Review

. 2024 Mar 13;4(3):100500.

doi: 10.1016/j.xgen.2024.100500. Epub 2024 Feb 6.

The Mutographs biorepository: A unique genomic resource to study cancer around the world

Sandra Perdomo¹, Behnoush Abedi-Ardekani¹, Ana Carolina de Carvalho¹, Aida Ferreiro-Iglesias¹, Valérie Gaborieau¹, Thomas Cattiaux¹, Hélène Renard¹, Priscilia Chopard¹, Christine Carreira², Andreea Spanu¹, Arash Nikmanesh¹, Ricardo Cortez Cardoso Penha¹, Samuel O Antwi³, Patricia Ashton-Prolla⁴, Cristina Canova⁵, Taned Chitapanarux⁶, Riley Cox⁷, Maria Paula Curado⁸, José Carlos de Oliveira⁹, Charles Dzamalala¹⁰, Elenora Fabianova¹¹, Lorenzo Ferri¹², Rebecca Fitzgerald¹³, Lenka Foretova¹⁴, Steven Gallinger¹⁵, Alisa M Goldstein¹⁶, Ivana Holcatova¹⁷, Antonio Huertas¹⁸, Vladimir Janout¹⁹, Sonata Jarmalaite²⁰, Radka Kaneva²¹, Luiz Paulo Kowalski²², Tomislav Kulis²³, Pagona Lagiou²⁴, Jolanta Lissowska²⁵, Reza Malekzadeh²⁶, Dana Mates²⁷, Valerie McCorrmack²⁸, Diana Menya²⁹, Sharayu Mhatre³⁰, Blandina Theophil Mmbaga³¹, André de Moricz³², Péter Nyirády³³, Miodrag Ognjanovic³⁴, Kyriaki Papadopoulou³⁵, Jerry Polesel³⁶, Mark P Purdue³⁷, Stefan Rascu³⁸, Lidia Maria Rebolho Batista³⁹, Rui Manuel Reis⁴⁰, Luis Felipe Ribeiro Pinto⁴¹, Paula A Rodríguez-Urrego⁴², Surasak Sangkhathat⁴³, Suleeporn Sangrajrang⁴⁴, Tatsuhiro Shibata⁴⁵, Eduard Stakhovsky⁴⁶, Beata Świątkowska⁴⁷, Carlos Vaccaro⁴⁸, Jose Roberto Vasconcelos de Podesta⁴⁹, Naveen S Vasudev⁵⁰, Marta Vilensky⁵¹, Jonathan Yeung⁵², David Zaridze⁵³, Kazem Zendehdel⁵⁴, Ghislaine Scelo⁵⁵, Estelle Chanudet⁵⁶, Jingwei Wang⁵⁷, Stephen Fitzgerald⁵⁷, Calli Latimer⁵⁷, Sarah Moody⁵⁷, Laura Humphreys⁵⁷, Ludmil B Alexandrov⁵⁸, Michael R Stratton⁵⁷, Paul Brennan⁵⁹

