Genomics

Dataset Information

0

Germline RUNX1 Variation and Predisposition to Childhood Acute Lymphoblastic-ChIP-Seq


ABSTRACT: Somatic mutations of RUNX1, which encodes the myeloid and lymphoid transcriptional factor RUNX1, are common in both B- and T- acute lymphoid leukemia (ALL) and are associated with poor prognosis of T-ALL. However, there has been no comprehensive investigation of the pattern or prevalence of RUNX1 germline mutation in both B- and T-ALL. Here we report germline RUNX1 variants in 1.23% of B-ALL and 2.11% of T-ALL, identifying 31 unique variants in 62 B-ALL and 18 unique variants in 26 T-ALL children. The majority of frameshift and nonsense variants affected RUNX1 function in transcriptional regulation, hematopoiesis, and cellular proliferation. We identified JAK3 as the most frequent somatic mutation in T-ALL with RUNX1 variants. These results not only identify RUNX1 as a leukemia predisposition gene but also further underline the importance of germline genetic variants to the development of ALL

ORGANISM(S): Homo sapiens

PROVIDER: GSE178238 | GEO | 2021/12/31

REPOSITORIES: GEO

Dataset's files

Source:
Action DRS
Other
Items per page:
1 - 1 of 1

Similar Datasets

2021-12-31 | GSE178237 | GEO
| EGAS00001005403 | EGA
| EGAD00001007793 | EGA
2024-03-30 | E-MTAB-11760 | biostudies-arrayexpress
2023-11-08 | GSE228991 | GEO
2018-01-26 | GSE109653 | GEO
| PRJNA737803 | ENA
2008-04-08 | E-GEOD-10358 | biostudies-arrayexpress
2024-03-30 | E-MTAB-11757 | biostudies-arrayexpress
| 2125182 | ecrin-mdr-crc