Table 1.
Identified HBOC-associated genetic variants.
| Gene | LP/KP variant | rsID | cDNA positiona | Protein position | GS/ESb | LRPc | AC_ESTd |
|---|---|---|---|---|---|---|---|
| BRCA1 | KP | rs80356898 | c.1687C>T | p.(Gln563*) | 1 | 0 | 1 |
| BRCA1 | KP | rs28897672 | c.181T>G | p.(Cys61Gly) | 1 | 0 | 1 |
| BRCA1 | KP | rs80357282 | c.1840A>T | p.(Lys614*) | 1 | 0 | 1 |
| BRCA1 | LP | Novel | c.2178delT | p.(Leu727Glufs*9) | 1 | 0 | 1 |
| BRCA1 | KP | rs80357711 | c.4035delA | p.(Glu1346Lysfs*20) | 8 | 8 | 16 |
| BRCA1 | KP | rs80357508 | c.4065_4068delTCAA | p.(Asn1355Lysfs*10) | 1 | 0 | 1 |
| BRCA1 | KP | rs80357305 | c.4258C>T | p.(Gln1420*) | 1 | 0 | 1 |
| BRCA1 | KP | rs80356860 | c.5117G>A | p.(Gly1706Glu) | 1 | 0 | 1 |
| BRCA1 | KP | rs80357906 | c.5266dupC | p.(Gln1756Profs*74) | 6 | 5 | 11 |
| BRCA1 | LP | rs483353102 | c.5534_5539delinsCCAGTGCCAGGACAGCAGG | p.(Tyr1845Serfs*39) | 1 | 0 | 1 |
| BRCA2 | KP | rs80358622 | c.37G>T | p.(Glu13*) | 1 | 0 | 1 |
| BRCA2 | KP | rs397515636 | c.3975_3978dupTGCT | p.(Ala1327Cysfs*4) | 1 | 0 | 1 |
| BRCA2 | KP | rs886040543 | c.469_470insT | p.(Lys157Ilefs*26) | 1 | 0 | 1 |
| BRCA2 | KP | rs80359584 | c.6405_6409delCTTAA | p.(Asn2135Lysfs*3) | 1 | 0 | 1 |
| BRCA2 | KP | rs80359112 | c.8572C>T | p.(Gln2858*) | 3 | 3 | 6 |
| BRCA2 | KP | rs1555288494 | c.9097_9098insT | p.(Thr3033Ilefs*11) | 2 | 0 | 2 |
| BRCA2 | KP | rs876661242 | c.9381G>A | p.(Trp3127*) | 1 | 0 | 1 |
HBOC hereditary breast and ovarian cancer, LP likely pathogenic, KP known pathogenic, GS genome sequencing, ES exome sequencing, LRP long-range phasing.
aProvided for BRCA1 ENST00000357654 (NM_007294.3) and BRCA2 ENST00000544455.1 (NM_000059.3).
bn = 4594 individuals.
cn = 13,085 individuals.
dHigh-risk variant carrier numbers in the Estonian Biobank subset (n = 17,679).