Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia

Abstract Acute myeloid leukemia (AML) is one of the most common types of leukemia. With the recent advances in sequencing technology and the growing body of knowledge on the genetics of AML, there is increasing concern about cancer predisposing germline mutations as well as somatic mutations. As fam...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Borahm Kim, Woobin Yun, Seung-Tae Lee, Jong Rok Choi, Keon Hee Yoo, Hong Hoe Koo, Chul Won Jung, Sun Hee Kim
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/868769cea06d44c283ffb043b9d14339
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:868769cea06d44c283ffb043b9d14339
record_format	dspace
spelling	oai:doaj.org-article:868769cea06d44c283ffb043b9d143392021-12-02T19:04:25ZPrevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia10.1038/s41598-020-71386-z2045-2322https://doaj.org/article/868769cea06d44c283ffb043b9d143392020-08-01T00:00:00Zhttps://doi.org/10.1038/s41598-020-71386-zhttps://doaj.org/toc/2045-2322Abstract Acute myeloid leukemia (AML) is one of the most common types of leukemia. With the recent advances in sequencing technology and the growing body of knowledge on the genetics of AML, there is increasing concern about cancer predisposing germline mutations as well as somatic mutations. As familial cases sharing germline mutations are constantly reported, germline predisposition gene mutations in patients with AML are gaining attention. We performed genomic sequencing of Korean patients diagnosed with AML to identify the prevalence and characteristics of germline predisposition mutations. Among 180 patients, germline predisposition mutations were identified in 13 patients (13/180, 7.2%, eight adults and five children). Germline mutations of BLM, BRCA1, BRCA2, CTC1, DDX41, ERCC4, ERCC6, FANCI, FANCM, PALB2, and SBDS were identified. Most of the mutations are in genes involved in DNA repair and genomic stability maintenance. Patients harboring germline mutations tended to have earlier onset of AML (p = 0.005), however, the presence of germline mutations did not showed significant association with other clinical characteristics or treatment outcome. Since each mutation was rare, further study with a larger number of cases would be needed to establish the effect of the mutations.Borahm KimWoobin YunSeung-Tae LeeJong Rok ChoiKeon Hee YooHong Hoe KooChul Won JungSun Hee KimNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 10, Iss 1, Pp 1-7 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Borahm Kim Woobin Yun Seung-Tae Lee Jong Rok Choi Keon Hee Yoo Hong Hoe Koo Chul Won Jung Sun Hee Kim Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia
description	Abstract Acute myeloid leukemia (AML) is one of the most common types of leukemia. With the recent advances in sequencing technology and the growing body of knowledge on the genetics of AML, there is increasing concern about cancer predisposing germline mutations as well as somatic mutations. As familial cases sharing germline mutations are constantly reported, germline predisposition gene mutations in patients with AML are gaining attention. We performed genomic sequencing of Korean patients diagnosed with AML to identify the prevalence and characteristics of germline predisposition mutations. Among 180 patients, germline predisposition mutations were identified in 13 patients (13/180, 7.2%, eight adults and five children). Germline mutations of BLM, BRCA1, BRCA2, CTC1, DDX41, ERCC4, ERCC6, FANCI, FANCM, PALB2, and SBDS were identified. Most of the mutations are in genes involved in DNA repair and genomic stability maintenance. Patients harboring germline mutations tended to have earlier onset of AML (p = 0.005), however, the presence of germline mutations did not showed significant association with other clinical characteristics or treatment outcome. Since each mutation was rare, further study with a larger number of cases would be needed to establish the effect of the mutations.
format	article
author	Borahm Kim Woobin Yun Seung-Tae Lee Jong Rok Choi Keon Hee Yoo Hong Hoe Koo Chul Won Jung Sun Hee Kim
author_facet	Borahm Kim Woobin Yun Seung-Tae Lee Jong Rok Choi Keon Hee Yoo Hong Hoe Koo Chul Won Jung Sun Hee Kim
author_sort	Borahm Kim
title	Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia
title_short	Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia
title_full	Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia
title_fullStr	Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia
title_full_unstemmed	Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia
title_sort	prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/868769cea06d44c283ffb043b9d14339
work_keys_str_mv	AT borahmkim prevalenceandclinicalimplicationsofgermlinepredispositiongenemutationsinpatientswithacutemyeloidleukemia AT woobinyun prevalenceandclinicalimplicationsofgermlinepredispositiongenemutationsinpatientswithacutemyeloidleukemia AT seungtaelee prevalenceandclinicalimplicationsofgermlinepredispositiongenemutationsinpatientswithacutemyeloidleukemia AT jongrokchoi prevalenceandclinicalimplicationsofgermlinepredispositiongenemutationsinpatientswithacutemyeloidleukemia AT keonheeyoo prevalenceandclinicalimplicationsofgermlinepredispositiongenemutationsinpatientswithacutemyeloidleukemia AT honghoekoo prevalenceandclinicalimplicationsofgermlinepredispositiongenemutationsinpatientswithacutemyeloidleukemia AT chulwonjung prevalenceandclinicalimplicationsofgermlinepredispositiongenemutationsinpatientswithacutemyeloidleukemia AT sunheekim prevalenceandclinicalimplicationsofgermlinepredispositiongenemutationsinpatientswithacutemyeloidleukemia
_version_	1718377221043781632

Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia

Ejemplares similares