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Table 1 Pathogenic germline BRCA1 mutations in breast and ovarian cancer patients from the Prague area

From: High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area

Family no. Mutation description Method of detection No. of cancers in a family and age at onset
  Exon Traditional nomenclature Approved nomenclature Predicted effect   Breast cancer (bilateral) Mean age at diagnosis Other cancers (age at onset)
F-24 2 c.187_188delAG c.68_69delAG p.Glu23fsX39 Sequencing 1 35 Colon (54)
F-111 5 c.300T>G c.181T>G p.Cys61Gly Sequencing 3 42 Stomach (51)
F-126 5 c.300T>G c.181T>G p.Cys61Gly Sequencing 2 45 -
F-252 5 c.300T>G c.181T>G p.Cys61Gly Sequencing 1 29 -
F-43 11 c.1135delA c.1016delA p.Lys339fsX340 PTT 2 41 Colon (50), lung (64)
F-361 11 c.1246delA c.1127delA p.Asn376fsX393 PTT 1 37 Ovarian (52, 54, 55)
F-21 11 c.1806C>T c.1687C>T p.Gln563X PTT 1 (1) 46 Ovarian (43), melanoma (53)
F-397 11 c.1866A>Ta c.1747A>Ta p.Lys583Xa PTT - - Ovarian (39, 43)
F-249 11 c.2382G>T c.2263G>T p.Glu755X PTT 4 53 Ovarian (41, 54)
F-61 11 c.2530_2531delAG c.2411_2412delAG p.Gln804fsX808 PTT 3 49 -
F-80 11 c.3450C>T c.3331C>T p.Gln1111X PTT 2 52 -
F-305 11 c.3819_3823del5 c.3700_3704del5 p.Val1234fsX1241 PTT 1 38 Leukemia (67), lung (65)
F-337 11 c.3819_3823del5 c.3700_3704del5 p.Val1234fsX1241 PTT 3 44 -
F-347 11 c.3819_3823del5 c.3700_3704del5 p.Val1234fsX1241 PTT 2 42 -
F-390 11 c.3819_3823del5 c.3700_3704del5 p.Val1234fsX1241 PTT 1 42 Lung (56), kidney (65)
F-164 11 c.3875_3878delGTCT c.3756_3759delGTCT p.Leu1252fsX1262 PTT 2 (1) 42 Ovarian (40, 43), stomach (?)
F-245 12 c.4284_4285delAG c.4165_4166delAG p.Ser1389fsX HDA 2 38 Ovarian (44, 50), kidney (75)
F-15 20 c.5385dupC c.5266dupC p.Gln1756fsX1829 Sequencing 1 32 -
F-75 20 c.5385dupC c.5266dupC p.Gln1756fsX1829 Sequencing 1 44 Ovarian (?, ?)
F-152 20 c.5385dupC c.5266dupC p.Gln1756fsX1829 Sequencing 2 58 Ovarian (72)
F-185 20 c.5385dupC c.5266dupC p.Gln1756fsX1829 Sequencing 3 51 Colon (?)
F-187 20 c.5385dupC c.5266dupC p.Gln1756fsX1829 Sequencing 3 48 Ovarian (56)
F-194 20 c.5385dupC c.5266dupC p.Gln1756fsX1829 Sequencing 4 43 Ovarian (52)
F-201 20 c.5385dupC c.5266dupC p.Gln1756fsX1829 Sequencing 2 41 -
F-239 20 c.5385dupC c.5266dupC p.Gln1756fsX1829 Sequencing 3 46 Ovarian (41), stomach (?)
F-243 20 c.5385dupC c.5266dupC p.Gln1756fsX1829 Sequencing 3 (1) 42 -
F-261 20 c.5385dupC c.5266dupC p.Gln1756fsX1829 Sequencing 2 29 -
F-265 20 c.5385dupC c.5266dupC p.Gln1756fsX1829 Sequencing 3 (1) 52 Ovarian (?)
F-273 20 c.5385dupC c.5266dupC p.Gln1756fsX1829 Sequencing 3 36 Ovarian (42), colon (51, 56)
F-331 20 c.5385dupC c.5266dupC p.Gln1756fsX1829 Sequencing 1 (1) 31 Uterus (60), colon (64)
F-342 20 c.5385dupC c.5266dupC p.Gln1756fsX1829 Sequencing 2 50 Ovarian (41), colon (?)
F-368 20 c.5385dupC c.5266dupC p.Gln1756fsX1829 Sequencing 4 (2) 37 Ovarian (40), kidney 78)
F-370 20 c.5385dupC c.5266dupC p.Gln1756fsX1829 Sequencing 2 49 Ovarian (55)
F-385 20 c.5385dupC c.5266dupC p.Gln1756fsX1829 Sequencing 1 52 Ovarian (61), colon (83), melanoma (79)
F-387 20 c.5385dupC c.5266dupC p.Gln1756fsX1829 Sequencing 3 (1) 36 -
  1. Position in cDNA is according to GenBank accession number U14680. aNovel mutations. HAD, heteroduplex analysis; PTT, protein truncation test.