Table 4.
Null Variants in Genes Associated with Cancer
| Gene | Transcript | Variant (dbSNP) | Effect | Proband Cancer | Cancer in Family (1st and 2nd degree) | Heterozygous Cancer Risk1 |
|---|---|---|---|---|---|---|
| DLEC1 | NM_007335.2 | c.5068_5071dupAACA:p.Ser1691fs (rs577236284) | frameshift | UM | UM, CM, SCC, BCC, thyroid | - |
| MMS19 | NM_022362.4 | c.733_734delCT:p.Leu245fs | frameshift | UM, CM | UM, skin | - |
| POLI | NM_007195.2 | c.729_732delAACA:p.Thr244fs (rs747005866) | frameshift | UM | UM, CASU, Leukemia, Hodgkins, Lung, colon, stomach, prostate | - |
| TP53AIP1 | NM_022112.2 | c.63dupG:p.Gln22fs (rs141395772) | frameshift | UM | UM, CM, breast, ovarian | Cutaneous melanoma |
| RECQL4 | NM_004260.3 | c.1573delT, p.Cys525fs (rs386833845) | frameshift | UM, RCC | UM, colon, cervical, lung | Osteosarcoma |
Total of 29 unrelated proband with UM assessed by whole exome sequencing
1
Only the most commonly associated cancer types are listed.
BCC: Basel Cell Carcinoma; CASU: Cancer Site Unknown; CM: Cutaneous Melanoma; RCC: Renal Cell Carcinoma; SCC: Squamous Cell Carcinoma; UM: Uveal Melanoma