Heritability of hematologic malignancies: From pedigrees to genomics

Hematology/Oncology Clinics of North America

Volumn 24, Issue 5, 2010, Pages 939-972

  Churpek, Jane E ^a   Onel, Kenan ^a  

^a UNIVERSITY OF CHICAGO   (United States)

Author keywords

Familial; Genetics; Genomics; Leukemia; Lymphoma

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 1B; CYCLIN DEPENDENT KINASE INHIBITOR 2A; CYCLIN DEPENDENT KINASE INHIBITOR 2B; INTERLEUKIN 12; INTERLEUKIN 6; JANUS KINASE 2; MICRORNA; MULTIDRUG RESISTANCE PROTEIN 1; TRANSCRIPTION FACTOR RUNX1;

ACUTE GRANULOCYTIC LEUKEMIA; ACUTE LYMPHOBLASTIC LEUKEMIA; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; CANCER RISK; CANCER SUSCEPTIBILITY; CARCINOGENESIS; CHRONIC LYMPHATIC LEUKEMIA; FAMILIAL CANCER; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HEMATOLOGIC MALIGNANCY; HODGKIN DISEASE; HUMAN; IMMUNE DEFICIENCY; IMMUNOREGULATION; JUVENILE MYELOMONOCYTIC LEUKEMIA; LINKAGE ANALYSIS; MULTIPLE MYELOMA; MYELODYSPLASTIC SYNDROME; MYELOPROLIFERATIVE DISORDER; NONHODGKIN LYMPHOMA; PEDIGREE; PRIORITY JOURNAL; PROLYMPHOCYTIC LEUKEMIA; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

GENETIC TESTING; GENOMICS; HEMATOLOGIC NEOPLASMS; HUMANS; NEOPLASTIC SYNDROMES, HEREDITARY; PEDIGREE;

EID: 77956337095     PISSN: 08898588     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hoc.2010.06.001     Document Type: Review

References (199)

1. Segel G.B., Lichtman M.A. Familial (inherited) leukemia, lymphoma, and myeloma: an overview. Blood Cells Mol Dis 2004, 32(1):246-261.
2. Horwitz M. The genetics of familial leukemia. Leukemia 1997, 11(8):1347-1359.
3. Gunz F.W., Gunz J.P., Veale A.M., et al. Familial leukaemia: a study of 909 families. Scand J Haematol 1975, 15(2):117-131.
4. Goldgar D.E., Easton D.F., Cannon-Albright L.A., et al. Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands. J Natl Cancer Inst 1994, 86(21):1600-1608.
5. Goldin L.R., Landgren O., McMaster M.L., et al. Familial aggregation and heterogeneity of non-Hodgkin lymphoma in population-based samples. Cancer Epidemiol Biomarkers Prev 2005, 14(10):2402-2406.
6. Gunz F., Dameshek W. Chronic lymphocytic leukemia in a family, including twin brothers and a son. J Am Med Assoc 1957, 164(12):1323-1325.
7. Fraumeni J.F., Vogel C.L., DeVita V.T. Familial chronic lymphocytic leukemia. Ann Intern Med 1969, 71(2):279-284.
8. Dameshek W, Savitz HA, Arbor B Chronic Lymphatic leukemia in Twin Brothers Aged 56. JAMA 1929, 92:1348-1349.
9. Sellick G.S., Goldin L.R., Wild R.W., et al. A high-density SNP genome-wide linkage search of 206 families identifies susceptibility loci for chronic lymphocytic leukemia. Blood 2007, 110(9):3326-3333.
10. Jonsson V., Houlston R.S., Catovsky D., et al. CLL family 'Pedigree 14' revisited: 1947-2004. Leukemia 2005, 19(6):1025-1028.
11. Fuller S.J., 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(2):238-245.
12. Goldin L.R., Bjorkholm M., Kristinsson S.Y., et al. Elevated risk of chronic lymphocytic leukemia and other indolent non-Hodgkin's lymphomas among relatives of patients with chronic lymphocytic leukemia. Haematologica 2009, 94(5):647-653.
13. Pottern L.M., Linet M., Blair A., et al. Familial cancers associated with subtypes of leukemia and non-Hodgkin's lymphoma. Leuk Res 1991, 15(5):305-314.
14. Amundadottir L.T., Thorvaldsson S., Gudbjartsson D.F., et al. Cancer as a complex phenotype: pattern of cancer distribution within and beyond the nuclear family. PLoS Med 2004, 1(3):e65.
15. Raval A., Tanner S.M., Byrd J.C., et al. Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia. Cell 2007, 129(5):879-890.
16. Goldin L.R., Ishibe N., Sgambati M., et al. A genome scan of 18 families with chronic lymphocytic leukaemia. Br J Haematol 2003, 121(6):866-873.
17. Sellick G.S., Webb E.L., Allinson R., et al. A high-density SNP genomewide linkage scan for chronic lymphocytic leukemia-susceptibility loci. Am J Hum Genet 2005, 77(3):420-429.
