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Table 2 Spectrum of frame-shift and nonsense BRCA2 germline mutations detected in Czech patients.

From: Spectrum and characterisation of BRCA1 and BRCA2deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer

BRCA2 exon DNA level BIC traditional nomenclature DNA level Systematic nomencl. Protein level No. of families
3 c.534dupA c.306dupA p.Leu103IlefsX10 1
5 c.690_691delAA c.462_463del2 p.Asp156X 1
9 c.983_986del4 c.755_758del4 p.Asp252ValfsX24 1
10 c.1617_1618delAG c.1389_1390del2 p.Val464GlyfsX3 2
10 c.2024_2028del5 c.1796_1800del5 p.Phe559X 1
10 c.2041dupA (2041–2042insA) c.1813dupA p.Ile605AsnfsX11 2
11A c.3036_3039del4 c.2808_2811del4 p.Ala938ProfsX21 5
11A c.3304A>T c.3076A>T p.Lys1026X 1
11A c.3337C>T c.3109C>T p.Gln1037X 1
11B c.3972_3975del4 c.3744_3747del4 p.Ser1248ArgfsX10 1
11B c.4075_4076delGT c.3847_3848del2 p.Val1283LysfsX2 2
11C c.5073_5074delCT c.4845_4846del2 p.Leu1616LysfsX2 1
11C c.5270_5271delGT c.5042_c.5043del2 p.Val1681GlufsX7 1
11D c.5441_5444del4 c.5213_5216del4 p.Thr1738IlefsX2 1
11D c.5869_5872del4 c.5641_5644del4 p.Lys1881GlnfsX27 1
11D c.5873C>A c.5645C>A p.Ser1882X 4
11D c.5950_5951delCT c.5722_5723del2 p.Leu1908ArgfsX2 1
11D c.5991dupT c.5763dupT p.Ala1922CysfsX2 1
11D c.6017delT c.5789delT p.Leu1930TyrfsX33 1
11E c.6633_6637del5 c.6405_6409del5 p.Asn2135LysfsX3 1
11E c.6677_6678delAA c.6449_6450del2 p.Lys2150SerfsX25 3
11E c.6696_6697delTC c.6468_6469del2 p.Gln2157IlefsX18 1
11E c.6866delC c.6638delC p.Ser2213X 2
11E c.6982dupT (6982–6983insT) c.6754dupT p.Ser2252PhefsX9 1
14 c.7379_7380delAA c.7151_7152del2 p.Gln2384ArgfsX7 1
15 c.7699C>T c.7471C>T p.Gln2491X 1
17 c.8141_8145del5 (8138_8142del5) c.7913_7917del5 p.Phe2638fsX 15
18 c.8270_8271delCA c.8042_8043del2 p.Thr2681CysfsX11 3
18 c.8397_8400dup4 (8400_8401ins4) c.8169_8172dup4 p.Trp2725MetfsX3 1
19 c.8591G>A c.8363G>A p.Trp2788X 1
20 c.8765_8766delAG c.8537_8538del2 p.Glu2846GlyfsX22 14
23 c.9325dupA c.9097dupA p.Thr3033AsnfsX11 1
25 c.9631delC c.9403delC p.Leu3135PhefsX28 4
25 c.9663_9664delGT c.9435_9436del2 p.Ser3147CysfsX2 1
25 c.9691_9695del5ins8 c.9463_9467del5ins8 p.Phe3155GlufsX9 1
  1. BRCA2 reference sequence GenBank: U43746. Mutations marked in bold had not been submitted to the BIC database from any other population prior to November 2007 [21].