Table 1 PRS associations with breast and ovarian cancer risks for BRCA1 and BRCA2 pathogenic variant carriers using the CIMBA retrospective cohort data.

From: Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

  

BRCA1 carriers

BRCA2 carriers

 

No FHa adjustment

FH adjusted

 

No FH adjustment

FH adjusted

Outcome

PRS

Unaffected/ affected

HR (95% CI)

P

HR (95% CI)

P

Unaffected/ affected

HR (95% CI)

P

HR (95% CI)

P

Breast cancer

BC

9462/ 9473

1.20 (1.17–1.23)

1.15×10−39

1.20 (1.17–1.23)

9.54×10−40

6007/ 6332

1.31 (1.27–1.36)

7.11×10−50

1.31 (1.26–1.36)

6.54×10−48

ER-

 

1.29 (1.25–1.33)

3.03×10−72

1.29 (1.25–1.33)

1.02×10−71

1.23 (1.19–1.28)

4.06×10−29

1.23 (1.18–1.27)

6.72×10−28

ER+

 

1.17 (1.14–1.20)

6.93×10−29

1.17 (1.14–1.20)

5.50×10−29

1.31 (1.26–1.36)

6.12×10−49

1.30 (1.26–1.35)

5.10×10−47

ER-negative breast cancer

BC

10,138/ 3263

1.09 (1.05–1.13)

3.69×10−6

1.09 (1.05–1.13)

4.44×10−6

8049/ 703

1.20 (1.11–1.30)

4.90×10−6

1.19 (1.10–1.29)

1.91×10−5

ER-

 

1.23 (1.18–1.28)

2.39×10−27

1.23 (1.18–1.27)

1.08×10−26

1.31 (1.21–1.43)

1.15×10−10

1.29 (1.19–1.41)

9.98×10−10

ER+

 

1.06 (1.02–1.10)

4.58×10−3

1.06 (1.02–1.10)

4.93×10−3

1.17 (1.08–1.26)

1.36×10−4

1.15 (1.07–1.25)

3.91×10−4

ER-positive breast cancer

BC

12,376/ 1025

1.44 (1.35–1.53)

3.88×10−28

1.44 (1.35–1.54)

1.25×10−27

6440/ 2312

1.37 (1.31–1.44)

2.95×10−40

1.36 (1.30–1.43)

6.28×10−38

ER-

 

1.29 (1.21–1.38)

2.94×10−15

1.29 (1.21–1.37)

9.25×10−15

1.22 (1.16–1.28)

1.93×10−15

1.21 (1.15–1.27)

1.54×10−14

ER+

 

1.44 (1.35–1.54)

3.94×10−28

1.45 (1.35–1.54)

1.12×10−27

1.38 (1.32–1.45)

1.88×10−42

1.37 (1.31–1.44)

5.99×10−40

Ovarian cancer

EOC

16,867/ 2068

1.31 (1.24–1.39)

1.49×10−21

1.31 (1.24–1.39)

2.36×10−21

11,621/ 718

1.43 (1.29–1.59)

1.81×10−11

1.42 (1.28–1.58)

3.40×10−11

HGS

 

1.32 (1.25–1.40)

3.01×10−22

1.32 (1.25–1.40)

5.18×10−22

1.44 (1.30–1.60)

4.34×10−12

1.43 (1.29–1.59)

7.54×10−12

  1. BC breast cancer, CI confidence interval, CIMBA Consortium of Investigators of Modifiers of BRCA1/2, ER- estrogen receptor negative, ER+ estrogen receptor positive, EOC epithelial ovarian cancer, FH family history, HGS high-grade serous, HR hazard ratio, PRSpolygenic risk score.
  2. Rows in bold represent the best performing PRS for each particular outcome.
  3. aFamily history in first- and second-degree relatives: coded as no family history, or one relative, or two or more relatives diagnosed with the disease.
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