Table 2 Associations Between Pathogenic Variants in DNA Mismatch Repair Genes and the Risk of Eight LS-related Cancers and Controls

From: Pan-cancer prevalence, risk, and clinical and demographic characteristics of Lynch Syndrome-associated variants in BioBank Japan

Disease

No. of samples

MLH1

MSH2

MSH6

PMS2

No. of carrier (%)

P-valuea

OR (95% CI)a,b

No. of carrier (%)

P-valuea

OR (95% CI)a,b

No. of carrier (%)

P-valuea

OR (95% CI)a,b

No. of carrier (%)

P-valuea

OR (95% CI)a,b

LS-related Cancer

 Biliary tract

1030

1 (0.10)

6.87 × 10-3

47.56 (2.89-782.08)

2 (0.19)

4.28 × 10-3

9.46 (2.02-44.20)

0 (0)

0.952

NA

1 (0.10)

0.228

3.56 (0.45-27.96)

 Brain

201

1 (0.50)

1.55 × 10-4

216.60 (13.35-3515.60)

0 (0)

0.975

NA

0 (0)

0.972

NA

0 (0)

0.974

NA

 Colorectal

16,470

41 (0.25)

2.93 × 10-6

111.67 (15.47-806.07)

53 (0.32)

1.52 × 10-14

16.17 (7.95-32.87)

61 (0.37)

8.05 × 10-14

6.28 (3.88-10.18)

15 (0.09)

1.24 × 10-3

3.77 (1.68-8.42)

 Endometrial

2286

16 (0.70)

4.60 × 10-6

116.98 (15.26-896.86)

38 (1.66)

8.65 × 10-17

53.60 (20.99-136.92)

59 (2.58)

3.49 × 10-17

148.21 (46.35-473.89)

2 (0.09)

0.036

8.26 (1.14-59.56)

 Gastric

12907

10 (0.08)

4.29 × 10-4

40.86 (5.18-322.12)

16 (0.12)

3.70 × 10-5

5.80 (2.52-13.36)

21 (0.16)

7.95 × 10-3

2.25 (1.24-4.10)

8 (0.06)

0.118

2.13 (0.83-5.49)

 Ovarian

1715

2 (0.12)

0.021

17.31 (1.53-195.74)

5 (0.29)

2.41 × 10-3

7.11 (2.00-25.27)

10 (0.58)

3.81 × 10-7

29.49 (7.99-108.84)

0 (0)

0.948

NA

 Pancreatic

1137

0 (0)

0.953

NA

1 (0.09)

0.19

4.00 (0.5-31.93)

1 (0.09)

0.799

1.30 (0.17-9.65)

0 (0)

0.952

NA

 Ureteral

56

0 (0)

0.992

NA

1 (1.79)

1.90 × 10−5

101.91 (12.24-848.33)

1 (1.79)

1.40 × 10−3

27.79 (3.61–213.79)

0 (0)

0.984

NA

Control

 Both

38,297

1 (0)

-

-

9 (0.02)

-

-

23 (0.06)

-

-

10 (0.03)

-

-

 Male

21,508

0 (0)

-

-

4 (0.02)

-

-

20 (0.09)

-

-

8 (0.04)

-

-

 Female

16,789

1 (0.01)

-

-

5 (0.03)

-

-

3 (0.02)

-

-

2 (0.01)

-

-

  1. NA not applicable, OR odds ratio, CI confidence intervals.
  2. aCancers showing Bonferroni corrected statistical significance (P < 0.05/92 = 5.43 × 10−4) with pathogenic variants are underscored.
  3. Cancers with P-value < 0.05 are bolded.
  4. bA logistic regression analysis (two-sided) using a dominant model was used, with age at registration, area, and sex included as covariates.
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