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Table 1 Molecular genetic testing in 290 Czech high-risk families

From: High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic

Phenotype of families tested for BRCA1/2 mutations* Number of families/patients BRCA1 mutation (%) BRCA2 mutation (%) Overall mutation (%) Phenotype and number of families tested for BRCA1 deletions* Number of BRCA1 deletions detected
HBOC+HOC 105 51 (48.6%) 9 (8.6%) 60 (57.2%) HBOC 36 4
      HOC 9 1
      Σ 45 5/45 (11.1%)
      5/56 ~8.93% of BRCA1 mutations
HBC 185 35 (18.9%) 23 (12.4%) 58 (31.3%) 0 × brca<50 29 -
      1 × brca<50 52 1
      2 × brca<50 28 1
      3 × brca<50 15 -
      4 × brca<50 3 3
      Σ 127 5/127 (3.9%)
      5/40 ~12.5% of BRCA1 mutations
      Overall 172 10/172 (5.8%)
      10/96 ~10.4% of BRCA1 mutations
Overall 290 86 (29.7%) 32 (11.0%) 118 (40.7%)   10/290 (3.4%)
  1. *See Materials and methods, Patients and criteria for testing. Only deleterious mutations are considered. HBOC – hereditary breast and ovarian cancer syndrome; HOC – hereditary ovarian cancer syndrome; HBC – hereditary breast cancer syndrome.