Nature Communications (Jun 2022)
Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures
- Peter Georgeson,
- Tabitha A. Harrison,
- Bernard J. Pope,
- Syed H. Zaidi,
- Conghui Qu,
- Robert S. Steinfelder,
- Yi Lin,
- Jihoon E. Joo,
- Khalid Mahmood,
- Mark Clendenning,
- Romy Walker,
- Efrat L. Amitay,
- Sonja I. Berndt,
- Hermann Brenner,
- Peter T. Campbell,
- Yin Cao,
- Andrew T. Chan,
- Jenny Chang-Claude,
- Kimberly F. Doheny,
- David A. Drew,
- Jane C. Figueiredo,
- Amy J. French,
- Steven Gallinger,
- Marios Giannakis,
- Graham G. Giles,
- Andrea Gsur,
- Marc J. Gunter,
- Michael Hoffmeister,
- Li Hsu,
- Wen-Yi Huang,
- Paul Limburg,
- JoAnn E. Manson,
- Victor Moreno,
- Rami Nassir,
- Jonathan A. Nowak,
- Mireia Obón-Santacana,
- Shuji Ogino,
- Amanda I. Phipps,
- John D. Potter,
- Robert E. Schoen,
- Wei Sun,
- Amanda E. Toland,
- Quang M. Trinh,
- Tomotaka Ugai,
- Finlay A. Macrae,
- Christophe Rosty,
- Thomas J. Hudson,
- Mark A. Jenkins,
- Stephen N. Thibodeau,
- Ingrid M. Winship,
- Ulrike Peters,
- Daniel D. Buchanan
Affiliations
- Peter Georgeson
- Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne
- Tabitha A. Harrison
- Public Health Sciences Division, Fred Hutchinson Cancer Research Center
- Bernard J. Pope
- Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne
- Syed H. Zaidi
- Ontario Institute for Cancer Research
- Conghui Qu
- Public Health Sciences Division, Fred Hutchinson Cancer Research Center
- Robert S. Steinfelder
- Public Health Sciences Division, Fred Hutchinson Cancer Research Center
- Yi Lin
- Public Health Sciences Division, Fred Hutchinson Cancer Research Center
- Jihoon E. Joo
- Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne
- Khalid Mahmood
- Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne
- Mark Clendenning
- Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne
- Romy Walker
- Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne
- Efrat L. Amitay
- Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ)
- Sonja I. Berndt
- Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health
- Hermann Brenner
- Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ)
- Peter T. Campbell
- Department of Epidemiology and Population Health, Albert Einstein College of Medicine
- Yin Cao
- Division of Public Health Sciences, Department of Surgery, Washington University School of Medicine
- Andrew T. Chan
- Clinical and Translational Epidemiology Unit, Massachusetts General Hospital and Harvard Medical School
- Jenny Chang-Claude
- Division of Cancer Epidemiology, German Cancer Research Center (DKFZ)
- Kimberly F. Doheny
- Center for Inherited Disease Research (CIDR), Department of Genetic Medicine, Johns Hopkins University School of Medicine
- David A. Drew
- Clinical and Translational Epidemiology Unit, Massachusetts General Hospital and Harvard Medical School
- Jane C. Figueiredo
- Department of Medicine, Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center
- Amy J. French
- Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
- Steven Gallinger
- Ontario Institute for Cancer Research
- Marios Giannakis
- Broad Institute of MIT and Harvard
- Graham G. Giles
- Cancer Epidemiology Division, Cancer Council Victoria
- Andrea Gsur
- Institute of Cancer Research, Department of Medicine I, Medical University Vienna
- Marc J. Gunter
- Nutrition and Metabolism Branch, International Agency for Research on Cancer, World Health Organization
- Michael Hoffmeister
- Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ)
- Li Hsu
- Public Health Sciences Division, Fred Hutchinson Cancer Research Center
- Wen-Yi Huang
- Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health
- Paul Limburg
- Division of Gastroenterology & Hepatology, Mayo Clinic
- JoAnn E. Manson
- Department of Epidemiology, Harvard T.H. Chan School of Public Health
- Victor Moreno
- Oncology Data Analytics Program, Catalan Institute of Oncology-IDIBELL, L’Hospitalet de Llobregat
- Rami Nassir
- Department of Pathology, College of Medicine, Umm Al-Qura University
- Jonathan A. Nowak
- Program in MPE Molecular Pathological Epidemiology, Department of Pathology, Brigham and Women’s Hospital, Harvard Medical School
- Mireia Obón-Santacana
- Oncology Data Analytics Program, Catalan Institute of Oncology-IDIBELL, L’Hospitalet de Llobregat
- Shuji Ogino
- Broad Institute of MIT and Harvard
- Amanda I. Phipps
- Public Health Sciences Division, Fred Hutchinson Cancer Research Center
- John D. Potter
- Public Health Sciences Division, Fred Hutchinson Cancer Research Center
- Robert E. Schoen
- Department of Medicine and Epidemiology, University of Pittsburgh Medical Center
- Wei Sun
- Public Health Sciences Division, Fred Hutchinson Cancer Research Center
- Amanda E. Toland
- Departments of Cancer Biology and Genetics and Internal Medicine, Comprehensive Cancer Center, The Ohio State University
- Quang M. Trinh
- Ontario Institute for Cancer Research
- Tomotaka Ugai
- Department of Epidemiology, Harvard T.H. Chan School of Public Health
- Finlay A. Macrae
- Parkville Familial Cancer Centre, Royal Melbourne Hospital
- Christophe Rosty
- Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne
- Thomas J. Hudson
- Ontario Institute for Cancer Research
- Mark A. Jenkins
- University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre
- Stephen N. Thibodeau
- Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic
- Ingrid M. Winship
- Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital
- Ulrike Peters
- Public Health Sciences Division, Fred Hutchinson Cancer Research Center
- Daniel D. Buchanan
- Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne
- DOI
- https://doi.org/10.1038/s41467-022-30916-1
- Journal volume & issue
-
Vol. 13,
no. 1
pp. 1 – 12
Abstract
Germline biallelic pathogenic MUTYH variants predispose patients to colorectal cancer (CRC); however, approaches to identify MUTYH variant carriers are lacking. Here, the authors evaluated mutational signatures that could distinguish MUTYH carriers in large CRC cohorts, and found MUTYH-associated somatic mutations.