18. Ng D., Marti G.E., Fontaine L., et al. High-density mapping and follow-up studies on chromosomal regions 1, 3, 6, 12, 13 and 17 in 28 families with chronic lymphocytic leukaemia. Br J Haematol 2006, 133(1):59-61.
19. Dohner H., Stilgenbauer S., Benner A., et al. Genomic aberrations and survival in chronic lymphocytic leukemia. N Engl J Med 2000, 343(26):1910-1916.
20. Reddy K.S. Chronic lymphocytic leukaemia profiled for prognosis using a fluorescence in situ hybridisation panel. Br J Haematol 2006, 132(6):705-722.
21. Rush L.J., Raval A., Funchain P., et al. Epigenetic profiling in chronic lymphocytic leukemia reveals novel methylation targets. Cancer Res 2004, 64(7):2424-2433.
22. Raval A., Byrd J.C., Plass C. Epigenetics in chronic lymphocytic leukemia. Semin Oncol 2006, 33(2):157-166.
23. 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(24):10178-10186.
24. Rudd M.F., Sellick G.S., Webb E.L., et al. Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia. Blood 2006, 108(2):638-644.
25. Zintzaras E., Kitsios G.D. Synopsis and synthesis of candidate-gene association studies in chronic lymphocytic leukemia: the CUMAGAS-CLL information system. Am J Epidemiol 2009, 170(6):671-678.
26. Crowther-Swanepoel D., Houlston R.S. The molecular basis of familial chronic lymphocytic leukemia. Haematologica 2009, 94(5):606-609.
27. Di Bernardo M.C., Crowther-Swanepoel D., Broderick P., et al. A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia. Nat Genet 2008, 40(10):1204-1210.
28. Yendamuri S., Calin G.A. The role of microRNA in human leukemia: a review. Leukemia 2009, 23(7):1257-1263.
29. Croce C.M. Causes and consequences of microRNA dysregulation in cancer. Nat Rev Genet 2009, 10(10):704-714.
30. Calin G.A., Ferracin M., Cimmino A., et al. A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia. N Engl J Med 2005, 353(17):1793-1801.
31. Calin G.A., Dumitru C.D., Shimizu M., et al. Frequent deletions and down-regulation of micro- RNA genes miR15 and miR16 at 13q14 in chronic lymphocytic leukemia. Proc Natl Acad Sci U S A 2002, 99(24):15524-15529.
32. Dasanu C.A., Alexandrescu D.T. Risk for second nonlymphoid neoplasms in chronic lymphocytic leukemia. MedGenMed 2007, 9(4):35.
33. Rawstron A.C., Bennett F.L., O'Connor S.J., et al. Monoclonal B-cell lymphocytosis and chronic lymphocytic leukemia. N Engl J Med 2008, 359(6):575-583.
34. Rawstron A.C., Yuille M.R., Fuller J., et al. Inherited predisposition to CLL is detectable as subclinical monoclonal B-lymphocyte expansion. Blood 2002, 100(7):2289-2290.
35. Gribben J.G. How I treat CLL upfront. Blood 2010, 115(2):187-197.
36. Punnett A., Tsang R.W., Hodgson D.C. Hodgkin lymphoma across the age spectrum: epidemiology, therapy, and late effects. Semin Radiat Oncol 2010, 20(1):30-44.
37. Goldin L.R., Pfeiffer R.M., Gridley G., et al. Familial aggregation of Hodgkin lymphoma and related tumors. Cancer 2004, 100(9):1902-1908.
38. Kerber R.A., O'Brien E. A cohort study of cancer risk in relation to family histories of cancer in the Utah population database. Cancer 2005, 103(9):1906-1915.
39. Mack T.M., Cozen W., Shibata D.K., et al. Concordance for Hodgkin's disease in identical twins suggesting genetic susceptibility to the young-adult form of the disease. N Engl J Med 1995, 332(7):413-418.
40. Grufferman S., Cole P., Smith P.G., et al. Hodgkin's disease in siblings. N Engl J Med 1977, 296(5):248-250.
41. Kerzin-Storrar L., Faed M.J., MacGillivray J.B., et al. Incidence of familial Hodgkin's disease. Br J Cancer 1983, 47(5):707-712.
42. Altieri A., Hemminki K. The familial risk of Hodgkin's lymphoma ranks among the highest in the Swedish family-cancer database. Leukemia 2006, 20(11):2062-2063.
43. Goldin L.R., McMaster M.L., Ter-Minassian M., et al. A genome screen of families at high risk for Hodgkin lymphoma: evidence for a susceptibility gene on chromosome 4. J Med Genet 2005, 42(7):595-601.
44. Horwitz M., Wiernik P.H. Pseudoautosomal linkage of Hodgkin disease. Am J Hum Genet 1999, 65(5):1413-1422.
45. Horwitz M.S., Mealiffe M.E. Further evidence for a pseudoautosomal gene for Hodgkin's lymphoma: reply to 'The familial risk of Hodgkin's lymphoma ranks among the highest in the Swedish Family-Cancer Database' by Altieri A and Hemminki K. Leukemia 2007, 21(2):351.
