Table 2 The list of all variants found and their recurrence in the mutated genes in our cohort
From: Molecular profiling of basal cell carcinomas in young patients
Genes | Number of patients with variants (percentages) | |
|---|---|---|
Genes of interest | PTCH1 | 17 (64.3%) |
TP53 | 6 (21.4%) | |
SMO | 3 (10.7%) | |
RB1 | 2 (7.1%) | |
MYCN | 1 (3.6%) | |
Additional genes | RBM10 | 23 (82.1%) |
PALB2 | 16 (57.1%) | |
ATRX | 15 (53.6%) | |
APC | 11 (39.3%) | |
TSC1 | 8 (28%) | |
KMT2C | 7 (25%) | |
ATM | 6 (21.5%) | |
FANCC, MSH6, NBN | 4 (14.3%) | |
BRCA2, CREBBP, EZH2, KMT2D, NF1 | 3 (10.7%) | |
BMPR1A, BRCA1, RBB4, RAD50 | 2 (7.1%) | |
AR, ASXL1, ATR, AXIN2, CDH1, EP300, ERCC2, FANCA, FGFR1, IRF1, JAK3, KDM5C, KMT2A, MLH1, MUTYH, PMS2, PPP2R1A, PTPN11, RAD51B, RBBP8, RHOA, SEDT2, SMARCB1, XRCC2 | 1 (3.6%) |