Table 2.
Clinical characteristics and frequency of P/LP CDKN2A variants among tested individuals.
| Patient № | Gender | Diagnosis | Stage | Histological Characteristics | Chromosomal Change | Coding | Protein | ACMG | Cancer Cases in Family History |
GnomAD Exomes |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | F (42) |
C24.0 Biliary tract cancer |
IIB | Adenocarcinoma, G2 | chr9:21971051delCG | c.307_308del | p.Arg103AlafsTer16 | P | + | Not found |
| C19 Colorectal cancer |
I | Adenocarcinoma (KRAS, NRAS, BRAF negative) |
||||||||
| 2 | F (36) |
D23.5 Dysplastic nevus |
Dysplastic nevus, low grade | chr9:21974757C>G | c.71G>C | p.Arg24Pro | P | + | ƒ = 0.0000169 | |
| 3 | M (64) |
C25.1 Malignant neoplasm: Body of pancreas. |
III | Adenocarcinoma, G2 | chr9:21974757C>G | c.71G>C | p.Arg24Pro | P | + | ƒ = 0.0000169 |
| 4 | M (62) |
C25.0 Malignant neoplasm: Head of pancreas. |
IV | Adenocarcinoma, G2 | chr9:21971051delCG | c.307_308del | p.Arg103AlafsTer16 | P | + | Not found |
| 5 | F (41) |
C25.0 Malignant neoplasm: Head of pancreas. |
II | Neuroendocrine tumor, G1 | chr9:21971200C>0 | c.159G>C | p.Met53Ile | P | + | ƒ = 0.00000905 |
| C43.0 Melanoma |
II | Melanoma | ||||||||
| 6 | F (51) |
C25.0 Malignant neoplasm: Head of pancreas. |
III | Adenocarcinoma, high grade | chr9:g.21971051delCG | c.307_308del | p.Arg103AlafsTer16 | P | + | Not found |
NM_000077.5 F—female, M—male, P—pathogenic. ACMG—American College of Medical Genetics and Genomics; GnomAD—The Genome Aggregation Database. Cancer cases in family history are presented in the Supplementary Materials (Figure S1).