Table 1.
Pathogenic variants identified in this study.
| n. |
Patient ID |
Variant (HGVS) GRCh37 | Gene with Variant | dpSNP (Varsome Link) | Type of Variant | MAF gnomAD% |
Clinvar Classification | Ref | Type of Cancer |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 558/19 | chr17:g.41258504A>C c.181T>G (p.Cys61Gly) |
BRCA1 | rs28897672 | missense | 0.0031 | Pathogenic | [20] | Ovarian cancer |
| 2 | 673/19 | chr11:g.108186742C>T c.6100C>T (p.Arg2034Ter) |
ATM | rs532480170 | nonsense | 0.0004 | Pathogenic | [21,22] | Breast cancer |
| 3 | 764/19 | chr17:g.7578204del c.645delT (p.Ser215ArgfsTer32) |
TP53 | NR | frameshift | NR | Pathogenic | [11] | Li–Fraumeni |
| 4 | 775/19 | chr11:g.108236087G>A c.9023G>A (p.Arg3008His) |
ATM | rs587781894 | missense | NR | Likely pathogenic |
[23,24,25,26,27] | Prostate cancer |
| 5 | 99/21 | chr22:g.29105993C>A c.846+1G>C | CHEK2 | rs864622149 | splice-site | NR | Likely pathogenic |
[28,29] | Breast cancer |
| 6 | 164/21 | chr17:g.41267741A>G c.134+2T>C | BRCA1 | rs80358131 | splice-site | NR | Pathogenic | [20,30] | Breast cancer |
| 7 | 223/21 | chr13:g.32944695G>A c.8487+1G>A | BRCA2 | rs81002798 | splice-site | NR | Pathogenic | [31,32,33] | Breast cancer |
| 8 | 279/21 | chr13:g.32921033G>A c.7007G>A (p.Arg2336His) | BRCA2 | rs28897743 | splice-site (*) | NR | Pathogenic | [34,35,36] | Breast cancer |
| 9 | 365/21 | chr13:g.32907285T>G c.1670T>G (p.Leu557Ter) | BRCA2 | rs80358452 | nonsense | NR | Pathogenic | [37,38,39] | Breast cancer |
| 10 | 432/21 | chr16:g.23646416A>C c.1451T>G (p.Leu484Ter) |
PALB2 | rs786203714 | nonsense | NR | Pathogenic | [40,41,42,43] | Breast cancer |
| 11 | 488/21 | chr17:g.7578479G>C c.451C>G (p.Pro151Ala) | TP53 | NR | missense | NR | Likely pathogenic |
[44,45] | Breast cancer |
| 12 | 713/21 | chr13:g.32907526T>A c.1909+2T>A |
BRCA2 | rs876658577 | splice-site | NR | Likely pathogenic |
NR | Breast cancer |
| 13 | 812/21 | Chr2:g.47429869del c.1204del (p.Gln402LysfsTer10) |
MSH2 | rs63751413 | frameshift | NR | Pathogenic | [46] | Colon cancer |
| 14 | 930/21 | chr13:g.32333148T>G c.1670T>G (p.Leu557Ter) |
BRCA2 | rs80358452 | nonsense | NR | Pathogenic | [37] | Breast cancer |
| 15 | 943/21 | chr17:g.41223012_41223030del c.4964_4982del p.(Ser1655TyrfsTer16) |
BRCA1 | rs1555580678 | frameshift | NR | Pathogenic | NR | Breast cancer |
| 16 | 22/22 | chr17:g.7578555C>T c.376-1G>A |
TP53 | rs868137297 | splice-site | 0.00000657 | Pathogenic | [47] | Breast cancer |
| 17 | 69/22 | chr17:g.431157724A>C c.134+2T>G |
BRCA1 | rs80358131 | splice-site | NR | Pathogenic | [48] | Breast cancer |