46. Shears D.J., Endris V., Gokhale D.A., et al. Pseudoautosomal linkage of familial Hodgkin's lymphoma: molecular analysis of a unique family with Leri-Weill dyschondrosteosis and Hodgkins lymphoma. Br J Haematol 2003, 121(2):377-379.
47. Kim S.H., Choi E.Y., Shin Y.K., et al. Generation of cells with Hodgkin's and Reed-Sternberg phenotype through downregulation of CD99 (Mic2). Blood 1998, 92(11):4287-4295.
48. Oudejans J.J., Jiwa N.M., Kummer J.A., et al. Analysis of major histocompatibility complex class I expression on Reed-Sternberg cells in relation to the cytotoxic T-cell response in Epstein-Barr virus-positive and -negative Hodgkin's disease. Blood 1996, 87(9):3844-3851.
49. Diepstra A., Niens M., te Meerman G.J., et al. Genetic susceptibility to Hodgkin's lymphoma associated with the human leukocyte antigen region. Eur J Haematol Suppl 2005, (66):34-41.
50. Harty L.C., Lin A.Y., Goldstein A.M., et al. HLA-DR, HLA-DQ, and TAP genes in familial Hodgkin disease. Blood 2002, 99(2):690-693.
51. Klitz W., Aldrich C.L., Fildes N., et al. Localization of predisposition to Hodgkin disease in the HLA class II region. Am J Hum Genet 1994, 54(3):497-505.
52. Diepstra A., Niens M., Vellenga E., et al. Association with HLA class I in Epstein-Barr-virus-positive and with HLA class III in Epstein-Barr-virus-negative Hodgkin's lymphoma. Lancet 2005, 365(9478):2216-2224.
53. Cozen W., Gill P.S., Ingles S.A., et al. IL-6 levels and genotype are associated with risk of young adult Hodgkin lymphoma. Blood 2004, 103(8):3216-3221.
54. Cozen W., Gill P.S., Salam M.T., et al. Interleukin-2, interleukin-12, and interferon-gamma levels and risk of young adult Hodgkin lymphoma. Blood 2008, 111(7):3377-3382.
55. Straus S.E., Jaffe E.S., Puck J.M., et al. The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. Blood 2001, 98(1):194-200.
56. Baumler C., Duan F., Onel K., et al. Differential recruitment of caspase 8 to cFlip confers sensitivity or resistance to Fas-mediated apoptosis in a subset of familial lymphoma patients. Leuk Res 2003, 27(9):841-851.
57. Salipante S.J., Mealiffe M.E., Wechsler J., et al. Mutations in a gene encoding a midbody kelch protein in familial and sporadic classical Hodgkin lymphoma lead to binucleated cells. Proc Natl Acad Sci U S A 2009, 106(35):14920-14925.
58. Jaffe E.S., Harris N.L., Stein H., et al. Classification of lymphoid neoplasms: the microscope as a tool for disease discovery. Blood 2008, 112(12):4384-4399.
59. Anderson J.R., Armitage J.O., Weisenburger D.D. Epidemiology of the non-Hodgkin's lymphomas: distributions of the major subtypes differ by geographic locations. Non-Hodgkin's lymphoma classification project. Ann Oncol 1998, 9(7):717-720.
60. WHO classification of tumours of haematopoietic and lymphoid tissues 2008, IARC, Lyon (France). S.H. Swerdlow, E. Campo, N.L. Harris (Eds.).
61. Alexander D.D., Mink P.J., Adami H.O., et al. The non-Hodgkin lymphomas: a review of the epidemiologic literature. Int J Cancer 2007, 120(Suppl 12):1-39.
62. Linet M.S., Pottern L.M. Familial aggregation of hematopoietic malignancies and risk of non-Hodgkin's lymphoma. Cancer Res 1992, 52(Suppl 19):5468s-5473s.
63. Iscovich J., Parkin D.M. Risk of cancer in migrants and their descendants in Israel: I. Leukaemias and lymphomas. Int J Cancer 1997, 70(6):649-653.
64. Au W.Y., Gascoyne R.D., Klasa R.D., et al. Incidence and spectrum of non-Hodgkin lymphoma in Chinese migrants to British Columbia. Br J Haematol 2005, 128(6):792-796.
65. Grulich A.E., Swerdlow A.J., Head J., et al. Cancer mortality in African and Caribbean migrants to England and Wales. Br J Cancer 1992, 66(5):905-911.
66. Wang S.S., Slager S.L., Brennan P., et al. Family history of hematopoietic malignancies and risk of non-Hodgkin lymphoma (NHL): a pooled analysis of 10 211 cases and 11 905 controls from the International Lymphoma Epidemiology Consortium (InterLymph). Blood 2007, 109(8):3479-3488.
67. Chatterjee N., Hartge P., Cerhan J.R., et al. Risk of non-Hodgkin's lymphoma and family history of lymphatic, hematologic, and other cancers. Cancer Epidemiol Biomarkers Prev 2004, 13(9):1415-1421.
