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Table 1 Phenotypic and genotypic characterization of the HBOC cohort according to BRCA mutational status

From: Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population

VariableMutational statusp-value&
BRCA pathogenicaBRCA Benign and VUSbnon-BRCA
n = 17%n = 65%n = 12%
 Man  11.5   
Age at diagnosis (median)24–57 (34)22–72 (37)31–47 (36.5) 
Survival in years (median)8 3 8  
Familial history       
 NI  23.1  
Tumor site
 Ovary  69.3  
 Edometrium  11.5  
 Stomach  11.5  
Tumor distribution
 Unilateral or located1270.64873.81083.30.2376
 Bilateral (breast)529.469.318.3
 Multiple tumors  57.7  
 NI  69.318.3
Breast molecular subype
 Luminal HER211.81116.9325
 PR  11.5  
 NI  1320216.7
Tumor grade
Lymph node metastasis
Distant metastasis
  1. aVariants previously characterized as pathogenic (ClinVar). bPatients carrying benign or variants of unknown significance on BRCA1/BRCA2 genes. &The association between the genotypes and the clinical characteristics were calculated using the Pearson’s X2 test. HER2 When the HER2 protein is overexpressed; TN Triple-negative, PR Positive for progesterone receptors, NI Not-informed