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Table 1 Spectrum of frame-shift, missense and nonsense BRCA1 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

BRCA1 exon DNA level BIC traditional nomenclature DNA level Systematic nomencl. Protein level No. of families
2 c.174C>T c.55C>T p.Gln19X 1
2 c.187_188delAG (185delAG) c.68_69del2 p.Glu23ValfsX17 7
2 c.190G>A c.71G>A p.Cys24Tyr 1
3 c.234T>C c.115T>C p.Cys39Arg 5
5 c.300T>G c.181T>G p.Cys61Gly 20
5 c.310G>A c.191G>A p.Cys64Tyr 1
11A c.962_965del4 c.843_846del4 p.Ser282TyrfsX15 1
11A c.1135dupA (1135insA) c.1016dupA p.Val340GlyfsX6 1
11A c.1159delT c.1040delT p.Leu347ArgfsX27 1
11A c.1187_1196del10 c.1068_1077del10 p.Gln356HisfsX15 1
11A c.1323delG c.1204delG p.Glu402SerfsX8 1
11A c.1522delA c.1403delA p.Lys468ArgfsX7 1
11A c.1629delC c.1510delC p.Arg504ValfsX28 1
11A c.1719C>T c.1600C>T p.Gln534X 3
11A c.1806C>T c.1687C>T p.Gln563X 6
11B c.2276dupA c.2157dupA p.Glu720ArgfsX6 2
11B c.2312_2315del4 c. 2193_2196del4 p.Glu732ArgfsX3 1
11B c.2382G>T c.2263G>T p.Glu755X 4
11B c.2530_2531delAG c.2411_2412del2 p.Gln804LeufsX5 3
11B c.2607_2616dup10 (2616_2617ins10) c.2488_2497dup10 p.Leu833X 4
11B c.2881delA c.2762delA p.Gln921ArgfsX79 2
11B c.3283delG c.3164delG p.Gly1055AlafsX4 1
11C c.3740_3745del6insAA c.3591_3626del6insAA p.Leu1209Ser25 1
11C c.3761_3762delGA c.3642_3643del2 p.Asn1215fsX3 2
11C c.3819_3823del5 c.3700_3704del5 p.Val1234GlnfsX8 29
11C c.3875_3878del4 c.3756_3759del4 p.Ser1253ArgfsX10 6
11C c.4171T>A c.4052T>A p.Leu1351X 1
12 c.4280_4281delTC c.4161_4162del2 p.Gln1388GlufsX2 1
12 c.4284_4285delAG c.4165_4166del2 p.Ser1389X 1
13 c.4458C>T c.4339C>T p.Gln1447X 1
20 c.5385dupC (5385insC; 5382insC) c.5266dupC p.Gln1756ProfsX74 75
22 c.5465G>A c.5346G>A p.Trp1782X 1
24 c.5629G>A c.5510G>A p.Trp1837X 1
24 c.5630G>A c.5511G>A p.Trp1837X 1
  1. BRCA1 reference sequence GenBank: U14680. Mutations marked in bold had not been submitted to the BIC database from any other population prior to November 2007 [21].