Table 2.
Summary of genetic findings, allele fractions, and clinical diagnoses in patients with incidental findings identified through NGS-MGP testing on peripheral blood leukocyte (PBL)-derived DNA.
| Patient ID | Gene | PBL Variant | PBL Allele Fraction (Age) | Secondary Finding Category | Direct Skin Biopsy Allele Fraction | Cultured Fibroblast Allele Fraction | Tumour Tissue Allele Fraction | Dx Conclusion | |
|---|---|---|---|---|---|---|---|---|---|
| 2 | TP53 | c.524 G > A | p.(Arg175His) |
5.8% (66) 3.8% (67) 1.3% (68) |
2,3 | 0% | 0% | NA | CH |
| 3 | TP53 | c.747 G > T | p.(Arg249Ser) | 13.9% (78) | 2,3 | 0% | NA | 0% | CH |
| 6.7% (79) | |||||||||
| 5 | TP53 | c.742 C > T | p.(Arg248Trp) | 12.0% (69) | 2,3 | NA | NA | NA | Likely CH (Deceased) |
| 6 | TP53 | c.586 C > T | p.(Arg196*) | 13.8% (56) | 2,3 | 3.80% | NA | NA | Likely CH |
| 14.9% (56) | |||||||||
| 7 | TP53 | c.743 G > A | p.(Arg248Gln) | 23.4% (38) | 2,3 | NA | 21% | NA | TP53 mosaic |
| 21.5% (38) | |||||||||
| 25.2% (39) | |||||||||
| 21.2% (40) | |||||||||
| 8 | TP53 | c.1118delA | p.(Lys373Argfs*49) | 13.8% (71) | 2,3 | NA | NA | NA | Likely CH (Deceased) |
| 10 | TP53 | c.733 G > A | p.(Gly245Ser) | 32.7% (71) | 2,3 | TP53: c.880 G > T, p(Glu294*) 12.2% | All 3 TP53 variants 0% | NA | CH |
| 32.8% (71) | TP53: c.380 C > T, p.(Ser127Phe) 6.2% | ||||||||
| 11 | TP53 | c.659 A > G | p.(Tyr220Cys) | 53.3% (74); 82.3% (75) | 1,3 | 5.1% | 0% | NA | Chronic Lymphocytic Leukemia-related |
| c.(?_21-)_(*21_?)del whole gene deletion | 35% (74); 40% (75) | NA (DNA poor quality) | 0% | ||||||
| 12 | TP53 | c.818 G > A | p.(Arg273His) | 27.4% (83) | 2,3 | 2.90% | 0% | NA | Multiple Myeloma related |
| 13 | TP53 | c.542 G > A | p.(Arg181His) | 10.6% (52) | 2,3 | 2.20% | 0% | NA | CH |
| 15.0% (53) | |||||||||
| 14 | TP53 | c.537 T > A | p.(His179Gln) | 17.8% (82) | 2,3 | NA | NA | NA | Likely CH (Deceased) |
| 15 | TP53 | c.818 G > A | p.(Arg273His) | 10.4% (70) | 2,3 | 0% (muscle) | NA | NA | CH |
| 16 | TP53 | c. 438 G > A | p.(Trp146*) | 29.0% (63) | 1,3 | NA | NA | NA | Likely CH |
| c.811 G > T | p.(Glu271*) | 38.0% (63) | |||||||
| 18 | ATM | c.(?_21)_(*21_?)del whole gene deletion | 10-15% (80) | 2 | 0% | 0% | NA | CH | |
| 19 | ATM | c.7736_7737insC | p.(Arg2579Serfs*7) | 15.0% (62) | 2 | 5% | NA | NA | Likely CH |
| 22 | ATM | c.(?_−21)_(*21_?)del whole gene deletion | 20.0% (71) | 2 | NA | NA | NA | Likely CH (Deceased) | |
| 24 | CHEK2 | c.1111 C > T | p.(His371Tyr) | 27.3% (69) | 1,2 | NA | NA | NA | Likely CH |
| BRCA1 | c.5503 C > T | p.(Arg1835*) | 50% (69) | Likely germline BRCA1 | |||||
| 27 | CHEK2 | c.684-1 G > A | 11.7% (68) | 2 | 0.87% | NA | NA | Likely CH | |
| 10.2% (68) | |||||||||
| 29 | TP53 | c. 375 G > A | p.T125T Splice | 50% (53) | 3 | NA | 50% | NA | Full germline |
| 33 | BRCA1 | c.1195_1196delCA | p.(His339*) | 23.6% (58) | 2 | 27.0% | 24% | NA | BRCA1 mosaic |
| 40 | APC | c.1383_1390del insATGAATGA | p.(His462*) | 7.2% (33) | 2 | NA | NA | present in duodenal polyp (no AF) | APC mosaic |
| 41 | TP53 | c.743 G > A | p.(Arg248Gln) | 47.5% (77) | 1,3 | NA | NA | 3.5% (breast tumour) | Likely CH |
| APC | c.(?_−20)_(*21_?)del whole gene deletion | ~30% (77) | NA | ||||||
| 42 | TP53 | c.637 C > T | p.(Arg213*) | 32.6% (73) | 3 | NA | 0% | NA | CH |
| 43 | TP53 | c.818 G > A | p.(Arg273His) | 37.1% (75) | 3 | NA | 0% | NA | CH |
PBL Peripheral Blood Leukocyte, Dx Diagnosis, CH Clonal hematopoiesis.