Table 4 Summary of patients undergoing germline verification using Sanger sequencing
Patient | Cancer type | Age | Sex | Family history | Gene | Variant | ClinVar | VAF | SangerSeq |
|---|---|---|---|---|---|---|---|---|---|
1 | Rectal AC | 57 | Male | – | TP53 | G245D | Pathogenic | 0.48 | Negative |
2 | Gastric AC | 82 | Male | Esophageal (F) | BRCA1 TP53 | Q934* R175H | Pathogenic Pathogenic | 0.69 0.44 | Positive Negative |
3 | Pancreatic AC | 47 | Male | Pancreatic (F), Pancreatic (M) | SMAD4 TP53 | Q448* T125R | Pathogenic Conflicting | 0.62 0.62 | Negative Negative |
4 | Pancreatic AC | 68 | Female | Gastric (M) | BRCA2 TP53 | R2318* Q165* | Pathogenic Pathogenic | 0.44 0.29 | Positive Negative |
5 | Esophageal SCC | 62 | Male | Pancreatic (F), Colon (M) | TP53 | W91* | Pathogenic | 0.21 | Negative |
6 | Uterine AC | 48 | Female | Bile duct (F), Lymphoma (GF), Lung (GM) | STK11 | H174Y | Uncertain significance | 0.40 | Negative |
7 | Gastric AC | 74 | Male | Pancreatic (B) | BRCA2 TP53 | Q3026* c.783-1 G > T | Pathogenic – | 0.48 0.22 | Positive Negative |
8 | Urothelial carcinoma | 64 | Male | Malignant tumor (M) | RB1 | Q62* | – | 0.38 | Negative |
9 | Ovarian AC | 41 | Female | – | PTEN PTEN | C136Y D51fs | Pathogenic – | 0.29 0.28 | Negative Negative |
