Table 2.
Mutations in NEC organoids identified by whole exome sequencing.4
| NEC-01013 (P11) | NEC-02002 (P5) | |
|---|---|---|
| Number of somatic mutations | 49 | 532 |
| Number of indels (of all mutations) | 5 (10.2%) | 125 (23.5%) |
| Number of single nucleotide variants (of all mutations) | 44 (89.8%) | 407 (78.5%) |
| Mutated cancer genes (VAF) | TP53 (95,2%); KRAS (42,1%); DNMT3A (96,6%); HIST1H3I (45,8%); FLT3 (99,1%); ARID2 (44,2%); NCOA3 (4,7%); RB1 (99%); APC (98,5%); RAD50 (11,1%) | GNA11 (49,4%); TP53 (98,3%); LATS2 (32,8%); DNMT3A (7,6%); CDK8 (21,6%); ARID1A (21,8%); BRIP1 (5,1%); AMER1 (5,5%); ZFHX3 (16,3%); ERCC5 (40,7%); BRAF (35,9%); RECQL4 (15,4%)5; RECQL4 (12,7%) |
4Total number of somatic mutations is described and mutated cancer genes, filtered based on the MSK-IMPACT cancer gene panel, and only including genes with predicted moderate or high impact, are specifically indicated (25).
5NEC-02002 contained two different mutations in RECQL4: a frameshift mutation at chr8:144512965 and a missense mutation at chr8:144515376. VAF, variant allele frequency.