Affiliations

¹ Genomic Epidemiology Branch, International Agency for Research on Cancer (IARC/WHO), Lyon, France.
² Evidence Synthesis and Classification Branch, International Agency for Research on Cancer (IARC/WHO), Lyon, France.
³ Division of Epidemiology, Department of Quantitative Health Sciences, Mayo Clinic, Jacksonville, FL, USA; Division of Gastroenterology and Hepatology, Department of Internal Medicine, Mayo Clinic, Jacksonville, FL, USA.
⁴ Experimental Research Center, Genomic Medicine Laboratory, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Post-Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
⁵ Unit of Biostatistics, Epidemiology and Public Health, Department of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, Padova, Italy.
⁶ Department of Internal Medicine, Chiang Mai University, Chiang Mai, Thailand.
⁷ Ontario Tumour Bank, Ontario Institute for Cancer Research, Toronto, ON, Canada.
⁸ Department of Epidemiology, A.C. Camargo Cancer Center, São Paulo, Brazil.
⁹ Associação de Combate ao Câncer em Goiás Hospital Araújo Jorge Goiânia, Goiânia, Brazil.
¹⁰ University of Malawi College of Medicine, Blantyre, Malawi.
¹¹ Regional Authority of Public Health, Banská Bystrica, Slovakia.
¹² Departments of Surgery and Oncology, McGill University, Montreal, QC, Canada.
¹³ Early Cancer Institute, University of Cambridge, Cambridge, UK.
¹⁴ Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic.
¹⁵ Mount Sinai Hospital; Ontario Institute for Cancer Research (OICR), Toronto, ON, Canada.
¹⁶ Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD, USA.
¹⁷ Institute of Public Health & Preventive Medicine, 2nd Faculty of Medicine, Charles University, Prague, Czech Republic; Department of Oncology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
¹⁸ National Cancer Institute, Bogotá, Colombia.
¹⁹ Faculty of Health Sciences, Palacky University, Olomouc, Czech Republic.
²⁰ Laboratory of Genetic Diagnostic, National Cancer Institute, Vilnius, Lithuania; Department of Botany and Genetics, Institute of Biosciences, Vilnius University, Vilnius, Lithuania.
²¹ Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, Sofia, Bulgaria.
²² Department of Epidemiology, A.C. Camargo Cancer Center, São Paulo, Brazil; University of São Paulo Medical School, São Paulo, Brazil.
²³ Department of Urology, University Hospital Center Zagreb, Zagreb, Croatia; University of Zagreb School of Medicine, Zagreb, Croatia.
²⁴ National and Kapodistrian University of Athens, Athens, Greece.
²⁵ The Maria Sklodowska-Cure National Research Institute of Oncology, Warsaw, Poland.
²⁶ Digestive Disease Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
²⁷ Occupational Health and Toxicology, National Center for Environmental Risk Monitoring, National Institute of Public Health, Bucharest, Romania.
²⁸ Environment and Lifestyle Epidemiology Branch, International Agency for Research on Cancer (IARC/WHO), Lyon, France.
²⁹ Moi University, School of Public Health, Eldoret, Kenya.
³⁰ Division of Molecular Epidemiology and Population Genomics, Centre for Cancer Epidemiology, Tata Memorial Centre, Mumbai, India.
³¹ Department of Surgery, Santa Casa School of Medicine, São Paulo, Brazil.
³² Kilimanjaro Clinical Research Institute, Kilimanjaro Christian Medical Centre & Kilimanjaro Christian Medical University College, Moshi, Tanzania.
³³ Semmelweis University, Budapest, Hungary.
³⁴ IOCPR- International Organization for Cancer Prevention and Research, Serbia, Belgrade.
³⁵ Hellenic Cooperative Oncology Group (HeCOG), Athens, Greece.
³⁶ Centro di Riferimento Oncologico di Aviano (CRO) IRCCS, Aviano, Italy.
³⁷ Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
³⁸ Urology Department, "Carol Davila" University of Medicine and Pharmacy - "Prof. Dr. Th. Burghele" Clinical Hospital, Bucharest, Romania.
³⁹ Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil.
⁴⁰ Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil; Life and Health Sciences Research Institute (ICVS), School of Medicine, Minho University, Braga, Portugal.
⁴¹ Brazilian National Cancer Institute, Rio de Janeiro, Brazil.
⁴² Pathology Department, Hospital Universitario Fundación Santa Fe de Bogotá, Bogotá, Colombia.
⁴³ Translational Medicine Research Center, Faculty of Medicine, Prince of Songkla University, Hat Yai, Thailand.
⁴⁴ National Cancer Institute, Bangkok, Thailand.
⁴⁵ Laboratory of Molecular Medicine, The Institute of Medical Science, The University of Tokyo, Minato-ku, Japan; Division of Cancer Genomics, National Cancer Center Research Institute, Chuo-ku, Japan.
⁴⁶ National Cancer Institute, Kiev, Ukraine.
⁴⁷ Department of Environmental Epidemiology, Nofer Institute of Occupational Medicine, Łódź, Poland.
⁴⁸ Instituto Medicina Traslacional e Ingenieria Biomedica - CONICET, Buenos Aires, Argentina.
⁴⁹ Hospital Santa Rita AFECC - Associação Feminina de Educação e Combate ao Câncer, Vitoria, Brazil.
⁵⁰ Leeds Institute of Medical Research at St James's, University of Leeds, Leeds, UK.
⁵¹ Instituto de Oncología Angel Roffo, Universidad de Buenos Aires, Buenos Aires, Argentina.
⁵² University Health Network, Toronto, ON, Canada.
⁵³ Clinical Epidemiology, N.N. Blokhin National Medical Research Centre of Oncology, Moscow, Russia.
⁵⁴ Cancer Research Center, Cancer Institute, Tehran University of Medical Sciences, Tehran, Iran.
⁵⁵ Observational & Pragmatic Research Institute Pte., Ltd., Singapore, Singapore.
⁵⁶ Department of Pathology, Radboud University Medical Centre, Nijmegen, the Netherlands.
⁵⁷ Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Cambridge, UK.
⁵⁸ Department of Cellular and Molecular Medicine, University of California San Diego, La Jolla, CA, USA; Department of Bioengineering, University of California San Diego, La Jolla, CA, USA; Moores Cancer Center, University of California San Diego, La Jolla, CA, USA.
⁵⁹ Genomic Epidemiology Branch, International Agency for Research on Cancer (IARC/WHO), Lyon, France. Electronic address: brennanp@iarc.who.int.

