Table 2 PALB2 genetic variants in familial breast and/or ovarian cancer and in non-familial breast cancer patients identified by NGS and TaqMan genotyping
From: PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland
| Â | NGS | Taqman genotyping | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
Localization | PALB2 cDNA change | PALB2 protein change | rsID | Familial cancer (n = 268) | Non-familial cancer (n = 192) | All (n = 460) | Familial cancer (n = 403) | Non-familial cancer (n = 404) | All (n = 807) | Healthy controls (n = 1690) |
Exon 3 | c.172_175delTTGT | p.Gln60Argfs | 180177143 | 3 (1.1%) | 1 (0.5%) | 4 (0.9%) | 1 (0.2%) | 3 (0.7%) | 4 (0.5%) | 4 (0.2%) |
Exon 4 | c.347insT | p.Leu116fs | novel | 1 (0.4%) | 0 | 1 (0.2%) | 0 | 0 | 0 | 0 |
c.509_510delGA | p.Arg170Ilefs | 515726123 | 2 (0.7%) | 0 | 2 (0.4%) | 4 (1.0%) | 0 | 4 (0.5%) | 0 | |
c.1010T > C | p.Leu337Ser | 45494092 | 8 (3.0%) | 6 (3.1%) | 14 (3.0%) | nt | nt | nt | nt | |
c.1676A > G | p.Gln559Arg | 152451 | 60 (22.4%) | 39 (20.3%) | 94 (20.4%) | 101 (25%) | 101 (25%) | 202 (0.25%) | 350 (21.3%) | |
c.1572A > G | p.Ser524Ser | 45472400 | 1 (0.4%) | 0 | 1 (0.2%) | nt | nt | nt | nt | |
Exon 5 | c.2014G > C | p.Glu672Gln | 45532440 | 16 (6.0%) | 7 (3.6%) | 22 (4.8%) | 27 (6.7%) | 32 (7.9%) | 59 (7.3%) | 108 (6.5%) |
Exon 7 | c.2590C > T | p.Pro854Ser | 45568339 | 5 (1.9%) | 1 (0.5%) | 6 (1.3%) | nt | nt | nt | nt |
Exon 8 | c.2794G > A | p.Val932Met | 45624036 | 6 (2.2%) | 1 (0.5%) | 2 (0.4%) | nt | nt | nt | nt |
c.2816T > G | p.Leu939Trp | 4548192 | 1 (0.4%) | 1 (0.5%) | 2 (0.4%) | 4 (1.0%) | 2 (0.5%) | 6 (0.7%) | 3 (0.18%) | |
Exon 9 | c.2869A > G | p.Lys957Gln | 515726103 | 0 | 1 (0.5%) | 1 (0.2%) | nt | nt | nt | nt |
c.2993G > A | p.Gly998Glu | 45551636 | 8 (3.0%) | 7 (3.6%) | 15 (3.3%) | 21 (5.2%) | 19 (4.7%) | 40 (5.0%) | 73 (4.5%) | |
Exon 12 | c.3300T > G | p.Thr1100Thr | 45516100 | 15 (5.6%) | 7 (3.6%) | 22 (4.8%) | 27 (6.7%) | 32 (7.9%) | 59 (7.3%) | 108 (6.6%) |