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Table 1 Distribution proportion of 3 groups of BRCA1 variants carriers clinical characteristics

From: Prevalence and reclassification of BRCA1 and BRCA2 variants in a large, unselected Chinese Han breast cancer cohort

Variables Re-Pathogenic VUS P1-value Re-Benign P2-value
No. of subjects 38 101   58  
Age at entry 46.47 47.96   49.01  
Age at diagnosis 44.76 46.27   47.22  
Early onset breast cancer 36.84% (14/38) 26.73% (27/101) 0.516 20.69% (12/58) 0.630
Location of cancer
(both sides/one side)
0 (0/23) 1.47% (1/68) 1 2.38% (1/42) 1
Luminal A breast cancer 0 (0/28) 8.57% (6/70) 0.290 13.51% (5/37) 0.699
Luminal B breast cancer 42.86% (12/28) 50% (35/70) 0.853 54.05% (20/37) 0.959
Triple negative breast cancer 50% (14/28) 34.29% (24/70) 0.465 24.32% (9/37) 0.569
HER2-positive breast cancer 7.14% (2/28) 7.14% (5/70) 1 8.11% (3/37) 1
Family history of breast cancer 15.79% (6/38) 8.91% (9/101) 0.465 5.17% (3/58) 0.626
Family history of other cancers 18.42% (7/38) 15.84% (16/101) 0.956 15.52% (9/58) 1
  1. VUS: Detected in our study and located in 13 exons (2–5 and 15–23) of the BRCA1 genes under the ClinVar database and ACMG guidelines
  2. Re-Pathogenic: Above-mentioned VUS, re-grouped to pathogenic variants by SGE
  3. Re-benign: Above-mentioned VUS, re-grouped to benign variants by SGE
  4. Early onset breast cancer: Breast cancer was determined by an age ≤ 40 years at diagnosis