Hereditary predisposition syndromes to myeloid neoplasms: diseases, genes and mechanisms of development
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 t...
Saved in:
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2024-04-01
|
| Series: | Онкогематология |
| Subjects: | |
| Online Access: | https://oncohematology.abvpress.ru/ongm/article/view/918 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849409337195233280 |
|---|---|
| author | M. V. Makarova M. V. Nemtsova D. A. Chekini D. K. Chernevskiy O. V. Sagaydak E. V. Kosova A. A. Krinitsyna M. S. Belenikin P. A. Zeynalova |
| author_facet | M. V. Makarova M. V. Nemtsova D. A. Chekini D. K. Chernevskiy O. V. Sagaydak E. V. Kosova A. A. Krinitsyna M. S. Belenikin P. A. Zeynalova |
| author_sort | M. V. Makarova |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-bd8f7088c9b34c6bb83ecf465f6aa063 |
| institution | Kabale University |
| issn | 1818-8346 2413-4023 |
| language | Russian |
| publishDate | 2024-04-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Онкогематология |
| spelling | doaj-art-bd8f7088c9b34c6bb83ecf465f6aa0632025-08-20T03:35:32ZrusABV-pressОнкогематология1818-83462413-40232024-04-011928810010.17650/1818-8346-2024-19-2-88-100754Hereditary predisposition syndromes to myeloid neoplasms: diseases, genes and mechanisms of developmentM. V. Makarova0M. V. Nemtsova1D. A. Chekini2D. K. Chernevskiy3O. V. Sagaydak4E. V. Kosova5A. A. Krinitsyna6M. S. Belenikin7P. A. Zeynalova8EVOGEN; Russian Scientific Center of Roentgenoradiology, Ministry of Health of RussiaEVOGEN; Research Centre for Medical Genetics; I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia (Sechenov University)Clinical Hospital “Lapino” of the “Mother and Child” Group of companiesEVOGEN; Privolzhsky Research Medical University, Ministry of Health of RussiaEVOGEN; National Medical Research Centre of Cardiology named after Academician E.I. Chazov, Ministry of Health of RussiaEVOGENEVOGENEVOGENClinical Hospital “Lapino” of the “Mother and Child” Group of companiesWith 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.https://oncohematology.abvpress.ru/ongm/article/view/918hereditary cancer syndromeshematological malignanciesnext generation sequencing |
| spellingShingle | M. V. Makarova M. V. Nemtsova D. A. Chekini D. K. Chernevskiy O. V. Sagaydak E. V. Kosova A. A. Krinitsyna M. S. Belenikin P. A. Zeynalova Hereditary predisposition syndromes to myeloid neoplasms: diseases, genes and mechanisms of development Онкогематология hereditary cancer syndromes hematological malignancies next generation sequencing |
| title | Hereditary predisposition syndromes to myeloid neoplasms: diseases, genes and mechanisms of development |
| title_full | Hereditary predisposition syndromes to myeloid neoplasms: diseases, genes and mechanisms of development |
| title_fullStr | Hereditary predisposition syndromes to myeloid neoplasms: diseases, genes and mechanisms of development |
| title_full_unstemmed | Hereditary predisposition syndromes to myeloid neoplasms: diseases, genes and mechanisms of development |
| title_short | Hereditary predisposition syndromes to myeloid neoplasms: diseases, genes and mechanisms of development |
| title_sort | hereditary predisposition syndromes to myeloid neoplasms diseases genes and mechanisms of development |
| topic | hereditary cancer syndromes hematological malignancies next generation sequencing |
| url | https://oncohematology.abvpress.ru/ongm/article/view/918 |
| work_keys_str_mv | AT mvmakarova hereditarypredispositionsyndromestomyeloidneoplasmsdiseasesgenesandmechanismsofdevelopment AT mvnemtsova hereditarypredispositionsyndromestomyeloidneoplasmsdiseasesgenesandmechanismsofdevelopment AT dachekini hereditarypredispositionsyndromestomyeloidneoplasmsdiseasesgenesandmechanismsofdevelopment AT dkchernevskiy hereditarypredispositionsyndromestomyeloidneoplasmsdiseasesgenesandmechanismsofdevelopment AT ovsagaydak hereditarypredispositionsyndromestomyeloidneoplasmsdiseasesgenesandmechanismsofdevelopment AT evkosova hereditarypredispositionsyndromestomyeloidneoplasmsdiseasesgenesandmechanismsofdevelopment AT aakrinitsyna hereditarypredispositionsyndromestomyeloidneoplasmsdiseasesgenesandmechanismsofdevelopment AT msbelenikin hereditarypredispositionsyndromestomyeloidneoplasmsdiseasesgenesandmechanismsofdevelopment AT pazeynalova hereditarypredispositionsyndromestomyeloidneoplasmsdiseasesgenesandmechanismsofdevelopment |