Table 2 The HRD+ rates of cases with germline non-BRCA1/2 HRR mutations in the present study and literature review

From: Homologous recombination deficiency among patients with germline or somatic non-BRCA1/2 homologous recombination repair gene variations

References and Cancer types

The present study

Kahn et al. 12

Torres-Esquius et al. 14

Lotan et al. 16

Mandelker et al. 17

Xie et al. 18

Lee et al. 19

Golan et al. 20

Total

BC, EC, OC, PAC

OC

BC, OC

PRC

PAC

PAC

BC

PAC

BC, EC, OC, PAC, PRC

ATM

0/2 (0%)

1/3 (33.3%)

 

0/26 (0%)

0/2 (0%)

0/1 (0%)

 

0/6 (0%)

1/40 (2.5%)

BLM

0/1 (0%)

       

0/1 (0%)

BRIP1

1/4 (25.0%)

0/2 (0%)

   

0/2 (0%)

  

1/8 (12.5%)

CHEK2

   

0/13 (0%)

1/1 (100%)

0/1 (0%)

 

0/2 (0%)

1/17 (5.9%)

FANCA

0/1 (0%)

1/1 (100%)

      

1/2 (50.0%)

FANCI

0/1 (0%)

       

0/1 (0%)

FANCL

1/1 (100%)

       

1/1 (100%)

MRE11

0/1 (0%)

       

0/1 (0%)

NBN

0/1 (0%)

0/1 (0%)

      

0/2 (0%)

PALB2

4/4 (100%)

1/1 (100%)

  

2/2 (100%)

 

14/15 (93.3%)

3/4 (75.0%)

24/26 (92.3%)

PTEN

0/1 (0%)

       

0/1 (0%)

RAD50

1/1 (100%)

       

1/1 (100%)

RAD51B

1/2 (50.0%)

0/2 (0%)

   

0/4 (0%)

  

1/8 (12.5%)

RAD51C

5/7 (71.4%)

 

11/18 (61.1%)

     

16/25 (64.0%)

RAD51D

4/6 (66.7%)

1/2 (50.0%)

7/10 (70.0%)

     

12/18 (66.7%)

RAD54B

1/1 (100%)

       

1/1 (100%)

RAD54L

     

0/2 (0%)

  

0/2 (0%)

Total

18/34 (52.9%)

4/12 (33.3%)

18/28 (64.3%)

0/39 (0%)

3/5 (60.0%)

0/10 (0%)

14/15 (93.3%)

3/12 (25.0%)

60/153 (39.2%)

  1. BC breast cancer, EC endometrial cancer, OC ovarian cancer, PAC pancreatic cancer, PRC prostate cancer.
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