Hereditary predisposition syndromes to myeloid neoplasms: diseases, genes and mechanisms of development-Reference-Cited by-同舟云学术

Hereditary predisposition syndromes to myeloid neoplasms: diseases, genes and mechanisms of development

Published:2024-04-02 Issue:2 Volume:19 Page:88-100
ISSN:2413-4023
Container-title:Oncohematology
language:
Short-container-title:Onkogematologiâ

Author:

Makarova M. V.¹^ORCID,Nemtsova M. V.²^ORCID,Chekini D. A.³^ORCID,Chernevskiy D. K.⁴^ORCID,Sagaydak O. V.⁵^ORCID,Kosova E. V.⁶^ORCID,Krinitsyna A. A.⁶^ORCID,Belenikin M. S.⁶^ORCID,Zeynalova P. A.³^ORCID

Affiliation:

1. EVOGEN; Russian Scientific Center of Roentgenoradiology, Ministry of Health of Russia

2. EVOGEN; Research Centre for Medical Genetics; I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia (Sechenov University)

3. Clinical Hospital “Lapino” of the “Mother and Child” Group of companies

4. EVOGEN; Privolzhsky Research Medical University, Ministry of Health of Russia

5. EVOGEN; National Medical Research Centre of Cardiology named after Academician E.I. Chazov, Ministry of Health of Russia

6. EVOGEN

Abstract

With the development of modern next generation sequencing based DNA diagnostic methods, it has become possible to study hereditary predisposition to oncohematological diseases. Germline variants (mutations) of RUNX1, CEBPA, GATA2, ANKRD26, DDX41, FANC- (Fanconi anemia), etc. genes, associated with the development of hereditary hematological malignancies, have been identified. Timely diagnosis of such diseases will allow for medical genetic counseling and testing of the patient’s relatives to identify or exclude the risk of developing the disease, select a donor for the patient (it is undesirable to use a mutation carrier relative as a donor), and personalize the choice of chemotherapy regimens (for example, patients with Fanconi anemia may experience increased sensitivity to chemotherapy). The aim of this review is to present a modern view of the genetic predisposition to the development of hematological malignancies.

Publisher

Publishing House ABV Press

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