PMID: 38325367
PMCID: PMC10943582
DOI: 10.1016/j.xgen.2024.100500

Review

The Mutographs biorepository: A unique genomic resource to study cancer around the world

Sandra Perdomo et al. Cell Genom. 2024.

. 2024 Mar 13;4(3):100500.

doi: 10.1016/j.xgen.2024.100500. Epub 2024 Feb 6.

Authors

Affiliations

¹ Genomic Epidemiology Branch, International Agency for Research on Cancer (IARC/WHO), Lyon, France.
² Evidence Synthesis and Classification Branch, International Agency for Research on Cancer (IARC/WHO), Lyon, France.
³ Division of Epidemiology, Department of Quantitative Health Sciences, Mayo Clinic, Jacksonville, FL, USA; Division of Gastroenterology and Hepatology, Department of Internal Medicine, Mayo Clinic, Jacksonville, FL, USA.
⁴ Experimental Research Center, Genomic Medicine Laboratory, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Post-Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
⁵ Unit of Biostatistics, Epidemiology and Public Health, Department of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, Padova, Italy.
⁶ Department of Internal Medicine, Chiang Mai University, Chiang Mai, Thailand.
⁷ Ontario Tumour Bank, Ontario Institute for Cancer Research, Toronto, ON, Canada.
⁸ Department of Epidemiology, A.C. Camargo Cancer Center, São Paulo, Brazil.
⁹ Associação de Combate ao Câncer em Goiás Hospital Araújo Jorge Goiânia, Goiânia, Brazil.
¹⁰ University of Malawi College of Medicine, Blantyre, Malawi.
¹¹ Regional Authority of Public Health, Banská Bystrica, Slovakia.
¹² Departments of Surgery and Oncology, McGill University, Montreal, QC, Canada.
¹³ Early Cancer Institute, University of Cambridge, Cambridge, UK.
¹⁴ Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic.
¹⁵ Mount Sinai Hospital; Ontario Institute for Cancer Research (OICR), Toronto, ON, Canada.
¹⁶ Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD, USA.
¹⁷ Institute of Public Health & Preventive Medicine, 2nd Faculty of Medicine, Charles University, Prague, Czech Republic; Department of Oncology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
¹⁸ National Cancer Institute, Bogotá, Colombia.
¹⁹ Faculty of Health Sciences, Palacky University, Olomouc, Czech Republic.
²⁰ Laboratory of Genetic Diagnostic, National Cancer Institute, Vilnius, Lithuania; Department of Botany and Genetics, Institute of Biosciences, Vilnius University, Vilnius, Lithuania.
²¹ Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University of Sofia, Sofia, Bulgaria.
²² Department of Epidemiology, A.C. Camargo Cancer Center, São Paulo, Brazil; University of São Paulo Medical School, São Paulo, Brazil.
²³ Department of Urology, University Hospital Center Zagreb, Zagreb, Croatia; University of Zagreb School of Medicine, Zagreb, Croatia.
²⁴ National and Kapodistrian University of Athens, Athens, Greece.
²⁵ The Maria Sklodowska-Cure National Research Institute of Oncology, Warsaw, Poland.
²⁶ Digestive Disease Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
²⁷ Occupational Health and Toxicology, National Center for Environmental Risk Monitoring, National Institute of Public Health, Bucharest, Romania.
