REFERENCES
1. Chronic lymphocytic leukemia - Cancer Stat Facts. Available from: https://seer.cancer.gov/statfacts/html/clyl.html. [Last accessed on 21 May 2021].
2. Goldin LR, Pfeiffer RM, Li X, Hemminki K. Familial risk of lymphoproliferative tumors in families of patients with chronic lymphocytic leukemia: results from the Swedish Family-Cancer Database. Blood 2004;104:1850-4.
3. Kerber RA, O'Brien E. A cohort study of cancer risk in relation to family histories of cancer in the Utah population database. Cancer 2005;103:1906-15.
4. Slager SL, Caporaso NE, de Sanjose S, Goldin LR. Genetic susceptibility to chronic lymphocytic leukemia. Semin Hematol 2013;50:296-302.
5. Goldin LR, Ishibe N, Sgambati M, et al. A genome scan of 18 families with chronic lymphocytic leukaemia. Br J Haematol 2003;121:866-73.
6. Sellick GS, Webb EL, Allinson R, et al. A high-density SNP genomewide linkage scan for chronic lymphocytic leukemia-susceptibility loci. Am J Hum Genet 2005;77:420-9.
7. Sellick GS, Goldin LR, Wild RW, et al. A high-density SNP genome-wide linkage search of 206 families identifies susceptibility loci for chronic lymphocytic leukemia. Blood 2007;110:3326-33.
8. Raval A, Tanner SM, Byrd JC, et al. Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia. Cell 2007;129:879-90.
9. Fuller SJ, Papaemmanuil E, McKinnon L, et al. Analysis of a large multi-generational family provides insight into the genetics of chronic lymphocytic leukemia. Br J Haematol 2008;142:238-45.
10. Goldin LR, McMaster ML, Rotunno M, et al. Whole exome sequencing in families with CLL detects a variant in Integrin β 2 associated with disease susceptibility. Blood 2016;128:2261-3.
11. Speedy HE, Kinnersley B, Chubb D, et al. Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia. Blood 2016;128:2319-26.
12. Blackburn NB, Marthick JR, Banks A, et al. Evaluating a CLL susceptibility variant in ITGB2 in families with multiple subtypes of hematological malignancies. Blood 2017;130:86-8.
13. Brown JR, Hanna M, Tesar B, et al. Germline copy number variation associated with Mendelian inheritance of CLL in two families. Leukemia 2012;26:1710-3.
14. Hanson HA, Leiser CL, Madsen MJ, et al. Family study designs informed by tumor heterogeneity and multi-cancer pleiotropies: the power of the Utah Population Database. Cancer Epidemiol Biomarkers Prev 2020;29:807-15.
15. Waller RG, Darlington TM, Wei X, et al. Novel pedigree analysis implicates DNA repair and chromatin remodeling in multiple myeloma risk. PLoS Genet 2018;14:e1007111.
16. Glenn MJ, Madsen MJ, Davis E, et al. Elevated IgM and abnormal free light chain ratio are increased in relatives from high-risk chronic lymphocytic leukemia pedigrees. Blood Cancer J 2019;9:25.
17. Knight S, Abo RP, Abel HJ, et al. Shared genomic segment analysis: the power to find rare disease variants. Ann Hum Genet 2012;76:500-9.
18. Auton A, Brooks LD, Durbin RM. The 1000 Genomes Project Consortium. A global reference for human genetic variation. Nature 2015;526:68-74.
19. Purcell S, Chang C. PLINK 1.9. Available from: https://www.cog-genomics.org/plink/1.9/. [Last accessed on 21 May 2021].
20. Chang CC, Chow CC, Tellier LC, Vattikuti S, Purcell SM, Lee JJ. Second-generation PLINK: rising to the challenge of larger and richer datasets. Gigascience 2015;4:7.
21. Wigginton JE, Cutler DJ, Abecasis GR. A note on exact tests of Hardy-Weinberg equilibrium. Am J Hum Genet 2005;76:887-93.
22. Graffelman J, Moreno V. The mid p-value in exact tests for Hardy-Weinberg equilibrium. Stat Appl Genet Mol Biol 2013;12:433-48.
23. Thomas A, Camp NJ, Farnham JM, Allen-Brady K, Cannon-Albright LA. Shared genomic segment analysis. Mapping disease predisposition genes in extended pedigrees using SNP genotype assays. Ann Hum Genet 2008;72:279-87.
24. Matise TC, Chen F, Chen W, et al. A second-generation combined linkage physical map of the human genome. Genome Res 2007;17:1783-6.
25. Lander E, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 1995;11:241-7.
26. Uhlén M, Fagerberg L, Hallström BM, et al. Proteomics. Tissue-based map of the human proteome. Science 2015;347:1260419.
27. Thul PJ, Åkesson L, Wiking M, et al. A subcellular map of the human proteome. Science 2017;356:eaal3321.
28. The Human Protein Atlas. Available from: https://www.proteinatlas.org/. [Last accessed 21 May 2021].
29. Assays and annotation - The Human Protein Atlas. Available from: https://www.proteinatlas.org/about/assays+annotation#hpa_rna. [Last accessed 21 May 2021].
