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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