²⁸ Environment and Lifestyle Epidemiology Branch, International Agency for Research on Cancer (IARC/WHO), Lyon, France.
²⁹ Moi University, School of Public Health, Eldoret, Kenya.
³⁰ Division of Molecular Epidemiology and Population Genomics, Centre for Cancer Epidemiology, Tata Memorial Centre, Mumbai, India.
³¹ Department of Surgery, Santa Casa School of Medicine, São Paulo, Brazil.
³² Kilimanjaro Clinical Research Institute, Kilimanjaro Christian Medical Centre & Kilimanjaro Christian Medical University College, Moshi, Tanzania.
³³ Semmelweis University, Budapest, Hungary.
³⁴ IOCPR- International Organization for Cancer Prevention and Research, Serbia, Belgrade.
³⁵ Hellenic Cooperative Oncology Group (HeCOG), Athens, Greece.
³⁶ Centro di Riferimento Oncologico di Aviano (CRO) IRCCS, Aviano, Italy.
³⁷ Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
³⁸ Urology Department, "Carol Davila" University of Medicine and Pharmacy - "Prof. Dr. Th. Burghele" Clinical Hospital, Bucharest, Romania.
³⁹ Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil.
⁴⁰ Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil; Life and Health Sciences Research Institute (ICVS), School of Medicine, Minho University, Braga, Portugal.
⁴¹ Brazilian National Cancer Institute, Rio de Janeiro, Brazil.
⁴² Pathology Department, Hospital Universitario Fundación Santa Fe de Bogotá, Bogotá, Colombia.
⁴³ Translational Medicine Research Center, Faculty of Medicine, Prince of Songkla University, Hat Yai, Thailand.
⁴⁴ National Cancer Institute, Bangkok, Thailand.
⁴⁵ Laboratory of Molecular Medicine, The Institute of Medical Science, The University of Tokyo, Minato-ku, Japan; Division of Cancer Genomics, National Cancer Center Research Institute, Chuo-ku, Japan.
⁴⁶ National Cancer Institute, Kiev, Ukraine.
⁴⁷ Department of Environmental Epidemiology, Nofer Institute of Occupational Medicine, Łódź, Poland.
⁴⁸ Instituto Medicina Traslacional e Ingenieria Biomedica - CONICET, Buenos Aires, Argentina.
⁴⁹ Hospital Santa Rita AFECC - Associação Feminina de Educação e Combate ao Câncer, Vitoria, Brazil.
⁵⁰ Leeds Institute of Medical Research at St James's, University of Leeds, Leeds, UK.
⁵¹ Instituto de Oncología Angel Roffo, Universidad de Buenos Aires, Buenos Aires, Argentina.
⁵² University Health Network, Toronto, ON, Canada.
⁵³ Clinical Epidemiology, N.N. Blokhin National Medical Research Centre of Oncology, Moscow, Russia.
⁵⁴ Cancer Research Center, Cancer Institute, Tehran University of Medical Sciences, Tehran, Iran.
⁵⁵ Observational & Pragmatic Research Institute Pte., Ltd., Singapore, Singapore.
⁵⁶ Department of Pathology, Radboud University Medical Centre, Nijmegen, the Netherlands.
⁵⁷ Cancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Cambridge, UK.
⁵⁸ Department of Cellular and Molecular Medicine, University of California San Diego, La Jolla, CA, USA; Department of Bioengineering, University of California San Diego, La Jolla, CA, USA; Moores Cancer Center, University of California San Diego, La Jolla, CA, USA.
⁵⁹ Genomic Epidemiology Branch, International Agency for Research on Cancer (IARC/WHO), Lyon, France. Electronic address: brennanp@iarc.who.int.

