title: Advances in genetic studies of inherited bone marrow failure syndromes and their associated malignancies.
abstract: The inherited bone marrow failure syndromes (IBMFS) are a rare group of heterogeneous genetic disorders characterised by bone marrow failure, commonly associated with one or more congenital anomalies found in patients which have a familiar predisposition. Genetic detection of IBMFS disease types is not only to benefit to affected patients but also of help to relatives unaffected phenotypically. Patients with IBMFS have a high risk of hematologic malignancies, commonly myelodyspastic syndrome (MDS), acute myeloid leukemia (AML) and specific types solid tumours. These malignancies may require different treatment strategies due to the underlying gene defects. Studies demonstrate that over 40 genes mutations are associated with IBMFS. Recently studies using next generation sequencing have increased our understanding of the etiology and classification of IBMFS, particularly the link between the defects and the biological mechanism leading to malignancies.
authors.affiliation: 1 Department of Gastroenterology, Chang Hai Hospital, Second Military Medical University, Shanghai 200433, China ; 2 Department of Hematology, The first Affiliated Hospital of Harbin Medical University, Harbin 150001, China ; 3 Western Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, NSW, 2014, Australia.
authors.forename: Qi-Hong
authors.initials: QH
authors.lastname: Yu
authors.affiliation: 1 Department of Gastroenterology, Chang Hai Hospital, Second Military Medical University, Shanghai 200433, China ; 2 Department of Hematology, The first Affiliated Hospital of Harbin Medical University, Harbin 150001, China ; 3 Western Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, NSW, 2014, Australia.
authors.forename: Shu-Ye
authors.initials: SY
authors.lastname: Wang
authors.affiliation: 1 Department of Gastroenterology, Chang Hai Hospital, Second Military Medical University, Shanghai 200433, China ; 2 Department of Hematology, The first Affiliated Hospital of Harbin Medical University, Harbin 150001, China ; 3 Western Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, NSW, 2014, Australia.
authors.forename: Zhanhe
authors.initials: Z
authors.lastname: Wu
keywords: Inherited bone marrow failure syndromes (IBMFS); cancer predisposition; genomic instability
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