Table 4.
Summary of pathogenic and likely pathogenic BRCA variants identified.
| No | Exon | Variant | Allele Frequency | Cellularity, % | Amino Acid Change | Mutation Type | Mutation Effect | LOH Status |
|---|---|---|---|---|---|---|---|---|
| BRCA1 | ||||||||
| 1 | 22–23 | c.5333-?_5467+?del | Unknown | 70 | p.(Asp1778_His1822del) | Deletion | Frameshift | None |
| 2 | 18 | c.5141_5144del | 0.642 | 80 | p.(Val1714fs) | Deletion | Frameshift | BRCA2 only |
| 3 | 11 | c.3607C>T | 0.541 | 80 | p.(Arg1203*) | Substitution | Stop codon | BRCA2 only |
| 4 | 15 | c.4485-10_4491del | 0.362 | 80 | p.(Arg1495fs) | Deletion | Frameshift | None |
| 5 | 19 | c.5154G>A | 0.050 | 90 | p.(Trp1718*) | Substitution | Stop codon | BRCA1 and BRCA2 |
| 6 | 11 | c.1387_1390delinsGAAAG | 0.855 | 80 | p.(Lys463Glufs*17) | Indel | Frameshift | BRCA1 and BRCA2 |
| 7 | 11 | c.2263G>T | 0.399 | 60 | p.(Glu755*) | Substitution | Stop codon | BRCA1 and BRCA2 |
| 8 | 11 | c.3476del | 0.704 | 80 | p.(Ile1159fs) | Deletion | Frameshift | BRCA1 and BRCA2 |
| 9 | 5 | c.212+3A>G | 0.802 | 70 | p.? | Substitution | Splicing | BRCA1 and BRCA2 |
| 10 | 11 | c.1961del | 0.631 | 80 | p.(Lys654fs) | Deletion | Frameshift | BRCA2 only |
| 11 | 24 | c.5497G>A | 0.927 | 80 | p.(Val1833Met) | Substitution | Missense | BRCA1 and BRCA2 |
| 12 | 11 | c.2365del | 0.642 | 70 | p.(Ser789Alafs*3) | Deletion | Frameshift | BRCA2 only |
| 13 | 11 | c.2827A>T | 0.304 | 80 | p.(Lys943*) | Substitution | Stop codon | BRCA1 only |
| 14 | 11 | c.3225_3226del | 0.685 | 80 | p.(Asn1075fs) | Deletion | Frameshift | BRCA1 and BRCA2 |
| 15 | 11 | c.2188G>T | 0.800 | 80 | p.(Glu730*) | Substitution | Stop codon | BRCA1 and BRCA2 |
| 16 | 2 | c.3G>A | 0.632 | 70 | p.(Met1?) | Substitution | Missense | None |
| 17 | 16 | c.4689C>G | 0.802 | 60 | p.(Tyr1563*) | Substitution | Stop codon | None |
| 18 | 14 | c.4484G>T | 0.686 | 40 | p.(Arg1495Met) | Substitution | Splicing | BRCA1 only |
| 19 | 24 | c.5468-2A>G | 0.503 | 20 | p.? | Substitution | Splicing | BRCA2 only |
| 20 | 11 | c.2269del | 0.173 | 10 | p.(Val757fs) | Deletion | Frameshift | None |
| 21 | 11 | c.3481_3491del | 0.585 | 70 | p.(Glu1161fs) | Deletion | Frameshift | BRCA2 only |
| 22 | 21 | c.5324T>G | 0.628 | 80 | p.(Met1775Arg) | Substitution | Missense | BRCA1 and BRCA2 |
| 23 | 14 | c.4372C>T | 0.154 | 70 | p.(Gln1458*) | Substitution | Stop codon | None |
| 24 | 9 | c.593+1G>A | 0.051 | 80 | p.? | Substitution | Splicing | BRCA1 only |
| 25 | 11 | c.1603G>T | 0.715 | 80 | p.(Gly535*) | Substitution | Stop codon | BRCA1 only |
| 26 | 11 | c.1390_1391insG | 0.674 | 80 | p.(Thr464Serfs*16) | Insertion | Frameshift | BRCA1 only |
| 27 | 11 | c.1504_1508del | 0.743 | 80 | p.(Leu502Alafs*2) | Deletion | Frameshift | BRCA1 and BRCA2 |
| 28 | 16 | c.4689C>G | 0.818 | 70 | p.(Tyr1563*) | Substitution | Stop codon | BRCA1 and BRCA2 |
| 29 | 19 | c.5193+1G>T | 0.614 | 90 | p.? | Substitution | Splicing | BRCA1 only |
| 30 | 21 | c.5296del | 0.391 | 90 | p.(Ile1766Serfs*27) | Deletion | Frameshift | BRCA1 only |
| BRCA2 | ||||||||
| 31 | 11 | c.4321G>T | 0.616 | 60 | p.(Glu1441*) | Substitution | Stop codon | BRCA2 only |
| 32 | 11 | c.5238dupT | 0.681 | 50 | p.(Asn1747fs) | Duplication | Frameshift | BRCA2 only |
| 33 | 11 | c.5073dup | 0.848 | 80 | p.(Trp1692fs) | Duplication | Frameshift | BRCA1 and BRCA2 |
| 34 | 9 | c.755_758del | 0.711 | 80 | p.(Asp252fs) | Deletion | Frameshift | BRCA1 and BRCA2 |
| 35 | 23 | c.8954-1G>A | 0.863 | 70 | p.? | Substitution | Splicing | None |
| 36 | 9 | c.712G>T | 0.072 | 50 | p.(Glu238*) | Substitution | Stop codon | None |
| 37 | 8 | c.658_659del | 0.495 | 40 | p.(Val220fs) | Deletion | Frameshift | BRCA1 and BRCA2 |
| 38 | 11 | c.6808_6836del | 0.320 | 40 | p.(Gly2270fs) | Deletion | Frameshift | BRCA2 only |
| 39 | 21 | c.8732del | 0.097 | 80 | p.(Ala2911Glufs*16) | Deletion | Frameshift | BRCA1 only |
| 40 | 11 | c.3339del | 0.819 | 80 | p.(Glu1113Aspfs*6) | Deletion | Frameshift | BRCA2 only |
| 41 | 8 | c.632-1G>A | 0.129 | 80 | p.? | Substitution | Splicing | BRCA1 only |
| 42 | 11 | c.6267_6269delinsC | 0.848 | 40 | p.(His2090fs) | Indel | Frameshift | BRCA1 and BRCA2 |
| 43 | 11 | c.4631del | 0.869 | 80 | p.(Asn1544fs) | Deletion | Frameshift | BRCA2 only |
| 44 | 11 | c.3545_3546delTT | 0.813 | 40 | p.(Phe1182fs) | Deletion | Frameshift | None |
| 45 | 24 | c.9154C>T | 0.341 | 80 | p.(Arg3052Trp) | Substitution | Missense | BRCA1 and BRCA2 |
| 46 | 10 | c.1859_1865del | 0.645 | 90 | p.(Phe620*) | Deletion | Frameshift | BRCA2 only |
| 47 | 11 | c.5351dup | 0.293 | 80 | p.(Asn1784Lysfs*3) | Duplication | Frameshift | BRCA2 only |
| 48 | 11 | c.3187C>T | 0.057 | 20 | p.(Gln1063*) | Substitution | Stop codon | None |
LOH, loss of heterozygosity