PMID: 38325367
PMCID: PMC10943582
DOI: 10.1016/j.xgen.2024.100500

Abstract

Large-scale biorepositories and databases are essential to generate equitable, effective, and sustainable advances in cancer prevention, early detection, cancer therapy, cancer care, and surveillance. The Mutographs project has created a large genomic dataset and biorepository of over 7,800 cancer cases from 30 countries across five continents with extensive demographic, lifestyle, environmental, and clinical information. Whole-genome sequencing is being finalized for over 4,000 cases, with the primary goal of understanding the causes of cancer at eight anatomic sites. Genomic, exposure, and clinical data will be publicly available through the International Cancer Genome Consortium Accelerating Research in Genomic Oncology platform. The Mutographs sample and metadata biorepository constitutes a legacy resource for new projects and collaborations aiming to increase our current research efforts in cancer genomic epidemiology globally.

PubMed Disclaimer

Conflict of interest statement

Declaration of interests M.R.S. is founder of, consultant to, and stockholder in Quotient Therapeutics. L.B.A. is a compensated consultant and has equity interest in io9, LLC, and Genome Insight. His spouse is an employee of Biotheranostics, Inc. L.B.A. is also an inventor of a US patent 10,776,718 for source identification by non-negative matrix factorization. L.B.A. declares US provisional applications with serial numbers 63/289,601; 63/269,033; and 63/483,237. L.B.A. also declares US provisional applications with serial numbers 63/366,392; 63/367,846; 63/412,835; and 63/492,348.

Figures

**Figure 1**
Geographical distribution of Pan-Cancer Analysis of Whole Genomes (PCAWG) study

**Figure 2**
Geographical distribution of Mutographs cancer studies with complete whole-genome sequencing Mutographs cases correspond to those that passed the quality controls for eligibility, tissue and blood processing, and sequencing. White circles represent cities where cases were recruited: Argentina: Buenos Aires; Brazil: Barretos, Goiania, Porto Alegre, Rio de Janeiro, Sao Paulo, and Vitoria; Bulgaria: Sofia; Canada: Montreal and Toronto; China: Shanxi; Colombia: Bogotá; Croatia: Zagreb; Czech Republic: Brno, Ceske Budejovice, Olomouc, and Prague; Greece: Athens; Hungary: Budapest; India: Mumbai; Iran: Gonbad, Gorgan, Kerman, and Tehran; Italy: Aviano and Padova; Japan: Tokyo; Kenya: Eldoret; Lithuania: Vilnius; Malawi: Blantyre; Poland: Lodz and Warsaw; Romania: Bucharest; Russia: Moscow; Serbia: Belgrade; Slovakia: Banska Bystrica; South Africa: Cape Town; Tanzania: Moshi; Thailand: Bangkok, Chiang Mai, and Hat Yai; Ukraine: Kiev; UK: Cambridge and Leeds; and US: Rochester.

**Figure 3**
Summary of cancer subsites included in the Mutographs biorepository by known and suspected risk factors and differences of incidence by regions Age-standardized rates (ASRs) retrieved from *Cancer Incidence in Five Continents*, *Vol. XI*. AA, aristolochic acid; HPV, human papillomavirus. Created with BioRender.com.

See this image and copyright information in PMC

References

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The Mutographs biorepository: A unique genomic resource to study cancer around the world

Affiliations

The Mutographs biorepository: A unique genomic resource to study cancer around the world

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Medical