68. Lichtenstein P., Holm N.V., Verkasalo P.K., et al. Environmental and heritable factors in the causation of cancer-analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med 2000, 343(2):78-85.
69. Goldin L.R., Bjorkholm M., Kristinsson S.Y., et al. Highly increased familial risks for specific lymphoma subtypes. Br J Haematol 2009, 146(1):91-94.
70. Morton L.M., Wang S.S., Cozen W., et al. Etiologic heterogeneity among non-Hodgkin lymphoma subtypes. Blood 2008, 112(13):5150-5160.
71. Scott R.H., Homfray T., Huxter N.L., et al. Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations. J Med Genet 2007, 44(7):e83.
72. Steffen J., Varon R., Mosor M., et al. Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland. Int J Cancer 2004, 111(1):67-71.
73. Chrzanowska K.H., Piekutowska-Abramczuk D., Popowska E., et al. Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies. Int J Cancer 2006, 118(5):1269-1274.
74. Cerosaletti K.M., Morrison V.A., Sabath D.E., et al. Mutations and molecular variants of the NBS1 gene in non-Hodgkin lymphoma. Genes Chromosomes Cancer 2002, 35(3):282-286.
75. Siddiqui R., Onel K., Facio F., et al. The genetics of familial lymphomas. Curr Oncol Rep 2004, 6(5):380-387.
76. Pineda M., Castellsague E., Musulen E., et al. Non-Hodgkin lymphoma related to hereditary nonpolyposis colorectal cancer in a patient with a novel heterozygous complex deletion in the MSH2 gene. Genes Chromosomes Cancer 2008, 47(4):326-332.
77. Skibola C.F., Curry J.D., Nieters A. Genetic susceptibility to lymphoma. Haematologica 2007, 92(7):960-969.
78. Wang S.S., Purdue M.P., Cerhan J.R., et al. Common gene variants in the tumor necrosis factor (TNF) and TNF receptor superfamilies and NF-kB transcription factors and non-Hodgkin lymphoma risk. PLoS One 2009, 4(4):e5360.
79. Rothman N., Skibola C.F., Wang S.S., et al. Genetic variation in TNF and IL10 and risk of non-Hodgkin lymphoma: a report from the InterLymph Consortium. Lancet Oncol 2006, 7(1):27-38.
80. Cerhan J.R., Liu-Mares W., Fredericksen Z.S., et al. Genetic variation in tumor necrosis factor and the nuclear factor-kappaB canonical pathway and risk of non-Hodgkin's lymphoma. Cancer Epidemiol Biomarkers Prev 2008, 17(11):3161-3169.
81. Wang S.S., Cerhan J.R., Hartge P., et al. Common genetic variants in proinflammatory and other immunoregulatory genes and risk for non-Hodgkin lymphoma. Cancer Res 2006, 66(19):9771-9780.
82. Purdue M.P., Lan Q., Kricker A., et al. Polymorphisms in immune function genes and risk of non-Hodgkin lymphoma: findings from the New South Wales non-Hodgkin Lymphoma Study. Carcinogenesis 2007, 28(3):704-712.
83. Liang X.S., Caporaso N., McMaster M.L., et al. Common genetic variants in candidate genes and risk of familial lymphoid malignancies. Br J Haematol 2009, 146(4):418-423.
84. Novak A.J., Slager S.L., Fredericksen Z.S., et al. Genetic variation in B-cell-activating factor is associated with an increased risk of developing B-cell non-Hodgkin lymphoma. Cancer Res 2009, 69(10):4217-4224.
85. Zhang Y., Lan Q., Rothman N., et al. A putative exonic splicing polymorphism in the BCL6 gene and the risk of non-Hodgkin lymphoma. J Natl Cancer Inst 2005, 97(21):1616-1618.
86. Morton L.M., Purdue M.P., Zheng T., et al. Risk of non-Hodgkin lymphoma associated with germline variation in genes that regulate the cell cycle, apoptosis, and lymphocyte development. Cancer Epidemiol Biomarkers Prev 2009, 18(4):1259-1270.
87. Lan Q., Morton L.M., Armstrong B., et al. Genetic variation in caspase genes and risk of non-Hodgkin lymphoma: a pooled analysis of 3 population-based case-control studies. Blood 2009, 114(2):264-267.
88. Purdue M.P., Lan Q., Wang S.S., et al. A pooled investigation of Toll-like receptor gene variants and risk of non-Hodgkin lymphoma. Carcinogenesis 2009, 30(2):275-281.
89. Skibola C.F., Nieters A., Bracci P.M., et al. A functional TNFRSF5 gene variant is associated with risk of lymphoma. Blood 2008, 111(8):4348-4354.
90. International Myeloma Working Group Criteria for the classification of monoclonal gammopathies, multiple myeloma and related disorders: a report of the International Myeloma Working Group. Br J Haematol 2003, 121(5):749-757.
