Page 76 - Haematologica Vol. 109 - July 2024
P. 76
ARTICLE - Familial germline pathogenic alleles and hematologic malignancies Q. Feng et al.
Contributions
QF and KX performed primary data analysis, with help from SL. MS performed manual variant classifications. AL, LAG and JLW conceived the study and acquired funding. AJdS and JLW supervised statistical analysis, with help from MS and LAG. QF wrote the first draft, and JLW, LAG, and AJdS completed the writing team. All authors read and approved the final draft.
Funding
This study was funded by the V Foundation for Cancer Re-
References
1. Siegel RL, Miller KD, Jemel A. Cancer statistics, 2018. CA Cancer J Clin. 2018;68(1):7-30.
2. Rampersaud E, Ziegler DS, Iacobucci I, et al. Germline deletion of ETV6 in familial acute lymphoblastic leukemia. Blood Adv. 2019;3(7):1039-1046.
3. Saletta F, Dalla Pozza L, Byrne JA. Genetic causes of cancer predisposition in children and adolescents. Transl Pediatr. 2015;4(2):67-75.
4. Zhang J, Walsh MF, Wu G, et al. Germline mutations in predisposition genes in pediatric cancer. N Engl J Med. 2015;373(24):2336-2346.
5. Plon SE, Lupo PJ. Genetic predisposition to childhood cancer in the genomic era. Annu Rev Genomics Hum Genet. 2019;20:241-263.
6. Ripperger T, Bielack SS, Borkhardt A, et al. Childhood cancer predisposition syndromes-a concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology. Am J Med Genet A. 2017;173(4):1017-1037.
7. Feng Q, Nickels E, Muskens IS, et al. Increased burden of familial-associated early-onset cancer risk among minority Americans compared to non-Latino Whites. Elife. 2021;10:e64793.
8. Cerhan JR, Slager SL. Familial predisposition and genetic risk factors for lymphoma. Blood. 2015;126(20):2265-2273.
9. Stieglitz E, Loh ML. Genetic predispositions to childhood leukemia. Ther Adv Hematol. 2013;4(4):270-290.
10. Trevino LR, Yang W, French D, et al. Germline genomic variants associated with childhood acute lymphoblastic leukemia. Nat Genet. 2009;41(9):1001-1005.
11. Churchman ML, Qian M, Te Kronnie G, et al. Germline genetic IKZF1 variation and predisposition to childhood acute lymphoblastic leukemia. Cancer Cell. 2018;33(5):937-948.
12. Goldin LR, Landgren O, McMaster ML, et al. Familial aggregation and heterogeneity of non-Hodgkin lymphoma in population- based samples. Cancer Epidemiol Biomarkers Prev. 2005;14(10):2402-2406.
13. Goldin LR, Bjorkholm M, Kristinsson SY, Turesson I, Landgren O. 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.
14. Goldin LR, Bjorkholm M, Kristinsson SY, Turesson I, Landgren O. Highly increased familial risks for specific lymphoma subtypes. Br J Haematol. 2009;146(1):91-94.
15. Kristinsson SY, Bjorkholm M, Goldin LR, et al. Risk of lymphoproliferative disorders among first-degree relatives of
search (FP067172; to ADL, LAG, JLW). The funders had no role in study design, data collection and interpretation, or the decision to submit the work for publication.
Data-sharing statement
Sharing of raw and processed whole exome sequencing data from California Biobank specimens is restricted by California state statutory laws and IRB (see Online Supplementary Appendix for further details). Results from specific genes or regions may be requested from wiemels@usc.edu.
lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia patients: a population-based study in Sweden. Blood. 2008;112(8):3052-3056.
16. Goldin LR, Pfeiffer RM, Gridley G, et al. Familial aggregation of Hodgkin lymphoma and related tumors. Cancer. 2004;100(9):1902-1908.
17. Chang ET, Smedby KE, Hjalgrim H, et al. Family history of hematopoietic malignancy and risk of lymphoma. J Natl Cancer Inst. 2005;97(19):1466-1474.
18. Frazer KA, Murray SS, Schork NJ, Topol EJ. Human genetic variation and its contribution to complex traits. Nat Rev Genet. 2009;10(4):241-251.
19. Feng Q, de Smith AJ, Vergara-Lluri M, et al. Trends in acute lymphoblastic leukemia incidence in the US from 2000-2016: an increased risk in Latinos across all age groups. Am J Epidemiol. 2021;190(4):519-527.
20. Roy A, Roberts I, Norton A, Vyas P. Acute megakaryoblastic leukaemia (AMKL) and transient myeloproliferative disorder (TMD) in Down syndrome: a multi-step model of myeloid leukaemogenesis. Br J Haematol. 2009;147(1):3-12.
21. Klco JM, Mullighan CG. Advances in germline predisposition to acute leukaemias and myeloid neoplasms. Nat Rev Cancer. 2021;21(2):122-137.
22. Salmoiraghi S, Rambaldi A, Spinelli O. TP53 in adult acute lymphoblastic leukemia. Leuk Lymphoma. 2018;59(4):778-789. 23. Barbosa K, Li S, Adams PD, Deshpande AJ. The role of TP53 in
acute myeloid leukemia: challenges and opportunities. Genes
Chromosomes Cancer. 2019;58(12):875-888.
24. Jain P, Wang M. Mantle cell lymphoma: 2019 update on the
diagnosis, pathogenesis, prognostication, and management. Am
J Hematol. 2019;94(6):710-725.
25. Eskelund CW, Dahl C, Hansen JW, et al. TP53 mutations identify
younger mantle cell lymphoma patients who do not benefit from
intensive chemoimmunotherapy. Blood. 2017;130(17):1903-1910. 26. Deng M, Xu-Monette ZY, Pham LV, et al. Aggressive B-cell
lymphoma with MYC/TP53 dual alterations displays distinct clinicopathobiological features and response to novel targeted agents. Mol Cancer Res. 2021;19(2):249-260.
27. Pasquet M, Bellanne-Chantelot C, Tavitian S, et al. High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. Blood. 2013;121(5):822-829.
28. Kennedy AL, Shimamura A. Genetic predisposition to MDS: clinical features and clonal evolution. Blood. 2019;133(10):1071-1085.
29. Kanagal-Shamanna R, Bao H, Kearney H, et al. Molecular characterization of novel ATM fusions in chronic lymphocytic
Haematologica | 109 July 2024
2090

