Table 1.
Genes with identified CH variants and the study(-ies) that identified them.
| Gene | Study(-ies) |
|---|---|
| ANKRD36 | Valentine et al. (AML: 13/13) |
| ATM | Sharapova et al. (ALL: 1/1); Piane et al. (astrocytoma: 1/1); Zhang et al. (HGG: 1/99) |
| BRCA2 | Waszak et al. (MB: 4/1022); Gröbner et al. (MB: 1/42); Svojgr et al. (WT: 1/1, MB: 1/1) |
| CEP55 | Spinella et al. (ALL: 2/2) |
| DDX41 | Diness et al. (myeloid neoplasm: 1/1) |
| DNAH2 | Spinella et al. (ALL: 2/2) |
| ENOSF1 | Zhang et al. (HB: 2/2) |
| FAM83H | Diets et al. (ALL: 1/13) |
| FLG | Valentine et al. (AML: 3/13) |
| GRIK1 | Diets et al. (ALL: 1/13) |
| H1-2 | Diets et al. (NHL: 1/3) |
| IRF5 | Diets et al. (WT: 1/1) |
| KMT2C | Valentine et al. (ALL: 6/12; AML: 13/13) |
| MSH6 | Gröbner et al. (HGG: 2/67); Bakry et al. (NHL: 1/5; GB: 1/8); Peters et al. (NHL: 1/1); Scott et al. (MB + AML: 1/1); Okkels et al. (colorectal: 1/1); Østergaard et al. (NHL: 1/1; GB: 1/1); |
| MUC4 | Zhang et al. (HB: 2/2) |
| MYO18B | Schieffer et al. (MB: 1/1) |
| NUDT15 | Moriyama et al. (ALL: 1/5) |
| PDE4DIP | Spinella et al. (ALL: 2/2) |
| PMS2 | Gröbner et al. (HGG: 1/67); Bakry et al. (NHL: 1/5; NHL + GB + oligodendroglioma: 1/1; rectal cancer + GB: 1/1); Chmara et al. (GB + NHL: 1/1); Herkert et al. (colon adenoma: 1/1; ALL + rectal adenoma: 1/1); Leenen et al. (NN: 1/1; astrocytoma: 1/1); De Rosa et al. (oligodendroglioma + colon carcinoma: 1/1) |
| RBMX | Valentine et al. (ALL: 6/12) |
| RECQL4 | Maciaszek et al. (OS: 1/1); Salih et al. (OS: 1/1) |
| RYR1 | Valentine et al. (AML: 9/13) |
| SDHB | Majumdar et al. (paraganglioma: 1/1) |
| SLX4 | Spinella et al. (ALL: 2/2) |
| TP53 | Quesnel et al. (rhabdomyosarcoma + brain tumor: 1/1) |
The details in parentheses next to the author name indicate the cancer type(s) associated with each CH variant, the number of patients evaluated in the study, and the number of patients who had a CH variant in that gene. For example, Valentine et al. evaluated 13 AML patients and identified a CH variant in all 13 patients for the ANKRD36 gene. AML, acute myeloid leukemia; ALL, acute lymphoblastic leukemia; HGG, high-grade glioma; MB, medulloblastoma; WT, Wilms tumor; HB, hepatoblastoma; NHL, non-Hodgkin's lymphoma; GB, glioblastoma; NN, neuroepithelial neoplasm; OS, osteosarcoma.