Table 4.
Detected variants in the BRCA1 and BRCA2 gene for each patient. VAF: variant allele frequency; CN: copy number.
| Patient | BRCA1 | BRCA2 | VAF in the Tested Somatic Sample (%) | Copy Number (CN) Call in the Tested Somatic Sample | Confirmed in the Matched Germline Sample | sBRCA/ gBRCA |
|---|---|---|---|---|---|---|
| 1 | / | / | / | BRCA2DEL entire gene; CN = 1 | no | somatic |
| 2 | / | c.993_994delAAinsG,p.(Ile332PhefsX17) | 52.6 | no | somatic | |
| 3 | c.4675+1G>A | / | 5.4 | no | somatic | |
| 4 | / | / | / | BRCA1DEL Exons16-20; CN = 1 | no | somatic |
| 5 | / | c.8629G>T, p.(Glu2877Ter) | 16 | no | somatic | |
| 6 | / | c.5073dupA, p.(Trp1692Metfs*3) | 8.6 | no | somatic | |
| 7 | / | / | / | BRCA1DEL entire gene; CN = 1 | no | somatic |
| 8 | c.331G>T, p.(Glu111Ter) | / | 50.2 | no | somatic | |
| 9 | / | / | / | BRCA1DEL entire gene; CN = 1 | no | somatic |
| c.2269delG, p.Val757PhefsX8 | / | 59.2 | no | somatic | ||
| 10 | / | / | / | BRCA1DEL entire gene; CN = 1 | no | somatic |
| 11 | / | / | / | BRCA2DEL entire gene; CN = 1 | no | somatic |
| 12 | c.1687C>T, p.(Gln563*) | / | 79.5 | no | somatic | |
| / | / | / | BRCA2DEL entire gene; CN = 1 | no | somatic | |
| 13 | / | / | / | BRCA1DEL entire gene; CN = 1 | no | somatic |
| 14 | / | / | / | BRCA2DEL entire gene; CN = 1 | no | somatic |
| 15 | / | / | / | BRCA2DEL entire gene; CN = 1 | no | somatic |
| 16 | / | / | / | BRCA2DEL entire gene; CN = 1 | no | somatic |
| 17 | / | / | / | BRCA2DEL entire gene; CN = 1 | no | somatic |
| 18 | / | / | / | BRCA2DEL entire gene; CN = 1 | no | somatic |
| 19 | / | / | / | BRCA2DEL entire gene; CN = 1 | no | somatic |
| 20 | / | / | / | BRCA2DEL entire gene; CN = 1 | no | somatic |
| 21 | / | / | / | BRCA1DEL entire gene; CN = 1 | no | somatic |
| 22 | c.2670delG, p.Ser891Profs*2 | / | 50.5 | no | somatic | |
| 23 | / | c.6611delC, p.(Pro2204Leufs*2) | 54.3 | no | somatic | |
| / | / | / | BRCA2DEL entire gene; CN = 1 | no | somatic | |
| 24 | / | / | / | BRCA1DEL entire gene; CN = 1 | no | somatic |
| 25 | c.3916_3917delTT, p.Leu1306AspfsX23 | / | 78.9 | yes | germline | |
| 26 | / | c.7975A>G, p.(Arg2659Gly) | 80 | yes | germline | |
| 27 | / | c.3847_3848delGT, p.(Val1283LysfsX2) | 85 | yes | germline | |
| 28 | / | c.6037A>T, p.(Lys2013Ter) | 85 | yes | germline | |
| 29 | c.547+2T>A | / | 83.4 | yes | germline | |
| 30 | c.2157_2160delAGAA, p.(Lys719AsnfsX16) | / | 92.8 | yes | germline | |
| 31 | c.4357+1delG | / | 90 | yes | germline | |
| 32 | c.3607C>T, p.(Arg1203Ter) | / | 59,2 | yes | germline | |
| 33 | c.4096+1G>A | / | 73.4 | yes | germline | |
| 34 | c.3481_3491delGAAGATACTAG, p.(Glu1161PhefsTer3) | / | 91.4 | yes | germline | |
| 35 | c.843_846delCTCA, p.(Ser282TyrX15) | / | 83.2 | yes | germline | |
| / | / | / | BRCA1DEL entire gene; CN = 1 | no | somatic | |
| 36 | c.3288_3289delAA, p.(Leu1098SerfsX4) | / | 94.6 | yes | germline | |
| 37 | c.5434C>G, p.(Pro1812Ala) | / | 63.8 | yes | germline | |
| 38 | / | c.9097dupA, p.(Thr3033AsnfsX11) | Tissue not available | yes | germline | |
| 39 | c.5017_5019delCAC, p.(His1673del) | / | 64.8 | yes | germline | |
| 40 | / | c.5722_5723delCT, p.(Leu1908Argfs*2) | 60.3 | yes | germline | |
| 41 | / | c.7180A>T, p.(Arg2394*) | 78.7 | yes | germline | |
| 42 | c.3916_3917delTT, p.(Leu1306Aspfs*23) | / | 76 | yes | germline | |
| 43 | c.4508C>A, p.(Ser1503*) | / | 88.6 | yes | germline | |
| 44 | c.4484G>T, p.(Arg1495Met) | / | 73 | yes | germline | |
| 45 | c.2157_2160delAGAA, p.(Lys719Asnfs*16) | / | 84.3 | yes | germline | |
| 46 | c.3979C>T, p.(Gln1327*) | / | 84.6 | yes | germline | |
| 47 | / | c.9154C>T, p.(Arg3052Trp) | 59.3 | yes | germline | |
| 48 | / | / | / | BRCA1DEL Promotor-Exon2; CN = 1 | yes | germline |
| 49 | / | c.3847_3848delGT, p.(Val1283Lysfs*2) | 77.4 | yes | germline | |
| / | / | / | BRCA2DEL entire gene; CN = 1 | no | somatic | |
| 50 | c.3916_3917delTT, p.(Leu1306Aspfs*23) | / | 70.2 | yes | germline | |
| 51 | / | c.7558C>T, p.(Arg2520*) | 5.8 | yes | germline |