Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures.
第一作者:
Peter,Georgeson
第一单位:
Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Parkville, VIC, 3010, Australia.;University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC, 3010, Australia.
作者:
Peter,Georgeson [1]
;
Tabitha A,Harrison [2]
;
Bernard J,Pope [3]
;
Syed H,Zaidi [4]
;
Conghui,Qu [2]
;
Robert S,Steinfelder [2]
;
Yi,Lin [2]
;
Jihoon E,Joo [1]
;
Khalid,Mahmood [3]
;
Mark,Clendenning [1]
;
Romy,Walker [1]
;
Efrat L,Amitay [5]
;
Sonja I,Berndt [6]
;
Hermann,Brenner [7]
;
Peter T,Campbell [8]
;
Yin,Cao [9]
;
Andrew T,Chan [10]
;
Jenny,Chang-Claude [11]
;
Kimberly F,Doheny [12]
;
David A,Drew [13]
;
Jane C,Figueiredo [14]
;
Amy J,French [15]
;
Steven,Gallinger [16]
;
Marios,Giannakis [17]
;
Graham G,Giles [18]
;
Andrea,Gsur [19]
;
Marc J,Gunter [20]
;
Michael,Hoffmeister [5]
;
Li,Hsu [21]
;
Wen-Yi,Huang [6]
;
Paul,Limburg [22]
;
JoAnn E,Manson [23]
;
Victor,Moreno [24]
;
Rami,Nassir [25]
;
Jonathan A,Nowak [26]
;
Mireia,Obón-Santacana [27]
;
Shuji,Ogino [28]
;
Amanda I,Phipps [29]
;
John D,Potter [30]
;
Robert E,Schoen [31]
;
Wei,Sun [2]
;
Amanda E,Toland [32]
;
Quang M,Trinh [4]
;
Tomotaka,Ugai [33]
;
Finlay A,Macrae [34]
;
Christophe,Rosty [35]
;
Thomas J,Hudson [4]
;
Mark A,Jenkins [36]
;
Stephen N,Thibodeau [15]
;
Ingrid M,Winship [37]
;
Ulrike,Peters [29]
;
Daniel D,Buchanan [38]
作者单位:
Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Parkville, VIC, 3010, Australia.;University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC, 3010, Australia.
[1]
Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
[2]
Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Parkville, VIC, 3010, Australia.;University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC, 3010, Australia.;Melbourne Bioinformatics, The University of Melbourne, Carlton, VIC, Australia.
[3]
Ontario Institute for Cancer Research, Toronto, ON, Canada.
[4]
Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
[5]
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
[6]
Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.;Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Heidelberg, Germany.;German Cancer Consortium (DKTK), German Cancer Research Center(DKFZ), Heidelberg, Germany.
[7]
Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY, USA.
[8]
Division of Public Health Sciences, Department of Surgery, Washington University School of Medicine, St Louis, MO, USA.;Alvin J. Siteman Cancer Center at Barnes-Jewish Hospital and Washington University School of Medicine, St. Louis, MO, USA.;Division of Gastroenterology, Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA.
[9]
Clinical and Translational Epidemiology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.;Division of Gastroenterology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.;Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.;Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.;Department of Immunology and Infectious Diseases, Harvard T.H. Chan School of Public Health, Harvard University, Boston, MA, USA.
[10]
Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.;University Medical Centre Hamburg-Eppendorf, University Cancer Centre Hamburg (UCCH), Hamburg, Germany.
[11]
Center for Inherited Disease Research (CIDR), Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
[12]
Clinical and Translational Epidemiology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.;Division of Gastroenterology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
[13]
Department of Medicine, Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.;Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
[14]
Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
[15]
Ontario Institute for Cancer Research, Toronto, ON, Canada.;Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.
[16]
Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.;Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
[17]
Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, VIC, Australia.;Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia.;Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, Australia.
[18]
Institute of Cancer Research, Department of Medicine I, Medical University Vienna, Vienna, Austria.
[19]
Nutrition and Metabolism Branch, International Agency for Research on Cancer, World Health Organization, Lyon, France.
[20]
Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.;Department of Biostatistics, University of Washington, Seattle, WA, USA.
[21]
Division of Gastroenterology & Hepatology, Mayo Clinic, Rochester, MN, USA.
[22]
Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.;Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
[23]
Oncology Data Analytics Program, Catalan Institute of Oncology-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.;CIBER Epidemiología y Salud Pública (CIBERESP), Madrid, Spain.;Department of Clinical Sciences, Faculty of Medicine, University of Barcelona, Barcelona, Spain.;ONCOBEL Program, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
[24]
Department of Pathology, College of Medicine, Umm Al-Qura University, Mecca, Saudi Arabia.
[25]
Program in MPE Molecular Pathological Epidemiology, Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
[26]
Oncology Data Analytics Program, Catalan Institute of Oncology-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.;CIBER Epidemiología y Salud Pública (CIBERESP), Madrid, Spain.
[27]
Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.;Program in MPE Molecular Pathological Epidemiology, Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.;Cancer Immunology Program, Dana-Farber Harvard Cancer Center, Boston, MA, USA.
[28]
Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.;Department of Epidemiology, University of Washington, Seattle, WA, USA.
[29]
Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.;Research Centre for Hauora and Health, Massey University, Wellington, New Zealand.
[30]
Department of Medicine and Epidemiology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
[31]
Departments of Cancer Biology and Genetics and Internal Medicine, Comprehensive Cancer Center, The Ohio State University, Columbus, OH, USA.
[32]
Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.;Program in MPE Molecular Pathological Epidemiology, Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
[33]
Parkville Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC, Australia.;Colorectal Medicine and Genetics, Royal Melbourne Hospital, Parkville, VIC, Australia.;Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, VIC, Australia.
[34]
Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Parkville, VIC, 3010, Australia.;University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC, 3010, Australia.;Envoi Specialist Pathologists, Brisbane, QLD, Australia.;University of Queensland, Brisbane, QLD, Australia.
[35]
University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC, 3010, Australia.;Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia.
[36]
Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, VIC, Australia.;Department of Medicine, The University of Melbourne, Parkville, VIC, Australia.
[37]
Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Parkville, VIC, 3010, Australia. daniel.buchanan@unimelb.edu.au.;University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC, 3010, Australia. daniel.buchanan@unimelb.edu.au.;Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Parkville, VIC, Australia. daniel.buchanan@unimelb.edu.au.
[38]
医学主题词
结直肠肿瘤(Colorectal Neoplasms);DNA糖基化酶类(DNA Glycosylases);DNA突变分析(DNA Mutational Analysis);疾病遗传易感性(Genetic Predisposition to Disease);生殖细胞系突变(Germ-Line Mutation);杂合子(Heterozygote);人类(Humans);突变(Mutation)
DOI
10.1038/s41467-022-30916-1
PMID
35668106
发布时间
2025-05-30
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Nature communications
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