91. McMaster M.L. Familial Waldenstrom's macroglobulinemia. Semin Oncol 2003, 30(2):146-152.
92. Kristinsson S.Y., Bjorkholm M., Goldin L.R., et al. Risk of lymphoproliferative disorders among first-degree relatives of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia patients: a population-based study in Sweden. Blood 2008, 112(8):3052-3056.
93. McMaster M.L., Goldin L.R., Bai Y., et al. Genomewide linkage screen for Waldenstrom macroglobulinemia susceptibility loci in high-risk families. Am J Hum Genet 2006, 79(4):695-701.
94. Landgren O., Weiss B.M. Patterns of monoclonal gammopathy of undetermined significance and multiple myeloma in various ethnic/racial groups: support for genetic factors in pathogenesis. Leukemia 2009, 23(10):1691-1697.
95. Kyle R.A., Therneau T.M., Rajkumar S.V., et al. A long-term study of prognosis in monoclonal gammopathy of undetermined significance. N Engl J Med 2002, 346(8):564-569.
96. Coleman E.A., Lynch H., Enderlin C., et al. Initial report of a family registry of multiple myeloma. Cancer Nurs 2009, 32(6):456-464.
97. Eriksson M., Hallberg B. Familial occurrence of hematologic malignancies and other diseases in multiple myeloma: a case-control study. Cancer Causes Control 1992, 3(1):63-67.
98. Brown L.M., Linet M.S., Greenberg R.S., et al. Multiple myeloma and family history of cancer among blacks and whites in the U.S. Cancer 1999, 85(11):2385-2390.
99. Kristinsson S.Y., Bjorkholm M., Goldin L.R., et al. Patterns of hematologic malignancies and solid tumors among 37,838 first-degree relatives of 13,896 patients with multiple myeloma in Sweden. Int J Cancer 2009, 125(9):2147-2150.
100. Landgren O., Linet M.S., McMaster M.L., et al. Familial characteristics of autoimmune and hematologic disorders in 8,406 multiple myeloma patients: a population-based case-control study. Int J Cancer 2006, 118(12):3095-3098.
101. Landgren O., Kristinsson S.Y., Goldin L.R., et al. Risk of plasma cell and lymphoproliferative disorders among 14621 first-degree relatives of 4458 patients with monoclonal gammopathy of undetermined significance in Sweden. Blood 2009, 114(4):791-795.
102. Vachon C.M., Kyle R.A., Therneau T.M., et al. Increased risk of monoclonal gammopathy in first-degree relatives of patients with multiple myeloma or monoclonal gammopathy of undetermined significance. Blood 2009, 114(4):785-790.
103. Lynch H.T., Watson P., Tarantolo S., et al. Phenotypic heterogeneity in multiple myeloma families. J Clin Oncol 2005, 23(4):685-693.
104. Shoenfeld Y., Berliner S., Shaklai M., et al. Familial multiple myeloma. A review of thirty-seven families. Postgrad Med J 1982, 58(675):12-16.
105. Grosbois B., Jego P., Attal M., et al. Familial multiple myeloma: report of fifteen families. Br J Haematol 1999, 105(3):768-770.
106. Deshpande H.A., Hu X.P., Marino P., et al. Anticipation in familial plasma cell dyscrasias. Br J Haematol 1998, 103(3):696-703.
107. Kristinsson S.Y., Goldin L.R., Bjorkholm M., et al. Risk of solid tumors and myeloid hematological malignancies among first-degree relatives of patients with monoclonal gammopathy of undetermined significance. Haematologica 2009, 94(8):1179-1181.
108. Cao J., Hong C.H., Rosen L., et al. Deletion of genetic material from a poly (ADP-ribose) polymerase-like gene on chromosome 13 occurs frequently in patients with monoclonal gammopathies. Cancer Epidemiol Biomarkers Prev 1995, 4(7):759-763.
109. Grass S., Preuss K.D., Ahlgrimm M., et al. Association of a dominantly inherited hyperphosphorylated paraprotein target with sporadic and familial multiple myeloma and monoclonal gammopathy of undetermined significance: a case-control study. Lancet Oncol 2009, 10(10):950-956.
110. Keats J.J., Fonseca R., Chesi M., et al. Promiscuous mutations activate the noncanonical NF-kappaB pathway in multiple myeloma. Cancer Cell 2007, 12(2):131-144.
111. Gilbert H.S. Familial myeloproliferative disease. Baillieres Clin Haematol 1998, 11(4):849-858.
112. Perez-Encinas M., Bello J.L., Perez-Crespo S., et al. Familial myeloproliferative syndrome. Am J Hematol 1994, 46(3):225-229.
113. Kralovics R., Stockton D.W., Prchal J.T. Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease. Blood 2003, 102(10):3793-3796.
114. Levine R.L., Wadleigh M., Cools J., et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 2005, 7(4):387-397.
115. Kralovics R., Passamonti F., Buser A.S., et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005, 352(17):1779-1790.
