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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%
Gender
 Man  11.5   
 Woman1718.16498.512100 
Age at diagnosis (median)24–57 (34)22–72 (37)31–47 (36.5) 
Deaths15.91116.9216.60.0927
Survival in years (median)8 3 8  
Familial history       
 Present1482.352801083.30.294
 Absent317.71116.9216.7
 NI  23.1  
Tumor site
 Breast171005787.7121000.6034
 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
 Luminal423.52030.8541.70.4425
 Luminal HER211.81116.9325
 HER2211.8710.818.3
 TN952.9132018.3
 PR  11.5  
 NI  1320216.7
Tumor grade
 115.9710.818.30.03686
 2317.62944.6541.7
 31164.71116.9433.3
 NI211.81827.7216.7
Lymph node metastasis
 Present741.23147.7758.30.1984
 Absent847.11624.6325
 NI211.81827.7216.7
Distant metastasis
 M015.93858.5758.30.1964
 M11588.21421.5325
 NI15.91320216.7
  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