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. 2017 Oct;31(10):2244-2247.
doi: 10.1038/leu.2017.201. Epub 2017 Jun 27.

Rare germline variants in ATM are associated with chronic lymphocytic leukemia

G Tiao  1 , M R Improgo  1   2   3 , S Kasar  1   2   3 , W Poh  1   2   3 , A Kamburov  1 , D-A Landau  1   2   3 , E Tausch  4 , A Taylor-Weiner  1 , C Cibulskis  1 , S Bahl  1 , S M Fernandes  2 , K Hoang  2 , E Rheinbay  1 , H T Kim  5 , J Bahlo  6 , S Robrecht  6 , K Fischer  6 , M Hallek  6 , S Gabriel  1 , E S Lander  1 , S Stilgenbauer  4 , C J Wu  1   2   3 , A Kiezun  1 , G Getz  1   7   8 , J R Brown  1   2   3
Affiliations

Rare germline variants in ATM are associated with chronic lymphocytic leukemia

G Tiao et al. Leukemia. 2017 Oct.
No abstract available

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Conflict of interest statement

Conflict of Interest: No potential conflicts of interest were disclosed.

Figures

Figure 1
Figure 1. CLL patients harbor multiple ATM lesions: germline variants, somatic mutations, and loss of heterozygosity
A. Rare germline variants in ATM are enriched in CLL cases (discovery cohort). Variants found in CLL cases are displayed with the total number of cases (above the protein track) and controls (below), along with the corresponding percentages in their respective cohorts. B. Additional rare germline variants in ATM were observed in the extension cohort. C. Co-occurrence of ATM lesions in a total of 646 patient samples: rare germline variants (top row), loss-of-heterozygosity (middle row), and non-synonymous somatic mutations (bottom row). Samples are arranged along the x-axis (unlabeled). Presence of the genetic lesion is indicated in red, absence of the lesion is marked by grey. Missing data are displayed in black. Samples with copy-neutral LOH are indicated by purple boxes; the remaining LOH events are 11q deletions. Percentages of samples with somatic ATM events are labeled in parentheses for the patient cohorts with germline and no germline ATM events, respectively. Data for samples with no known germline or somatic ATM events (359 patients) are not shown to scale due to space limitations.
See this image and copyright information in PMC

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