Figure 1. ELP1-associated medulloblastoma.
a. QQ plot for LoF burden testing based on 171 pediatric MBSHH cases and 288 pediatric controls. P values were adjusted for multiple testing based on Bonferroni correction.
b. Germline ELP1 mutation profile in MBSHH patients.
c. Frequency of germline ELP1 LoF variants in the MB discovery cohort.
d. Frequency of germline ELP1 LoF variants in a prospective pediatric MBSHH cohort.
e. Frequency of known and recurrent genetic disorders in pediatric MBSHH.
f. Frequency of germline ELP1 LoF variants in MBSHH, pediatric/adult pan-cancer, and control cohorts.
g. Age at diagnosis for MBSHH patients stratified by known genetic disorders. P values were calculated using a two-sided Mann–Whitney U-test. Boxes show median, first and third quartile, and whiskers extend to 1.5× the interquartile range.