Table 2.
Details of genes with identified CH variants.
| Gene | Gene CDS length | Total gene length | Cancer pathway (KEGG) | Germline tumor types (COSMIC) | Role in cancer (COSMIC) |
|---|---|---|---|---|---|
| ANKRD36 | 5,678 | 151,216 | – | – | – |
| ATM | 9,272 | 146,618 | – | Leukemia; lymphoma; medulloblastoma; glioma | TSG |
| BRCA2 | 10,415 | 85,180 | Yes | Breast; ovarian; pancreatic; leukemia | TSG |
| CEP55 | 1,454 | 32,480 | – | – | – |
| DDX41 | 1,802 | 5,384 | – | – | – |
| DNAH2 | 13,320 | 116,390 | – | – | – |
| ENOSF1 | 1,337 | 42,344 | – | – | – |
| FAM83H | 5,192 | 14,301 | – | – | – |
| FLG | 12,181 | 23,074 | – | – | – |
| GRIK1 | 2,887 | 403,100 | – | – | – |
| H1-2 | 638 | 641 | – | – | – |
| IRF5 | 1,493 | 12,581 | – | – | – |
| KMT2C | 15,426 | 301,083 | – | – | TSG |
| MSH6 | 3,591 | 114,571 | Yes | Colorectal; endometrial; ovarian | TSG |
| MUC4 | 10,911 | 65,208 | – | – | Oncogene |
| MYO18B | 7,889 | 288,897 | – | – | – |
| NUDT15 | 489 | 9,495 | – | – | – |
| PDE4DIP | 7,104 | 240,105 | – | – | Fusion |
| PMS2 | 2,463 | 38,181 | – | Colorectal; endometrial; ovarian; medulloblastoma; glioma | TSG |
| RBMX | 1,166 | 32,760 | – | – | – |
| RECQL4 | 3,252 | 6,557 | – | Osteosarcoma; skin basal cell; skin squamous cell | Oncogene; TSG |
| RYR1 | 14,835 | 153,873 | – | – | – |
| SDHB | 778 | 35,310 | – | Paraganglioma; pheochromocytoma | TSG |
| SLX4 | 5,488 | 30,425 | – | – | – |
| TP53 | 1,194 | 25,771 | Yes | Breast; sarcoma; adrenocortical carcinoma; glioma; multiple other tumor types | Oncogene; TSG; fusion |
The average CDS gene length across all studies was 5,610 and the average total gene length was 95,022. ATM, BRCA2, MSH6, PMS2, RECQL4, SDHB, and TP53 are all associated with germline tumor types and are known tumor suppressor genes as classified by COSMIC. BRCA2, MSH6, and TP53 are all part of a cancer pathway as classified by KEGG. A value of “–” indicates that an association was not observed. TSG, tumor suppressor gene.