Table 3.
Medical and family history of LFS- or HBOC-related cancers in patients undergoing tumor-only NGS assay
Medical and family history of LFS-related cancersa | No. of patients with variants in TP53 (%) | ||
---|---|---|---|
With possible SFs (n = 91) | Tested SangerSeq (n = 6) | With true SFs (n = 0) | |
In | |||
P + FDR + SDR | 0 (0) | 0 (0) | 0 (–) |
P + FDR | 4 (6.1) | 0 (0) | 0 (–) |
P + SDR | 0 (0) | 0 (0) | 0 (–) |
P | 2 (3.0) | 0 (0) | 0 (–) |
FDR + SDR | 0 (0) | 0 (0) | 0 (–) |
FDR | 4 (6.1) | 0 (0) | 0 (–) |
LFS criteria matched | 0 (0) | 0 (0) | 0 (–) |
Medical and family history of HBOC-related cancersb | No. of patients with variants in BRCA1 or BRCA2 (%) | ||
---|---|---|---|
With possible SFs (n = 11) | Tested SangerSeq (n = 3) | With true SFs (n = 3) | |
In | |||
P + FDR + SDR | 0 (0) | 0 (0) | 0 (0) |
P + FDR | 1 (9.1) | 0 (0) | 0 (0) |
P + SDR | 0 (0) | 0 (0) | 0 (0) |
P | 5 (45.5) | 1 (33.3) | 1 (33.3) |
FDR + SDR | 0 (0) | 0 (0) | 0 (0) |
FDR | 1 (9.1) | 1 (33.3) | 1 (33.3) |
HBOC criteria matched | 1 (9.1) | 0 (0) | 0 (0) |
aSarcoma, breast cancer, brain tumor, adrenocortical carcinoma, leukemia, or lung cancer
bBreast cancer, ovarian cancer, prostate cancer, or pancreatic cancer
SFs secondary findings, LFS Li–Fraumeni syndrome, HBOC hereditary breast and ovarian cancer, P patient, FDR first degree relatives, SDR second degree relatives