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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