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

Publication ,  Journal Article
Laurie, CC; Laurie, CA; Rice, K; Doheny, KF; Zelnick, LR; McHugh, CP; Ling, H; Hetrick, KN; Pugh, EW; Amos, C; Wei, Q; Wang, L-E; Lee, JE ...
Published in: Nat Genet
May 6, 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).

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Published In

Nat Genet

DOI

EISSN

1546-1718

Publication Date

May 6, 2012

Volume

44

Issue

6

Start / End Page

642 / 650

Location

United States

Related Subject Headings

  • Neoplasms
  • Mosaicism
  • Middle Aged
  • Male
  • Infant, Newborn
  • Infant
  • Humans
  • Genome-Wide Association Study
  • Female
  • Developmental Biology
 

Citation

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Laurie, C. C., Laurie, C. A., Rice, K., Doheny, K. F., Zelnick, L. R., McHugh, C. P., … Weir, B. S. (2012). Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nat Genet, 44(6), 642–650. https://doi.org/10.1038/ng.2271
Laurie, Cathy C., Cecelia A. Laurie, Kenneth Rice, Kimberly F. Doheny, Leila R. Zelnick, Caitlin P. McHugh, Hua Ling, et al. “Detectable clonal mosaicism from birth to old age and its relationship to cancer.Nat Genet 44, no. 6 (May 6, 2012): 642–50. https://doi.org/10.1038/ng.2271.
Laurie CC, Laurie CA, Rice K, Doheny KF, Zelnick LR, McHugh CP, et al. Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nat Genet. 2012 May 6;44(6):642–50.
Laurie, Cathy C., et al. “Detectable clonal mosaicism from birth to old age and its relationship to cancer.Nat Genet, vol. 44, no. 6, May 2012, pp. 642–50. Pubmed, doi:10.1038/ng.2271.
Laurie CC, Laurie CA, Rice K, Doheny KF, Zelnick LR, McHugh CP, Ling H, Hetrick KN, Pugh EW, Amos C, Wei Q, Wang L-E, Lee JE, Barnes KC, Hansel NN, Mathias R, Daley D, Beaty TH, Scott AF, Ruczinski I, Scharpf RB, Bierut LJ, Hartz SM, Landi MT, Freedman ND, Goldin LR, Ginsburg D, Li J, Desch KC, Strom SS, Blot WJ, Signorello LB, Ingles SA, Chanock SJ, Berndt SI, Le Marchand L, Henderson BE, Monroe KR, Heit JA, de Andrade M, Armasu SM, Regnier C, Lowe WL, Hayes MG, Marazita ML, Feingold E, Murray JC, Melbye M, Feenstra B, Kang JH, Wiggs JL, Jarvik GP, McDavid AN, Seshan VE, Mirel DB, Crenshaw A, Sharopova N, Wise A, Shen J, Crosslin DR, Levine DM, Zheng X, Udren JI, Bennett S, Nelson SC, Gogarten SM, Conomos MP, Heagerty P, Manolio T, Pasquale LR, Haiman CA, Caporaso N, Weir BS. Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nat Genet. 2012 May 6;44(6):642–650.

Published In

Nat Genet

DOI

EISSN

1546-1718

Publication Date

May 6, 2012

Volume

44

Issue

6

Start / End Page

642 / 650

Location

United States

Related Subject Headings

  • Neoplasms
  • Mosaicism
  • Middle Aged
  • Male
  • Infant, Newborn
  • Infant
  • Humans
  • Genome-Wide Association Study
  • Female
  • Developmental Biology