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. Author manuscript; available in PMC: 2020 Oct 1.
Published in final edited form as: Nature. 2020 Apr 1;580(7803):396–401. doi: 10.1038/s41586-020-2164-5

Figure 3. Somatic mutation landscape of ELP1-associated medulloblastoma.

Figure 3.

a. Loss-of-heterozygosity (LOH) at the ELP1 locus for patients with germline ELP1 LoF variants (n=29 germline and n=29 MB samples). P values for LOH in MBs were calculated using a two-sided binomial test; *P<0.05. P value for the proportion of ELP1 LOH events was calculated using a two-sided binomial test.

b. Germline ELP1 mutation status stratified by molecular MBSHH subtypes.

c. Somatic mutation landscape of MBSHH subtypes.

d. Association between germline ELP1 LoF variants and somatic gene alterations (n=238 MBSHH). P values were calculated using Bayesian logistic regression analysis, likelihood ratio tests, and adjusted for multiple testing based on FDR correction.

e. Association between germline ELP1 LoF variants and somatic chromosomal alterations (n=238 MBSHH). P values were calculated using Bayesian logistic regression analysis, likelihood ratio tests, and adjusted for multiple testing based on FDR correction. Proposed three-step model of somatic evolution in ELP1-associated MBSHH.

f. Histological classification within molecular SHHα subtypes.

g. Overall survival within molecular SHHα subtypes based on Kaplan-Meier estimator and log-rank test.