Page 250 - 2021_02-Haematologica-web

M.M. Ouseph et al.
31. Li MM, Datto M, Duncavage EJ, et al.
Standards and guidelines for the interpreta- tion and reporting of sequence variants in cancer: a joint consensus recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. J Mol Diagn. 2017;19(1):4-23.
32. Malcovati L, Galli A, Travaglino E, et al. Clinical significance of somatic mutation in unexplained blood cytopenia. Blood. 2017;129(25):3371-3378.
33. Hasserjian RP, Head DR. Myelodysplastic syndromes. In: Jaffe EA, Arber DA; Campo E; Harris, NL; Quintanilla-Martinez, L, edi- tors Hematopathology. Second edition Elsevier, Inc. 2017:793-815.
34. Nowinski GP, Van Dyke DL, Tilley BC, et al. The frequency of aneuploidy in cultured lymphocytes is correlated with age and gen- der but not with reproductive history. Am J Hum Genet. 1990;46(6):1101-1111.
35. Forsberg LA, Halvardson J, Rychlicka- Buniowska E, et al. Mosaic loss of chromo- some Y in leukocytes matters. Nat Genet. 2019;51(1):4-7.
36. Haitjema S, Kofink D, van Setten J, et al. Loss of Y chromosome in blood is associated with major cardiovascular events during follow-up in men after carotid endarterectomy. Circ Cardiovasc Genet. 2017;10(4): e001544.
37. Lleo A, Oertelt-Prigione S, Bianchi I, et al. Y chromosome loss in male patients with pri- mary biliary cirrhosis. J Autoimmun. 2013;41:87-91.
38. Persani L, Bonomi M, Lleo A, et al. Increased loss of the Y chromosome in peripheral blood cells in male patients with autoim- mune thyroiditis. J Autoimmun. 2012;38(2- 3):J193-196.
39. Forsberg LA, Rasi C, Malmqvist N, et al. Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer. Nat Genet. 2014;46(6):624-628.
40. Charchar FJ, Bloomer LD, Barnes TA, et al. Inheritance of coronary artery disease in men: an analysis of the role of the Y chro- mosome. Lancet. 2012;379(9819):915-922.
41. Grassmann F, Kiel C, den Hollander AI, et al. Y chromosome mosaicism is associated with age-related macular degeneration. Eur J Hum Genet. 2019;27(1):36-41.
42. Grassmann F, International AMDGC, Weber BHF, Veitia RA. Insights into the loss of the Y chromosome with age in control individ- uals and in patients with age-related macular
degeneration using genotyping microarray
data. Hum Genet. 2020;139(3):401-407. 43.Dumanski JP, Lambert JC, Rasi C, et al. Mosaic loss of chromosome Y in blood is associated with Alzheimer disease. Am J
Hum Genet. 2016;98(6):1208-1219.
44. Forsberg LA. Loss of chromosome Y (LOY) in blood cells is associated with increased risk for disease and mortality in aging men.
Hum Genet. 2017;136(5):657-663.
45. Loftfield E, Zhou W, Graubard BI, et al. Predictors of mosaic chromosome Y loss and associations with mortality in the UK
Biobank. Sci Rep. 2018;8(1):12316.
46. Veiga LC, Bergamo NA, Reis PP, Kowalski LP, Rogatto SR. Loss of Y-chromosome does not correlate with age at onset of head and neck carcinoma: a case-control study. Braz J
Med Biol Res. 2012;45(2):172-178.
47. Noveski P, Madjunkova S, Sukarova Stefanovska E, et al. Loss of Y chromosome in peripheral blood of colorectal and prostate cancer patients. PLoS One.
2016;11(1):e0146264.
48. Kido T, Lau YF. Roles of the Y chromosome
genes in human cancers. Asian J Androl.
2015;17(3):373-380.
49. Hunter S, Gramlich T, Abbott K, Varma V. Y
chromosome loss in esophageal carcinoma: an in situ hybridization study. Genes Chromosomes Cancer. 1993;8(3):172-177.
