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Table 1 Clinical characteristics of the study participants

From: Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families

  70 patients
Age at diagnosis, mean ± SD (range) 46 ± 11 years (26–79)
Relatives with breast cancer, mean ± SD (range) 4.1 ± 1.5 (1–9)
Histology
 - Ductal carcinoma 84%
 - Medullary carcinoma or medullary-like 4%
 - Other invasive carcinomas 8%
 - Ductal in situ carcinoma 4%
Grade
 - Grade 1 13%
 - Grade 2 55%
 - Grade 3 27%
 - Missing 5%
Size, median (range) 17 mm (2–115)
Ki67, median (range) 20% (5–80)
Estrogen receptor + 75%
Molecular classification
 - Luminal (A - B - ERBB2+) 52% (15% - 34% - 16%)
 - ER− ERBB2+ 3%
 - Triple-negative 13%
 - ERBB2 status missing 19%
Positive lymph nodes 34%
2nd breast cancer (of which contralateral) 34% (81%)
Breast cancer lifetime residual risk, mean ± SD (range) 15 ± 7% (2–30)26 NA
BRCA mutation carrier pre-test probability, median (range) 13% (1–91)
  1. Breast cancer lifetime residual risk and BRCA mutation carrier pre-test probability as determined by BOADICEA [14]. Breast cancer lifetime residual risk cannot be assessed for patients having already presented bilateral breast cancer and ovarian cancer or > 80 years old
  2. SD standard deviation