Skip to main content

Table 2 Association between the clinicopathological features of suspected hereditary breast cancer and the pathogenic or likely pathogenic variants of non-BRCA cancer predisposition genes (n = 120 patients)

From: Variants of cancer susceptibility genes in Korean BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer

Clinicopathological features   High-penetrance mutations Moderate-penetrance mutations None or VUS  
   Number ofpatients % Number ofpatients % Number ofpatients % p-value
Breast cancer site
  Bilateral 2 18.2 0 0 9 81.8 0.106*
  Unilateral 3 2.8 4 3.7 102 93.5  
Breast cancer subtype (n = 117, excluding patients with unknown breast cancer subtypes)
  TNBC 0 0 1 4.5 21 95.5 >0.99*
  hormone + and/or HER2+ 4 4.2 3 3.2 88 92.6  
Concomitant diagnosis with ovarian cancer
  Yes 0 0 0 0 3 100 >0.99*
  No 5 4.3 4 3.4 108 92.3  
Age at first diagnosis of breast cancer
  < 35 years 4 21.1 0 0 15 78.9 0.003*
  ≥ 35 years 1 1.0 4 4.0 96 95.0  
Family history of young (< 50 years old at diagnosis) breast and/or ovarian cancer patients within 2nd degree family
  Yes 2 6.3 3 9.4 27 84.3 0.053*
  No 3 3.4 1 1.1 84 95.5  
  1. Abbreviations: HER2, human epidermal growth factor receptor 2; TNBC, triple negative breast cancer; VUS, variant of unknown significance. *Analyzed using Fisher’s exact test