50. Park SJ, Jeong SY, Kim HJ. Y chromosome loss and other genomic alterations in hepa- tocellular carcinoma cell lines analyzed by CGH and CGH array. Cancer Genet Cytogenet. 2006;166(1):56-64.
51. Cook MB, McGlynn KA, Devesa SS, Freedman ND, Anderson WF. Sex disparities in cancer mortality and survival. Cancer Epidemiol Biomarkers Prev. 2011;20(8): 1629-1637.
52. Edgren G, Liang L, Adami HO, Chang ET. Enigmatic sex disparities in cancer inci- dence. Eur J Epidemiol. 2012;27(3):187-196.
53. Davoli T, Xu AW, Mengwasser KE, et al. Cumulative haploinsufficiency and triplosensitivity drive aneuploidy patterns and shape the cancer genome. Cell. 2013;155 (4):948-962.
54. Minner S, Kilgue A, Stahl P, et al. Y chromo- some loss is a frequent early event in urothe- lial bladder cancer. Pathology. 2010;42(4): 356-359.
55. Wallrapp C, Hahnel S, Boeck W, et al. Loss of the Y chromosome is a frequent chromo- somal imbalance in pancreatic cancer and allows differentiation to chronic pancreati-
tis. Int J Cancer. 2001;91(3):340-344.
56. Klatte T, Rao PN, de Martino M, et al. Cytogenetic profile predicts prognosis of patients with clear cell renal cell carcinoma.
J Clin Oncol. 2009;27(5):746-753.
57. Bianchi NO. Y chromosome structural and functional changes in human malignant dis-
eases. Mutat Res 2009;682(1):21-27.
58. Germing U, Strupp C, Giagounidis A, et al. Evaluation of dysplasia through detailed cytomorphology in 3156 patients from the Dusseldorf Registry on myelodysplastic
syndromes. Leuk Res. 2012;36(6):727-734. 59. Maassen A, Strupp C, Giagounidis A, et al. Validation and proposals for a refinement of the WHO 2008 classification of myelodys- plastic syndromes without excess of blasts.
Leuk Res. 2013;37(1):64-70.
60. Duijf PH, Schultz N, Benezra R. Cancer cells
preferentially lose small chromosomes. Int J
Cancer. 2013;132(10):2316-2326.
61. Machiela MJ, Zhou W, Karlins E, et al. Female chromosome X mosaicism is age- related and preferentially affects the inacti- vated X chromosome. Nat Commun.
2016;7:11843.
62. Stone JF, Sandberg AA. Sex chromosome
aneuploidy and aging. Mutat Res. 1995;338
(1-6):107-113.
63.Dumanski JP, Rasi C, Lonn M, et al.
Mutagenesis. Smoking is associated with mosaic loss of chromosome Y. Science. 2015;347(6217):81-83.
64. Kersemaekers AM, Honecker F, Stoop H, et al. Identification of germ cells at risk for neo- plastic transformation in gonadoblastoma: an immunohistochemical study for OCT3/4 and TSPY. Hum Pathol. 2005;36(5):512-521.
65. Li Y, Tabatabai ZL, Lee TL, et al. The Y- encoded TSPY protein: a significant marker potentially plays a role in the pathogenesis of testicular germ cell tumors. Hum Pathol. 2007;38(10):1470-1481.
66. Vijayakumar S, Garcia D, Hensel CH, et al. The human Y chromosome suppresses the tumorigenicity of PC-3, a human prostate cancer cell line, in athymic nude mice. Genes Chromosomes Cancer. 2005;44(4): 365-372.
67. Schneider-Gadicke A, Beer-Romero P, Brown LG, Nussbaum R, Page DC. ZFX has a gene structure similar to ZFY, the putative human sex determinant, and escapes X inac- tivation. Cell. 1989;57(7):1247-1258.
68. Hasle H. Turner syndrome and myelodys- plastic syndrome. No reason to alert. J Pediatr Hematol Oncol. 1997;19(2):179.
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