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Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia
- Source :
- Scientific Reports, Scientific Reports, Vol 10, Iss 1, Pp 1-7 (2020)
- Publication Year :
- 2020
- Publisher :
- Springer Science and Business Media LLC, 2020.
-
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.
- Subjects :
- 0301 basic medicine
DNA Repair
Gene mutation
medicine.disease_cause
Germline
0302 clinical medicine
hemic and lymphatic diseases
Cancer genomics
Prevalence
Age of Onset
Child
Aged, 80 and over
Genetics
Mutation
Multidisciplinary
Myeloid leukemia
DNA, Neoplasm
Middle Aged
Leukemia, Myeloid, Acute
Leukemia
Child, Preschool
Medicine
Adult
Adolescent
Science
PALB2
Article
Genomic Instability
Young Adult
03 medical and health sciences
Germline mutation
Exome Sequencing
medicine
Humans
Genetic Predisposition to Disease
Germ-Line Mutation
Aged
Haematological cancer
business.industry
Infant, Newborn
Infant
medicine.disease
030104 developmental biology
business
030217 neurology & neurosurgery
ERCC4
Genes, Neoplasm
Subjects
Details
- ISSN :
- 20452322
- Volume :
- 10
- Database :
- OpenAIRE
- Journal :
- Scientific Reports
- Accession number :
- edsair.doi.dedup.....3ad81a8d4e8db1a5b51dce91c1bc0b5a