Table 2.
Pathogenic (V) or likely pathogenic (IV) variants identified in our patients with Lynch-like syndrome.
| ID Case | Gene | Pathogenic Variant | REVEL | AF | (Class) 1 | Tumor Site |
Age 2 | Criteria Fulfilled |
|---|---|---|---|---|---|---|---|---|
| 1194 | PPARG |
NM_015869.5:c.1230C > A p.(Ser410Arg) |
0.767 | 1.60 × 10−5 | (IV) | ovary | 44 | Bethesda * |
| 142 | MUTYH |
NM_001128425.2:c.1187G > A p. (Gly396Asp) |
0.954 | 3.00 × 10−3 | (V) | colorectal | 39 | Bethesda |
| 1728 | POLN |
NC_000004.11(NM_181808.2):c.1375-2A > G splicing variant |
- | 4.07 × 10−6 | (V) | colorectal | 57 | Bethesda * |
| 313 | CTC1 |
NM_025099.6:c.19C > T p. (Gln7Ter) |
- | 1.68 × 10−5 | (V) | colorectal | 48 | Bethesda * |
| 573 | ALPK1 |
NM_001102406.2:c.3428_3431del p. (Asn1143ThrfsTer5) |
- | - | (IV) | stomach colorectal |
44 49 |
Bethesda |
| 635 | DCC |
NM_005215.4:c.1861G > A p. (Val621Met) |
0.303 | 2.00 × 10−4 | (IV) | colorectal non-melanoma skin |
50 56 |
Bethesda * |
| 837 | ATM |
NC_000011.9(NM_000051.3):c.3993 + 1G > A splicing variant |
- | 1.60 × 10−5 | (V) | endometrium breast |
53 58 |
Bethesda * |
| ST18 |
NM_014682.2:c.2093del p. (Lys698SerfsTer24) |
- | - | (IV) |
Af: allele frequency on gnomAD; ACMG: American College of Medical Genetics and Genomics criteria; 1 Variant classification according to ACMG criteria; 2 Age at first diagnosed tumor; * Revised Bethesda Guidelines.