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. 2022 Sep 22;8(11):1598–1606. doi: 10.1001/jamaoncol.2022.4071

Table. Cohort Characteristics and Cancer Associations Stratified by Wild-type vs Monoallelic Pathogenic Variants.

Characteristic No. (%) CHEK2 monoallelic PV vs WT
WT CHEK2 monoallelic PVa OR (95% CI) P value
Sexb
Female 30 429 (92.1) 1995 (92.0) 0.99 (0.85-1.17) .93
Male 2605 (7.9) 172 (7.9)
Age, median (IQR), y
At genetic testing 53 (44-63) 53 (43-62) NA .005
At first breast cancer 50 (43-59) 47 (41-56) NA <.001
At first cancer 49 (42-58) 47 (40-56) NA <.001
Race and ethnicity, ancestry
African American/Black 1815 (5.5) 37 (1.7) 0.26 (0.18-0.36) <.001
Ashkenazi Jewish 2247 (6.8) 92 (4.2) 0.53 (0.42-0.65) <.001
Asian 1071 (3.2) 20 (0.9) 0.24 (0.15-0.37) <.001
Hispanic 1582 (4.8) 66 (3.0) 0.54 (0.41-0.69) <.001
White 21 907 (66.3) 1707 (78.7) 0.72 (0.62-0.82) <.001
Other 4409 (13.4) 246 (11.4) 1.43 (1.29-1.58) <.001
Any cancer
Yes 23 065 (69.8) 1664 (76.8) NA NA
No 9969 (30.2) 504 (23.3) NA NA
Primary cancers, No.
0 9969 (30.2) 504 (23.3) NA <.001
1 18 498 (56.0) 1348 (62.2) NA
>1 4567 (13.8) 316 (14.6) NA
Breast cancer
Yes 16 029 (52.7) 1339 (67.1) 1.83 (1.66-2.02) <.001
No 13 584 (44.6) 620 (31.1)
Bilateral breast cancer
Yes 2228 (7.3) 273 (13.7) 1.99 (1.74-2.28) <.001
No 27 345 (89.9) 1683 (84.4)
First breast cancer ER/PR positivec
Yes 8355 (78.0) 837 (92.8) 3.64 (2.81-4.78) <.001
No 2362 (22.0) 65 (7.2)
First breast cancer ERBB2 positive
Yes 1492 (19.0) 168 (25.9) 1.49 (1.23-1.79) <.001
No 6362 (81.0) 482 (74.2)
Colorectal cancer
Yes 2575 (7.8) 109 (5.0) 0.62 (0.51-0.76) <.001
No 29 550 (89.5) 2015 (92.9)
Kidney cancer
Yes 214 (0.7) 36 (1.7) 2.57 (1.75-3.68) <.001
No 31 896 (96.6) 2088 (96.3)
Melanoma
Yes 1259 (3.8) 60 (2.8) 0.71 (0.54-0.93) .01d
No 30 854 (93.4) 2064 (95.2)
Pancreatic cancer
Yes 597 (1.8) 20 (0.9) 0.5 (0.3-0.78) <.001
No 31 517 (95.4) 2104 (97.1)
Thyroid cancer
Yes 696 (2.1) 74 (3.4) 1.63 (1.26-2.08) <.001
No 31 416 (95.1) 2050 (94.6)

Abbreviations: ER, estrogen receptor; ERBB2, formerly HER2 (human epidermal growth factor receptor 2); NA, not applicable; PR, progesterone receptor; PV, pathogenic or likely pathogenic variant; WT, wild type.

a

Excluding the lower risk CHEK2 variants: p.I157T, p.S428F, and p.T476M.

b

Sex was not available for 1 participant.

c

ER/PR positive breast cancer included tumors that were estrogen receptor positive and/or progesterone receptor positive.

d

After Bonferroni correction, this P value was not significant.