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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

  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%)
  1. nt not tested