DOI: 10.1038/ng.2271

¤ OpenAccess: Green

This work has “Green” OA status. This means it may cost money to access on the publisher landing page, but there is a free copy in an OA repository.

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

Cathy C. Laurie,Cecelia Laurie,Kenneth Rice,Kimberly F. Doheny,Leila R. Zelnick,Caitlin McHugh,Hua Ling,Kurt N. Hetrick,Elizabeth Pugh,Chris Amos,Qingyi Wei,Lie Wang,Jeffrey E. Lee,Kathleen C. Barnes,Nadia N. Hansel,Rasika A. Mathias,Denise Daley,Terri H. Beaty,Alan F. Scott,Ingo Ruczinski,Rob Scharpf,Laura J. Bierut,Sarah M. Hartz,Maria Teresa Landi,Neal D. Freedman,Lynn R. Goldin,David Ginsburg,Jun Li,Karl C. Desch,Sara S. Strom,William J. Blot,Lisa B. Signorello,Sue A. Ingles,Stephen J. Chanock,Sonja I. Berndt,Loı̈c Le Marchand,Brian E. Henderson,Kristine R. Monroe,John A. Heit,Mariza de Andrade,Sebastian M. Armasu,C Régnier,William L. Lowe,M. Geoffrey Hayes,Mary L. Marazita,Eleanor Feingold,Jeffrey C. Murray,Mads Melbye,Bjarke Feenstra,Jae H. Kang,Janey L. Wiggs,Gail P. Jarvik,Andrew McDavid,Venkatraman Seshan,Daniel B. Mirel,Andrew Crenshaw,Nataliya Sharopova,Anastasia L. Wise,Jess Shen,David R. Crosslin,David Levine,Xiuwen Zheng,Jenna Udren,Siiri N. Bennett,Sarah C. Nelson,Stephanie M. Gogarten,Matthew P. Conomos,Patrick J. Heagerty,Teri A. Manolio,Louis R. Pasquale,Christopher A. Haiman,Neil E. Caporaso,Bruce S. Weir

Biology

Uniparental disomy

SNP array

2012

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).

Cite this:

Generate Citation

“Detectable clonal mosaicism from birth to old age and its relationship to cancer” is a paper by Cathy C. Laurie Cecelia Laurie Kenneth Rice Kimberly F. Doheny Leila R. Zelnick Caitlin McHugh Hua Ling Kurt N. Hetrick Elizabeth Pugh Chris Amos Qingyi Wei Lie Wang Jeffrey E. Lee Kathleen C. Barnes Nadia N. Hansel Rasika A. Mathias Denise Daley Terri H. Beaty Alan F. Scott Ingo Ruczinski Rob Scharpf Laura J. Bierut Sarah M. Hartz Maria Teresa Landi Neal D. Freedman Lynn R. Goldin David Ginsburg Jun Li Karl C. Desch Sara S. Strom William J. Blot Lisa B. Signorello Sue A. Ingles Stephen J. Chanock Sonja I. Berndt Loı̈c Le Marchand Brian E. Henderson Kristine R. Monroe John A. Heit Mariza de Andrade Sebastian M. Armasu C Régnier William L. Lowe M. Geoffrey Hayes Mary L. Marazita Eleanor Feingold Jeffrey C. Murray Mads Melbye Bjarke Feenstra Jae H. Kang Janey L. Wiggs Gail P. Jarvik Andrew McDavid Venkatraman Seshan Daniel B. Mirel Andrew Crenshaw Nataliya Sharopova Anastasia L. Wise Jess Shen David R. Crosslin David Levine Xiuwen Zheng Jenna Udren Siiri N. Bennett Sarah C. Nelson Stephanie M. Gogarten Matthew P. Conomos Patrick J. Heagerty Teri A. Manolio Louis R. Pasquale Christopher A. Haiman Neil E. Caporaso Bruce S. Weir published in 2012. It has an Open Access status of “green”. You can read and download a PDF Full Text of this paper here.