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Table 2 Pathogenic germline BRCA2 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-263 11 c.3036_3039delACAA c.2808_2811delACAA p.Lys936fsX958 PTT 3 (1) 41 -
F-279 11 c.3303G>T; 3304A>T c.3075G>T; 3076A>T p.Lys1025Asn; p.Lys1026X PTT 1 50 Ovarian (47, 50)
F-348 11 c.4167delCa c.3939delCa p.Tyr1313fsX PTT - - Ovarian (46, 58), lung (?)
F-237 11 c.4203_4206dupTGCT c.3975_3978dupTGCT p.Ala1327fsX1331 PTT 2 38 Stomach (?)
F-298 11 c.5466dupT c.5238dupT pAsn1747fsX PTT 1 41 Ovarian (59)
F-304 11 c.5873C>A c.5645C>A p.Ser1882X PTT 3 61 Ovarian (49), colon (67)
F-49 11 c.5910C>G c.5682C>G p.Tyr1894X PTT 2 (1) 45 Lung (?)
F-67 11 c. 5991dupTa c.5763dupTa p.Ala1922fsX1923a PTT 1 48 Ovarian (49), esophagus (?)
F-327 11 c. 5991dupTa c.5763dupTa p.Ala1922fsX1923a PTT 1 32 -
  1. Position in cDNA is according to GenBank accession number U43746. aNovel mutations. PTT = protein truncation test.