30. Möhle R, Failenschmid C, Bautz F, Kanz L. Overexpression of the chemokine receptor CXCR4 in B cell chronic lymphocytic leukemia is associated with increased functional response to stromal cell-derived factor-1 (SDF-1). Leukemia 1999;13:1954-9.
31. Burger JA, Kipps TJ. Chemokine receptors and stromal cells in the homing and homeostasis of chronic lymphocytic leukemia B cells. Leuk Lymphoma 2002;43:461-6.
32. Schmidt J, Federmann B, Schindler N, et al. MYD88 L265P and CXCR4 mutations in lymphoplasmacytic lymphoma identify cases with high disease activity. Br J Haematol 2015;169:795-803.
33. Ghobrial IM, Bone ND, Stenson MJ, et al. Expression of the chemokine receptors CXCR4 and CCR7 and disease progression in B-cell chronic lymphocytic leukemia/ small lymphocytic lymphoma. Mayo Clin Proc 2004;79:318-25.
34. Ganghammer S, Gutjahr J, Hutterer E, et al. Combined CXCR3/CXCR4 measurements are of high prognostic value in chronic lymphocytic leukemia due to negative co-operativity of the receptors. Haematologica 2016;101:e99-102.
35. Ishibe N, Albitar M, Jilani IB, Goldin LR, Marti GE, Caporaso NE. CXCR4 expression is associated with survival in familial chronic lymphocytic leukemia, but CD38 expression is not. Blood 2002;100:1100-1.
36. Puente XS, Beà S, Valdés-Mas R, et al. Non-coding recurrent mutations in chronic lymphocytic leukaemia. Nature 2015;526:519-24.
37. Acunzo M, Romano G, Wernicke D, et al. Translocation t(2;11) in CLL cells results in CXCR4/MAML2 fusion oncogene. Blood 2014;124:259-62.
38. Redondo-Muñoz J, García-Pardo A, Teixidó J. Molecular players in hematologic tumor cell trafficking. Front Immunol 2019;10:156.
39. Kriston C, Plander M, Márk Á, et al. In contrast to high CD49d, low CXCR4 expression indicates the dependency of chronic lymphocytic leukemia (CLL) cells on the microenvironment. Ann Hematol 2018;97:2145-52.
40. Hacken E, Burger JA. Microenvironment dependency in Chronic Lymphocytic Leukemia: The basis for new targeted therapies. Pharmacol Ther 2014;144:338-48.
41. Pavlasova G, Borsky M, Seda V, et al. Ibrutinib inhibits CD20 upregulation on CLL B cells mediated by the CXCR4/SDF-1 axis. Blood 2016;128:1609-13.
42. Martini V, Gattazzo C, Frezzato F, et al. Cortactin, a Lyn substrate, is a checkpoint molecule at the intersection of BCR and CXCR4 signalling pathway in chronic lymphocytic leukaemia cells. Br J Haematol 2017;178:81-93.
43. Kashyap MK, Kumar D, Jones H, et al. Ulocuplumab (BMS-936564 / MDX1338): a fully human anti-CXCR4 antibody induces cell death in chronic lymphocytic leukemia mediated through a reactive oxygen species-dependent pathway. Oncotarget 2016;7:2809-22.
44. Secchiero P, Voltan R, Rimondi E, et al. The γ-secretase inhibitors enhance the anti-leukemic activity of ibrutinib in B-CLL cells. Oncotarget 2017;8:59235-45.
45. Shaim H, Estrov Z, Harris D, et al. The CXCR4-STAT3-IL-10 pathway controls the immunoregulatory function of chronic lymphocytic leukemia and is modulated by lenalidomide. Front Immunol 2017;8:1773.
46. Treon SP, Tripsas CK, Meid K, et al. Ibrutinib in previously treated Waldenström's macroglobulinemia. N Engl J Med 2015;372:1430-40.
47. Chatterjee S, Behnam Azad B, Nimmagadda S. . The intricate role of CXCR4 in cancer. In: Pomper MG, Fisher PB, editors. Emerging applications of molecular imaging to oncology. Amsterdam: Elsevier; 2014. p. 31-82.
48. Scala S. Molecular pathways: targeting the CXCR4-CXCL12 axis--untapped potential in the tumor microenvironment. Clin Cancer Res 2015;21:4278-85.
49. Lee Y, Yoon KA, Joo J, et al. Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study. Carcinogenesis 2013;34:307-13.
50. Enjuanes A, Benavente Y, Bosch F, et al. Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia. Cancer Res 2008;68:10178-86.
51. Crowther-Swanepoel D, Qureshi M, Dyer MJ, et al. Genetic variation in CXCR4 and risk of chronic lymphocytic leukemia. Blood 2009;114:4843-6.
52. Milanesi S, Locati M, Borroni EM. Aberrant CXCR4 signaling at crossroad of WHIM syndrome and Waldenstrom's macroglobulinemia. Int J Mol Sci 2020;21:5696.
