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

Journal Article (Journal Article)

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).

Full Text

Duke Authors

Cited Authors

  • 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

Published Date

  • May 6, 2012

Published In

Volume / Issue

  • 44 / 6

Start / End Page

  • 642 - 650

PubMed ID

  • 22561516

Pubmed Central ID

  • 22561516

Electronic International Standard Serial Number (EISSN)

  • 1546-1718

Digital Object Identifier (DOI)

  • 10.1038/ng.2271


  • eng

Conference Location

  • United States