Journal article
Detectable clonal mosaicism from birth to old age and its relationship to cancer
Nature genetics, Vol.44(6), pp.642-650
06/2012
DOI: 10.1038/ng.2271
PMCID: PMC3366033
PMID: 22561516
Abstract
Clonal mosaicism for large chromosomal anomalies (duplications, deletions and uniparental disomy) was detected using SNP microarray data from over 50,000 subjects recruited for genome-wide association studies. This detection method requires a relatively high frequency of cells (>5–10%) with the same abnormal karyotype (presumably of clonal origin) in the presence of normal cells. The frequency of detectable clonal mosaicism in peripheral blood is low (<0.5%) from birth until 50 years of age, after which it rises rapidly to 2–3% in the elderly. Many of the mosaic anomalies are characteristic of those found in hematological cancers and identify common deleted regions that pinpoint the locations of genes previously associated with hematological cancers. Although only 3% of subjects with detectable clonal mosaicism had any record of hematological cancer prior to DNA sampling, those without a prior diagnosis have an estimated 10-fold higher risk of a subsequent hematological cancer (95% confidence interval = 6–18).
Details
- Title: Subtitle
- Detectable clonal mosaicism from birth to old age and its relationship to cancer
- Creators
- Cathy C Laurie - Department of Biostatistics, University of Washington, Seattle, WACecelia A Laurie - Department of Biostatistics, University of Washington, Seattle, WAKenneth Rice - Department of Biostatistics, University of Washington, Seattle, WAKimberly F Doheny - The Center for Inherited Disease Research, Johns Hopkins University, Baltimore, MDLeila R Zelnick - Department of Biostatistics, University of Washington, Seattle, WACaitlin P McHugh - Department of Biostatistics, University of Washington, Seattle, WAHua Ling - The Center for Inherited Disease Research, Johns Hopkins University, Baltimore, MDKurt N Hetrick - The Center for Inherited Disease Research, Johns Hopkins University, Baltimore, MDElizabeth W Pugh - The Center for Inherited Disease Research, Johns Hopkins University, Baltimore, MDChris Amos - Department of Epidemiology, Division of Cancer Prevention and Population Sciences, The University of Texas MD Anderson Cancer Center, Houston, TXQingyi Wei - Department of Epidemiology, Division of Cancer Prevention and Population Sciences, The University of Texas MD Anderson Cancer Center, Houston, TXLi-e Wang - Department of Epidemiology, Division of Cancer Prevention and Population Sciences, The University of Texas MD Anderson Cancer Center, Houston, TXJeffrey E Lee - Department of Surgical Oncology, Division of Surgery, The University of Texas MD Anderson Cancer Center, Houston, TXKathleen C Barnes - Department of Medicine, School of Medicine, Johns Hopkins University, Baltimore, MDNadia N Hansel - Department of Medicine, School of Medicine, Johns Hopkins University, Baltimore, MDRasika Mathias - Department of Medicine, School of Medicine, Johns Hopkins University, Baltimore, MDDenise Daley - Department of Medicine, University of British Columbia, Vancouver, BCTerri H Beaty - Department of Epidemiology, School of Public Health, Johns Hopkins University, Baltimore, MDAlan F Scott - Institute of Genetic Medicine, School of Medicine, Johns Hopkins University, Baltimore, MDIngo Ruczinski - Department of Biostatistics, Johns Hopkins University, Baltimore, MDRob B Scharpf - Department of Oncology, Johns Hopkins University, Baltimore, MDLaura J Bierut - Department of Psychiatry, School of Medicine, Washington University School of Medicine, St Louis, MissouriSarah M Hartz - Department of Psychiatry, School of Medicine, Washington University School of Medicine, St Louis, MissouriMaria Teresa Landi - Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MDNeal D Freedman - Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MDLynn R Goldin - Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MDDavid Ginsburg - Howard Hughes Medical Institute, University of Michigan, Ann Arbor, MIJun Li - Department of Human Genetics, University of Michigan, Ann Arbor, MIKarl C Desch - Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MISara S Strom - Department of Epidemiology, The University of Texas M. D. Anderson Cancer Center, Houston, TXWilliam J Blot - Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt University, Nashville, TNLisa B Signorello - Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt University, Nashville, TNSue A Ingles - Department of Preventive Medicine, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CAStephen J Chanock - Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MDSonja I Berndt - Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MDLoic Le Marchand - Epidemiology Program, Cancer Research Center, University of Hawaii, Honolulu, HIBrian E Henderson - Department of Preventive Medicine, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CAKristine R Monroe - Department of Preventive Medicine, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CAJohn A Heit - Department of Internal Medicine, Mayo Clinic, Rochester, MNMariza de Andrade - Department of Health Sciences Research, Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MNSebastian M Armasu - Department of Health Sciences Research, Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MNCynthia Regnier - Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MNWilliam L Lowe - Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University, Chicago, ILM. Geoffrey Hayes - Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University, Chicago, ILMary L Marazita - Center for Craniofacial and Dental Genetics, Department of Oral Biology School of Dental Medicine, University of Pittsburgh, Pittsburgh, PAEleanor Feingold - Department of Human Genetics, University of Pittsburgh, Pittsburgh, PAJeffrey C Murray - Department of Pediatrics, University of Iowa, Iowa City, IAMads Melbye - Department of Epidemiology Research, Statens Serum Institut, Copenhagen, DenmarkBjarke Feenstra - Department of Epidemiology Research, Statens Serum Institut, Copenhagen, DenmarkJae H Kang - Department of Medicine, Brigham and Women’s Hospital, Boston, MAJaney L Wiggs - Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MAGail P Jarvik - Division of Medical Genetics, University of Washington, Seattle, WAAndrew N McDavid - Cancer Prevention Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WAVenkatraman E Seshan - Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NYDaniel B Mirel - Broad Institute (MIT/Harvard), Cambridge, MAAndrew Crenshaw - Broad Institute (MIT/Harvard), Cambridge, MANataliya Sharopova - National Center for Biotechnology Information, Bethesda, MDAnastasia Wise - Office of Population Genomics, National Human Genome Research Institute at National Institutes of Health, Bethesda, MDJess Shen - Department of Biostatistics, University of Washington, Seattle, WADavid R Crosslin - Department of Biostatistics, University of Washington, Seattle, WADavid M Levine - Department of Biostatistics, University of Washington, Seattle, WAXiuwen Zheng - Department of Biostatistics, University of Washington, Seattle, WAJenna I Udren - Department of Biostatistics, University of Washington, Seattle, WASiiri Bennett - Department of Biostatistics, University of Washington, Seattle, WASarah C Nelson - Department of Biostatistics, University of Washington, Seattle, WAStephanie M Gogarten - Department of Biostatistics, University of Washington, Seattle, WAMatthew P Conomos - Department of Biostatistics, University of Washington, Seattle, WAPatrick Heagerty - Department of Biostatistics, University of Washington, Seattle, WATeri Manolio - Office of Population Genomics, National Human Genome Research Institute at National Institutes of Health, Bethesda, MDLouis R Pasquale - Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MAChristopher A Haiman - Department of Preventive Medicine, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CANeil Caporaso - Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MDBruce S Weir - Department of Biostatistics, University of Washington, Seattle, WA
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.44(6), pp.642-650
- DOI
- 10.1038/ng.2271
- PMID
- 22561516
- PMCID
- PMC3366033
- NLM abbreviation
- Nat Genet
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Language
- English
- Date published
- 06/2012
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025478902771
Metrics
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