Table 1 Clinical characteristics and ancillary testing summary
From: Somatic TP53 variants frequently confound germ-line testing results
Totals, n(%) | MGPT | TP53gene-specific | Pvalue | |
|---|---|---|---|---|
Total testing inclusive of TP53 | 116,084 | 114,630 | 1,454 | |
Total TP53-positive cases | 353 | 285 | 68 | |
Evidence for ACE | 72 (20.4%) | 66 (23.2%) | 6 (8.8%) | P = 0.005 |
Gender | ||||
Female | 69 (95.8%) | 64 (97%) | 5 (83.3%) | |
Male | 3 (4.2%) | 2 (3%) | 1 (16.7%) | |
Average age at testing (years) | 57 | 58.5 | 39.5 | P = 0.009 |
Two TP53 mutations | 5 (6.9%) | 4 (6.1%) | 1 (16.7%) | ns |
Other pathogenic variant | 8 (11.1%) | 8 (12.1%) | N/A | |
Personal history of any cancera | 68 (94.4%) | 62 (94%) | 6 (100%) | ns |
Age at diagnosis of first primary cancer (years) | 48.5 | 50 | 33.7 | P = 0.02 |
Meets criteria for TP53 testing | ||||
Breast cancer diagnosis <31 years | 7 (9.7%) | 6 (9.1%) | 1 (16.7%) | ns |
Chompret criteria | 4 (5.6%) | 2 (3%) | 2 (33.3%) | P = 0.002 |
Any relativesb with cancera | 59 (81.9%) | 54 (81.8%) | 5 (83.3%) | ns |
Any relativesb with childhood cancera | 2 (2.8%) | 1 (1.5%) | 1 (16.7%) | P = 0.031 |
Cases with ancillary testing | 35 (48.6%) | 30 (45.5%) | 5 (83.3%) | |
Had relatives undergo testing | 22 (30.6%) | 18 (27.3%) | 4 (66.7%) | P = 0.046 |
Had relatives test positive | 2 (9.1%) | 0 (0%) | 2 (50%) | P = 0.002 |
Tissue testing performed | 19 (26.4%) | 17 (25.8%) | 2 (33.3%) | ns |
Non-lymphoid tissue–positive | 2 (10.5%) | 1 (5.9%) | 1 (50%) | P = 0.062 |
Results of ancillary testing | ||||
Evidence confirming ACE | 32 (91.4%) | 29 (96.7%) | 3 (60%) | P = 0.007 |
Evidence supporting germ line | 3 (8.6%) | 1 (3.3%) | 2 (40%) | ns |
