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Table 1 Classification and cohort characteristics

From: Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity

  Total sample, n (%) Mutation carriers, n (%) Mutation carriers per group, n (%)
Eeles’ LFL criteria 48/83 (58%) 6/10 (60%) 6/48 (13%)
Birch’s LFL criteria 12/83 (15%) 1/10 (10%) 1/12 (8%)
Original Chompret criteria 23/83 (28%) 3/10 (30%) 3/23 (13%)
Chompret 2008 version criteria 75/83 (90%) 10/10 (100%) 10/75 (13%)
Chompret 2009 version criteria 43/83 (52%) 6/10 (60%) 6/43 (14%)
Chompret 2015 version criteria 53/83 (64%) 5/10 (50%) 5/53 (9%)
Classic LFS criteria 1/83 (1%) 0/10 0/1
Early-onset BC (i.e., ≤ 34 years) 50/83 (60%) 7/10 (70%) 7/50 (14%)
Bilateral BC/two primary BCs 9/83 (11%) 2/10 (20%) 2/9 (22%)
Additional neoplasms besides BC 4/83 (5%) 0/10 0/4
Sarcoma in family or self 10/83 (12%) 0/10 0/10
Brain tumor in family or self 16/83 (20%) 2/10 (20%) 2/16 (13%)
  1. Abbreviations: BC Breast cancer, LFL Li-Fraumeni-like syndrome, LFS Li-Fraumeni syndrome
  2. See Additional file 2 regarding LFS/LFL criteria