116. James C., Ugo V., Le Couedic J.P., et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005, 434(7037):1144-1148.
117. Baxter E.J., Scott L.M., Campbell P.J., et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005, 365(9464):1054-1061.
118. Skoda R. The genetic basis of myeloproliferative disorders. Hematology Am Soc Hematol Educ Program 2007, 1-10.
119. Tefferi A., Vardiman J.W. Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia 2008, 22(1):14-22.
120. Prchal J.F., Axelrad A.A. Letter: bone-marrow responses in polycythemia vera. N Engl J Med 1974, 290(24):1382.
121. Rumi E., Passamonti F., Della Porta M.G., et al. Familial chronic myeloproliferative disorders: clinical phenotype and evidence of disease anticipation. J Clin Oncol 2007, 25(35):5630-5635.
122. Landgren O., Goldin L.R., Kristinsson S.Y., et al. Increased risks of polycythemia vera, essential thrombocythemia, and myelofibrosis among 24,577 first-degree relatives of 11,039 patients with myeloproliferative neoplasms in Sweden. Blood 2008, 112(6):2199-2204.
123. Bellanne-Chantelot C., Chaumarel I., Labopin M., et al. Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders. Blood 2006, 108(1):346-352.
124. Rumi E., Passamonti F., Pietra D., et al. JAK2 (V617F) as an acquired somatic mutation and a secondary genetic event associated with disease progression in familial myeloproliferative disorders. Cancer 2006, 107(9):2206-2211.
125. Olcaydu D., Harutyunyan A., Jager R., et al. A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms. Nat Genet 2009, 41(4):450-454.
126. Jones A.V., Chase A., Silver R.T., et al. JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms. Nat Genet 2009, 41(4):446-449.
127. Kilpivaara O., Mukherjee S., Schram A.M., et al. A germline JAK2 SNP is associated with predisposition to the development of JAK2 (V617F)-positive myeloproliferative neoplasms. Nat Genet 2009, 41(4):455-459.
128. Delhommeau F., Dupont S., Della Valle V., et al. Mutation in TET2 in myeloid cancers. N Engl J Med 2009, 360(22):2289-2301.
129. Saint-Martin C., Leroy G., Delhommeau F., et al. Analysis of the ten-eleven translocation 2 (TET2) gene in familial myeloproliferative neoplasms. Blood 2009, 114(8):1628-1632.
130. Rumi E., Passamonti F., Picone C., et al. Disease anticipation in familial myeloproliferative neoplasms. Blood 2008, 112(6):2587-2588. [author reply 2588-9].
131. Jemal A., Siegel R., Ward E., et al. Cancer statistics, 2009. CA Cancer J Clin 2009, 59(4):225-249.
132. Smith M.A., Ries L.A., Gurney J.G., et al. Leukemia 1999, National Cancer Institute, SEER Program, Bethesda (MD).
133. Greaves M.F., Maia A.T., Wiemels J.L., et al. Leukemia in twins: lessons in natural history. Blood 2003, 102(7):2321-2333.
134. Hemminki K., Jiang Y. Risks among siblings and twins for childhood acute lymphoid leukaemia: results from the Swedish family-cancer database. Leukemia 2002, 16(2):297-298.
135. Malinge S., Izraeli S., Crispino J.D. Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome. Blood 2009, 113(12):2619-2628.
136. Klusmann J.H., Creutzig U., Zimmermann M., et al. Treatment and prognostic impact of transient leukemia in neonates with Down syndrome. Blood 2008, 111(6):2991-2998.
137. Bercovich D., Ganmore I., Scott L.M., et al. Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome. Lancet 2008, 372(9648):1484-1492.
138. Mullighan C.G., Goorha S., Radtke I., et al. Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia. Nature 2007, 446(7137):758-764.
139. Mullighan C.G., Miller C.B., Radtke I., et al. BCR-ABL1 lymphoblastic leukaemia is characterized by the deletion of Ikaros. Nature 2008, 453(7191):110-114.
140. Kawamata N., Ogawa S., Zimmermann M., et al. Molecular allelokaryotyping of pediatric acute lymphoblastic leukemias by high-resolution single nucleotide polymorphism oligonucleotide genomic microarray. Blood 2008, 111(2):776-784.
141. Kuiper R.P., Schoenmakers E.F., van Reijmersdal S.V., et al. High-resolution genomic profiling of childhood ALL reveals novel recurrent genetic lesions affecting pathways involved in lymphocyte differentiation and cell cycle progression. Leukemia 2007, 21(6):1258-1266.
142. Wiemels J.L., Smith R.N., Taylor G.M., et al. Methylenetetrahydrofolate reductase (MTHFR) polymorphisms and risk of molecularly defined subtypes of childhood acute leukemia. Proc Natl Acad Sci U S A 2001, 98(7):4004-4009.
143. Urayama K.Y., Wiencke J.K., Buffler P.A., et al. MDR1 gene variants, indoor insecticide exposure, and the risk of childhood acute lymphoblastic leukemia. Cancer Epidemiol Biomarkers Prev 2007, 16(6):1172-1177.
