Table 3.
Pathogenic variants detected in no-BRCA genes of patients with bilateral breast cancers positively tested by multi-gene panel.
| Gene | Variant Type | HGVS Nomenclature | Protein Change | No. Patients | Allele Frequency (ExAC */GnomAD **) | Allele Frequency (Study Cohort) |
|---|---|---|---|---|---|---|
| CHEK2 | fs | c.1100del | p.Thr367fs | 5 (9.2%) | gnomAD 0.00204 ExAC 0.00182 |
0.018 |
| RAD51C | NS | c.224dup | p.Tyr75Ter | 1 (1.9%) | gnomAD 0.00001 | 0.0036 |
| ATM | NS | c.8818_8821dup | p.Ser2941Ter | 1 (1.9%) | / | 0.0036 |
| PALB2 | fs | c.758dup | p.Ser254fs | 2 (3.8%) | gnomAD 0.00002 ExAC 0.00003 |
0.0072 |
| PALB2 | NS | c.2566C > T | p.Gln856Ter | 2 (3.8%) | gnomAD 0.00000 ExAC 0.00001 |
0.0072 |
| PALB2 | fs | c.1050_1053del | p.Thr351fs | 2 (3.8%) | / | 0.0072 |
| PALB2 | NS | c.2257C > T | p.Arg753Ter | 2 (3.8%) | gnomAD 0.00002 ExAC 0.00003 |
0.0072 |
| MUTYH | M | c.1103G > A | p.Gly368Asp | 1 (1.9%) | gnomAD 0.00303 ExAC 0.00280 |
0.0036 |
| PTEN | M | c.284C > A | p.Pro95Gln | 1 (1.9%) | / | 0.0036 |
| ATM | M | c.8147T > C | p.Val2716Ala | 1 (1.9%) | gnomAD 0.00003 ExAC 0.00004 |
0.0036 |
| RAD51C | IVS | c.1026 + 5_1026 + 7del | / | 1 (1.9%) | / | 0.0036 |
| ATM | LGR | Exon 57–61del | / | 1 (1.9%) | / | 0.0036 |
Abbreviations: fs, frameshift; IVS, intronic variants; LGR, large genomic rearrangement; M, missense; NS, non-sense. *Dataset ExAC v1.0; ** Dataset GnomAD v2.1.1.