, Liu G. Soluble mesothelin-related Peptide and osteopontin as markers of response in malignant mesothelioma. J Clin Oncol. 2010 Jul 10;28(20):3316-22. doi: 10.1200/JCO.2009.26.9944. Epub 2010 May 24.
Ohar JA, Ampleford EJ, Howard SE, Sterling DA. Identification of a mesothelioma phenotype. Respir Med. 2007 Mar;101(3):503-9. Epub 2006 Aug 21. Erratum in: Respir Med. 2008 Dec;102(12):1844.
Gudmundsson J, Sulem P, Steinthorsdottir V, Bergthorsson JT, Thorleifsson G, Manolescu A, Rafnar T, Gudbjartsson D, Agnarsson BA, Baker A, Sigurdsson A, Benediktsdottir KR, Jakobsdottir M, Blondal T, Stacey SN, Helgason A, Gunnarsdottir S, Olafsdottir A, Kristinsson KT, Birgisdottir B, Ghosh S, Thorlacius S, Magnusdottir D, Stefansdottir G, Kristjansson K, Bagger Y, Wilensky RL, Reilly MP, Morris AD, Kimber CH, Adeyemo A, Chen Y, Zhou J, So WY, Tong PC, Ng MC, Hansen T, Andersen G, Borch-Johnsen K, Jorgensen T, Tres A, Fuertes F, Ruiz-Echarri M, Asin L, Saez B, van Boven E, Klaver S, Swinkels DW, Aben KK, Graif T, Cashy J, Suarez BK, van Vierssen Trip O, Frigge ML, Ober C, Hofker MH, Wijmenga C, Christiansen C, Rader DJ, Palmer CN, Rotimi C, Chan JC, Pedersen O, Sigurdsson G, Benediktsson R, Jonsson E, Einarsson GV, Mayordomo JI, Catalona WJ, Kiemeney LA, Barkardottir RB, Gulcher JR, Thorsteinsdottir U, Kong A, Stefansson K. Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. Nat Genet. 2007 Aug;39(8):977-83. Epub 2007 Jul 1.
Gudmundsson J, Sulem P, Manolescu A, Amundadottir LT, Gudbjartsson D, Helgason A, Rafnar T, Bergthorsson JT, Agnarsson BA, Baker A, Sigurdsson A, Benediktsdottir KR, Jakobsdottir M, Xu J, Blondal T, Kostic J, Sun J, Ghosh S, Stacey SN, Mouy M, Saemundsdottir J, Backman VM, Kristjansson K, Tres A, Partin AW, Albers-Akkers MT, Godino-Ivan Marcos J, Walsh PC, Swinkels DW, Navarrete S, Isaacs SD, Aben KK, Graif T, Cashy J, Ruiz-Echarri M, Wiley KE, Suarez BK, Witjes JA, Frigge M, Ober C, Jonsson E, Einarsson GV, Mayordomo JI, Kiemeney LA, Isaacs WB, Catalona WJ, Barkardottir RB, Gulcher JR, Thorsteinsdottir U, Kong A, Stefansson K. Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nat Genet. 2007 May;39(5):631-7. Epub 2007 Apr 1.
Smith DD. Women and mesothelioma. Chest. 2002 Dec;122(6):1885-6.
Asbestos, asbestosis, and cancer: the Helsinki criteria for diagnosis and attribution. Scand J Work Environ Health. 1997 Aug;23(4):311-6. Review.
Centers for Disease Control and Prevention (CDC). Malignant mesothelioma mortality--United States, 1999-2005. MMWR Morb Mortal Wkly Rep. 2009 Apr 24;58(15):393-6.

Responsible Party: Jill Ohar MD, Professor of Medicine, Wake Forest University Health Sciences
ClinicalTrials.gov Identifier: NCT01590472     History of Changes
Other Study ID Numbers: GTS 36076 MARF
First Submitted: April 23, 2012
First Posted: May 3, 2012
Last Update Posted: May 5, 2017
Last Verified: May 2017

Keywords provided by Jill Ohar MD, Wake Forest University Health Sciences:
Genetics of Mesothelioma
Mesothelioma Consortium

Additional relevant MeSH terms:
Neoplasms, Glandular and Epithelial
Neoplasms by Histologic Type
Neoplasms, Mesothelial

To Top