144. Healy J., Belanger H., Beaulieu P., et al. Promoter SNPs in G1/S checkpoint regulators and their impact on the susceptibility to childhood leukemia. Blood 2007, 109(2):683-692.
145. Mathonnet G., Krajinovic M., Labuda D., et al. Role of DNA mismatch repair genetic polymorphisms in the risk of childhood acute lymphoblastic leukaemia. Br J Haematol 2003, 123(1):45-48.
146. Muralitharan S., Wali Y., Pathare A.V. Perforin A91V polymorphism and putative susceptibility to hematological malignancies. Leukemia 2006, 20(12):2178.
147. Schnakenberg E., Mehles A., Cario G., et al. Polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and susceptibility to pediatric acute lymphoblastic leukemia in a German study population. BMC Med Genet 2005, 6:23.
148. Santoro A., Cannella S., Trizzino A., et al. A single amino acid change A91V in perforin: a novel, frequent predisposing factor to childhood acute lymphoblastic leukemia?. Haematologica 2005, 90(5):697-698.
149. Papaemmanuil E., Hosking F.J., Vijayakrishnan J., et al. Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia. Nat Genet 2009, 41(9):1006-1010.
150. Trevino L.R., Yang W., French D., et al. Germline genomic variants associated with childhood acute lymphoblastic leukemia. Nat Genet 2009, 41(9):1001-1005.
151. Yamamoto J.F., Goodman M.T. Patterns of leukemia incidence in the United States by subtype and demographic characteristics, 1997-2002. Cancer Causes Control 2008, 19(4):379-390.
152. Owen C., Barnett M., Fitzgibbon J. Familial myelodysplasia and acute myeloid leukaemia-a review. Br J Haematol 2008, 140(2):123-132.
153. Dokal I., Vulliamy T. Inherited aplastic anaemias/bone marrow failure syndromes. Blood Rev 2008, 22(3):141-153.
154. Wechsler J., Greene M., McDevitt M.A., et al. Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. Nat Genet 2002, 32(1):148-152.
155. Xu G., Nagano M., Kanezaki R., et al. Frequent mutations in the GATA-1 gene in the transient myeloproliferative disorder of Down syndrome. Blood 2003, 102(8):2960-2968.
156. Tartaglia M., Niemeyer C.M., Fragale A., et al. Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet 2003, 34(2):148-150.
157. Jongmans M.C., Kuiper R.P., Carmichael C.L., et al. Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome. Leukemia 2009, 24(1):242-246.
158. Song W.J., Sullivan M.G., Legare R.D., et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 1999, 23(2):166-175.
159. Michaud J., Wu F., Osato M., et al. In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Blood 2002, 99(4):1364-1372.
160. Harada H., Harada Y., Tanaka H., et al. Implications of somatic mutations in the AML1 gene in radiation-associated and therapy-related myelodysplastic syndrome/acute myeloid leukemia. Blood 2003, 101(2):673-680.
161. Renneville A., Mialou V., Philippe N., et al. Another pedigree with familial acute myeloid leukemia and germline CEBPA mutation. Leukemia 2009, 23(4):804-806.
162. Smith M.L., Cavenagh J.D., Lister T.A., et al. Mutation of CEBPA in familial acute myeloid leukemia. N Engl J Med 2004, 351(23):2403-2407.
163. Preudhomme C., Sagot C., Boissel N., et al. Favorable prognostic significance of CEBPA mutations in patients with de novo acute myeloid leukemia: a study from the Acute Leukemia French Association (ALFA). Blood 2002, 100(8):2717-2723.
164. Escher R., Jones A., Hagos F., et al. Chromosome band 16q22-linked familial AML: exclusion of candidate genes, and possible disease risk modification by NQO1 polymorphisms. Genes Chromosomes Cancer 2004, 41(3):278-282.
165. Minelli A., Maserati E., Giudici G., et al. Familial partial monosomy 7 and myelodysplasia: different parental origin of the monosomy 7 suggests action of a mutator gene. Cancer Genet Cytogenet 2001, 124(2):147-151.
166. Buijs A., Poddighe P., van Wijk R., et al. A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies. Blood 2001, 98(9):2856-2858.
167. Seedhouse C., Faulkner R., Ashraf N., et al. Polymorphisms in genes involved in homologous recombination repair interact to increase the risk of developing acute myeloid leukemia. Clin Cancer Res 2004, 10(8):2675-2680.
168. Ley T.J., Mardis E.R., Ding L., et al. DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature 2008, 456(7218):66-72.
169. Mardis E.R., Ding L., Dooling D.J., et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med 2009, 361(11):1058-1066.
170. Godley L.A., Larson R.A. Therapy-related myeloid leukemia. Semin Oncol 2008, 35(4):418-429.
171. Seedhouse C., Russell N. Advances in the understanding of susceptibility to treatment-related acute myeloid leukaemia. Br J Haematol 2007, 137(6):513-529.
