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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