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Detectable clonal mosaicism from birth to old age and its relationship to cancer.

dc.contributor.author Wei, Qingyi
dc.contributor.author Laurie, Cathy C
dc.contributor.author Laurie, Cecelia A
dc.contributor.author Rice, Kenneth
dc.contributor.author Doheny, Kimberly F
dc.contributor.author Zelnick, Leila R
dc.contributor.author McHugh, Caitlin P
dc.contributor.author Ling, Hua
dc.contributor.author Hetrick, Kurt N
dc.contributor.author Pugh, Elizabeth W
dc.contributor.author Amos, Chris
dc.contributor.author Wang, Li-e
dc.contributor.author Lee, Jeffrey E
dc.contributor.author Barnes, Kathleen C
dc.contributor.author Hansel, Nadia N
dc.contributor.author Mathias, Rasika
dc.contributor.author Daley, Denise
dc.contributor.author Beaty, Terri H
dc.contributor.author Scott, Alan F
dc.contributor.author Ruczinski, Ingo
dc.contributor.author Scharpf, Rob B
dc.contributor.author Bierut, Laura J
dc.contributor.author Hartz, Sarah M
dc.contributor.author Landi, Maria Teresa
dc.contributor.author Freedman, Neal D
dc.contributor.author Goldin, Lynn R
dc.contributor.author Ginsburg, David
dc.contributor.author Li, Jun
dc.contributor.author Desch, Karl C
dc.contributor.author Strom, Sara S
dc.contributor.author Blot, William J
dc.contributor.author Signorello, Lisa B
dc.contributor.author Ingles, Sue A
dc.contributor.author Chanock, Stephen J
dc.contributor.author Berndt, Sonja I
dc.contributor.author Le Marchand, Loic
dc.contributor.author Henderson, Brian E
dc.contributor.author Monroe, Kristine R
dc.contributor.author Heit, John A
dc.contributor.author de Andrade, Mariza
dc.contributor.author Armasu, Sebastian M
dc.contributor.author Regnier, Cynthia
dc.contributor.author Lowe, William L
dc.contributor.author Hayes, M Geoffrey
dc.contributor.author Marazita, Mary L
dc.contributor.author Feingold, Eleanor
dc.contributor.author Murray, Jeffrey C
dc.contributor.author Melbye, Mads
dc.contributor.author Feenstra, Bjarke
dc.contributor.author Kang, Jae H
dc.contributor.author Wiggs, Janey L
dc.contributor.author Jarvik, Gail P
dc.contributor.author McDavid, Andrew N
dc.contributor.author Seshan, Venkatraman E
dc.contributor.author Mirel, Daniel B
dc.contributor.author Crenshaw, Andrew
dc.contributor.author Sharopova, Nataliya
dc.contributor.author Wise, Anastasia
dc.contributor.author Shen, Jess
dc.contributor.author Crosslin, David R
dc.contributor.author Levine, David M
dc.contributor.author Zheng, Xiuwen
dc.contributor.author Udren, Jenna I
dc.contributor.author Bennett, Siiri
dc.contributor.author Nelson, Sarah C
dc.contributor.author Gogarten, Stephanie M
dc.contributor.author Conomos, Matthew P
dc.contributor.author Heagerty, Patrick
dc.contributor.author Manolio, Teri
dc.contributor.author Pasquale, Louis R
dc.contributor.author Haiman, Christopher A
dc.contributor.author Caporaso, Neil
dc.contributor.author Weir, Bruce S
dc.date.accessioned 2019-02-01T15:10:14Z
dc.date.available 2019-02-01T15:10:14Z
dc.date.issued 2012-05-06
dc.identifier ng.2271
dc.identifier.issn 1061-4036
dc.identifier.issn 1546-1718
dc.identifier.uri https://hdl.handle.net/10161/17978
dc.description.abstract We detected clonal mosaicism for large chromosomal anomalies (duplications, deletions and uniparental disomy) 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 with the same abnormal karyotype (>5-10%; 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 rapidly rises to 2-3% in the elderly. Many of the mosaic anomalies are characteristic of those found in hematological cancers and identify common deleted regions with genes previously associated with these cancers. Although only 3% of subjects with detectable clonal mosaicism had any record of hematological cancer before DNA sampling, those without a previous diagnosis have an estimated tenfold higher risk of a subsequent hematological cancer (95% confidence interval = 6-18).
dc.language eng
dc.publisher Springer Nature
dc.relation.ispartof Nature genetics
dc.relation.isversionof 10.1038/ng.2271
dc.subject Humans
dc.subject Neoplasms
dc.subject Chromosome Aberrations
dc.subject Chromosome Mapping
dc.subject Aging
dc.subject Mosaicism
dc.subject Adolescent
dc.subject Adult
dc.subject Aged
dc.subject Aged, 80 and over
dc.subject Middle Aged
dc.subject Child
dc.subject Child, Preschool
dc.subject Infant
dc.subject Infant, Newborn
dc.subject Female
dc.subject Male
dc.subject Genome-Wide Association Study
dc.subject DNA Copy Number Variations
dc.title Detectable clonal mosaicism from birth to old age and its relationship to cancer.
dc.type Journal article
duke.contributor.id Wei, Qingyi|0632334
dc.date.updated 2019-02-01T15:10:12Z
pubs.begin-page 642
pubs.end-page 650
pubs.issue 6
pubs.organisational-group School of Medicine
pubs.organisational-group Duke
pubs.organisational-group Duke Cancer Institute
pubs.organisational-group Institutes and Centers
pubs.organisational-group Population Health Sciences
pubs.organisational-group Basic Science Departments
pubs.organisational-group Medicine, Medical Oncology
pubs.organisational-group Medicine
pubs.organisational-group Clinical Science Departments
pubs.publication-status Published
pubs.volume 44
duke.contributor.orcid Wei, Qingyi|0000-0002-3845-9445


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