Genetic Predisposition to Myelodysplastic Syndromes: A Challenge for Adult Hematologists
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چکیده
منابع مشابه
Familial Myelodysplastic/Acute Leukemia Syndromes—Myeloid Neoplasms with Germline Predisposition
Although most cases of myeloid neoplasms are sporadic, a small subset has been associated with germline mutations. The 2016 revision of the World Health Organization classification included these cases in a myeloid neoplasm group with a predisposing germline mutational background. These patients must have a different management and their families should get genetic counseling. Cases identificat...
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The myelodysplastic syndromes (MDS) form a heterogeneous group of clonal disorders with an increasing incidence in the elderly population and an emerging impact on healthcare resources. MDS are caused by gene mutations affecting the haematopoietic stem cells, leading to ineffective haematopoiesis, characterised by dysplasia and cytopenia, and a propensity to evolve towards secondary acute myelo...
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Apart from BRCA1, BRCA2, and TP53, more than a dozen breast cancer susceptibility genes have been identified. Recognizing affected individuals depends on evaluation of cancer family history and recognition of certain phenotypic markers on physical examination. Genetic testing provides a powerful tool for individualized risk stratification. Mutation carriers have several options for managing ris...
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Etiology of myelodysplastic syndromes The models for the development of sporadic MDS suggest the role of cumulative environmental exposures in genetically predisposed individuals. There is increasing evidence for a complex genetic predisposition to MDS involving naturally occurring DNA polymorphisms in genes that mediate DNA repair and metabolize environmental carcinogens.3 Large epidemiologic ...
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Sally B. Killick, Chris Carter, Dominic Culligan, Christopher Dalley, Emma Das-Gupta, Mark Drummond, Helen Enright, Gail L. Jones, Jonathan Kell, Juliet Mills, Ghulam Mufti, Jane Parker, Kavita Raj, Alexander Sternberg, Paresh Vyas, David Bowen and British Committee for Standards in Haematology The Royal Bournemouth and Christchurch Hospitals NHS Foundation Trust, Bournemouth, Hull and East Yor...
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ژورنال
عنوان ژورنال: International Journal of Molecular Sciences
سال: 2021
ISSN: 1422-0067
DOI: 10.3390/ijms22052525