172. Perentesis J.P. Genetic predisposition and treatment-related leukemia. Med Pediatr Oncol 2001, 36(5):541-548.
173. Maris J.M., Wiersma S.R., Mahgoub N., et al. Monosomy 7 myelodysplastic syndrome and other second malignant neoplasms in children with neurofibromatosis type 1. Cancer 1997, 79(7):1438-1446.
174. Larson R.A., Wang Y., Banerjee M., et al. Prevalence of the inactivating 609C→T polymorphism in the NAD(P)H: quinone oxidoreductase (NQO1) gene in patients with primary and therapy-related myeloid leukemia. Blood 1999, 94(2):803-807.
175. Naoe T., Takeyama K., Yokozawa T., et al. Analysis of genetic polymorphism in NQO1, GST-M1, GST-T1, and CYP3A4 in 469 Japanese patients with therapy-related leukemia/myelodysplastic syndrome and de novo acute myeloid leukemia. Clin Cancer Res 2000, 6(10):4091-4095.
176. Sasai Y., Horiike S., Misawa S., et al. Genotype of glutathione S-transferase and other genetic configurations in myelodysplasia. Leuk Res 1999, 23(11):975-981.
177. Allan J.M., Wild C.P., Rollinson S., et al. Polymorphism in glutathione S-transferase P1 is associated with susceptibility to chemotherapy-induced leukemia. Proc Natl Acad Sci U S A 2001, 98(20):11592-11597.
178. Jawad M., Seedhouse C.H., Russell N., et al. Polymorphisms in human homeobox HLX1 and DNA repair RAD51 genes increase the risk of therapy-related acute myeloid leukemia. Blood 2006, 108(12):3916-3918.
179. Bolufer P., Collado M., Barragan E., et al. Profile of polymorphisms of drug-metabolising enzymes and the risk of therapy-related leukaemia. Br J Haematol 2007, 136(4):590-596.
180. Ellis N.A., Huo D., Yildiz O., et al. MDM2 SNP309 and TP53 Arg72Pro interact to alter therapy-related acute myeloid leukemia susceptibility. Blood 2008, 112(3):741-749.
181. Hartford C., Yang W., Cheng C., et al. Genome scan implicates adhesion biological pathways in secondary leukemia. Leukemia 2007, 21(10):2128-2136.
182. Knight J.A., Skol A.D., Shinde A., et al. Genome-wide association study to identify novel loci associated with therapy-related myeloid leukemia susceptibility. Blood 2009, 113(22):5575-5582.
183. Yohay K. Neurofibromatosis type 1 and associated malignancies. Curr Neurol Neurosci Rep 2009, 9(3):247-253.
184. Birch J.M., Alston R.D., McNally R.J., et al. Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene 2001, 20(34):4621-4628.
185. Gonzalez K.D., Noltner K.A., Buzin C.H., et al. Beyond Li Fraumeni syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol 2009, 27(8):1250-1256.
186. Alter B.P., Giri N., Savage S.A., et al. Cancer in dyskeratosis congenita. Blood 2009, 113(26):6549-6557.
187. Dale D.C., Bolyard A.A., Schwinzer B.G., et al. The Severe Chronic Neutropenia International Registry: 10-year follow-up report. Support Cancer Ther 2006, 3(4):220-231.
188. Rosenberg P.S., Alter B.P., Ebell W. Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry. Haematologica 2008, 93(4):511-517.
189. German J. Bloom's syndrome. XX. The first 100 cancers. Cancer Genet Cytogenet 1997, 93(1):100-106.
190. Seiter K., Qureshi A., Liu D., et al. Severe toxicity following induction chemotherapy for acute myelogenous leukemia in a patient with Werner's syndrome. Leuk Lymphoma 2005, 46(7):1091-1095.
191. Knoell K.A., Sidhu-Malik N.K., Malik R.K. Aplastic anemia in a patient with Rothmund-Thomson syndrome. J Pediatr Hematol Oncol 1999, 21(5):444-446.
192. Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group. Arch Dis Child 2000, 82(5):400-406.
193. Germeshausen M., Ballmaier M., Welte K. MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. Hum Mutat 2006, 27(3):296.
194. Jorge A.A., Malaquias A.C., Arnhold I.J., et al. Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway. Horm Res 2009, 71(4):185-193.
195. Dale D.C., Link D.C. The many causes of severe congenital neutropenia. N Engl J Med 2009, 360(1):3-5.
196. Whitlock J.A. Down syndrome and acute lymphoblastic leukaemia. Br J Haematol 2006, 135(5):595-602.
197. Taylor A.M., Metcalfe J.A., Thick J., et al. Leukemia and lymphoma in ataxia telangiectasia. Blood 1996, 87(2):423-438.
198. Sullivan K.E., Mullen C.A., Blaese R.M., et al. A multiinstitutional survey of the Wiskott-Aldrich syndrome. J Pediatr 1994, 125(6 Pt 1):876-885.
199. Mueller B.U., Pizzo P.A. Cancer in children with primary or secondary immunodeficiencies. J Pediatr 1995, 126(1):1-10.