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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