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. 2016 Nov 3;128(18):2261-2263.
doi: 10.1182/blood-2016-02-697771. Epub 2016 Sep 14.

Whole exome sequencing in families with CLL detects a variant in Integrin β 2 associated with disease susceptibility

Lynn R Goldin  1 , Mary L McMaster  1 , Melissa Rotunno  2 , Sarah E M Herman  3 , Kristine Jones  4 , Bin Zhu  4 , Joseph Boland  4 , Laurie Burdett  4 , Belynda Hicks  4 , Sarangan Ravichandran  5 , Brian T Luke  5 , Meredith Yeager  4 , Laura Fontaine  6 , Alisa M Goldstein  1 , Stephen J Chanock  7 , Margaret A Tucker  8 , Adrian Wiestner  3 , Gerald Marti  9 , Neil E Caporaso  1
Affiliations

Whole exome sequencing in families with CLL detects a variant in Integrin β 2 associated with disease susceptibility

Lynn R Goldin et al. Blood. .
No abstract available

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Figures

Figure 1
Figure 1
Gene identification in CLL families in a 3-phase study.
Figure 2
Figure 2
Analyses of CD18 expression on B cells and T cells of mutation carriers and noncarriers. Peripheral blood mononuclear cells were stained as previously described with the following antibodies: anti–CD19-allophycocyanin, anti–CD5–phycoerythrin cyanine dye (to identify the CLL cell population), anti–CD3-fluorescein isothiocyanate (to identify the T-cell population) and one of the following phycoerythrin-conjugated antibodies: anti–immunoglobulin G1-isotype control or anti-CD18 (BD Biosciences, Franklin Lakes, NJ). Each sample was run in duplicate. Cells were analyzed on a fluorescence-activated cell sorter (FACS) Canto II flow cytometer (BD Biosciences) using FACS-DIVA 6.1.1 and FlowJo software (Version 8.8.6; TreeStar, Ashland, OR). (A) Expression of CD18 in B cells of representative normal individual (black line), CLL patient without CD18 mutation (blue line), and CLL patient with CD18 mutation (red line). (B) Expression of CD18 in B cells of 9 CLL patients (with CD18 mutation), 25 CLL patients without CD18 mutation, and 10 unaffected individuals. (C) Expression of CD18 in T cells of 9 CLL patients (with CD18 mutation), 25 CLL patients without CD18 mutation, and 10 unaffected individuals.
See this image and copyright information in PMC

Comment in

  • Analysis of ITGB2 rare germ line variants in chronic lymphocytic leukemia.
    Tiao G, Improgo MR, Tausch E, Fernandes SM, Bahlo J, Robrecht S, Fischer K, Hallek M, Stilgenbauer S, Kiezun A, Getz G, Brown JR. Tiao G, et al. Blood. 2017 Nov 30;130(22):2443-2444. doi: 10.1182/blood-2017-08-800128. Epub 2017 Oct 19. Blood. 2017. PMID: 29051179 Free PMC article. No abstract available.

References

    1. Howlander N, Noone AM, Krapcho M, et al. SEER Cancer Statistics Review, 1975-2012, vol. 2015. Bethesda, MD: National Cancer Institute; 2015.
    1. Goldin LR, Landgren O, Marti GE, Caporaso NE. Familial aspects of chronic lymphocytic leukemia, monoclonal B-cell lymphocytosis (MBL), and related lymphomas. European J Clin Med Oncol. 2010;2(1):119-126. - PMC - PubMed
    1. Berndt SI, Skibola CF, Joseph V, et al. Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. Nat Genet. 2013;45(8):868-876. - PMC - PubMed
    1. Di Bernardo MC, Broderick P, Catovsky D, Houlston RS. Common genetic variation contributes significantly to the risk of developing chronic lymphocytic leukemia. Haematologica. 2013;98(3):e23-e24. - PMC - PubMed
    1. Rotunno M, McMaster ML, Boland J, et al. NCI DCEG Cancer Sequencing Working Group; NCI DCEG Cancer Genomics Research Laboratory. Whole exome sequencing in families at high risk for Hodgkin lymphoma: identification of a predisposing mutation in the KDR gene. Haematologica. 2016;101(7):853–860. - PMC - PubMed

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