Penetrance Information for CHEK2


The CHEK2 gene was identified as a cancer susceptibility gene on chromosome 22 in 1999 (Bell 1999). Deleterious germline mutations in CHEK2 are associated with an increased risk of breast cancer (Weischer 2012, Weischer 2007, Laitman 2007, Klipivaara 2004). CHEK2 mutations have also been associated with an increased risk of colon, thyroid, prostate, and kidney cancer (Cybulski 2004, Hale 2014, Xiang 2011, Thompson 2006).

Affected Phenotypes Included in Penetrance Model

Breast Cancer (male and female)

Colorectal Cancer

Note: Cancers other than breast cancer and colorectal cancer, such as thyroid cancer, prostate cancer, and kidney cancer are not included in this model.

Coding the Pedigree

Code affected individuals in column 5 of the Excel or plain text file used to build your pedigree.

  • Code "2" (affected) for individuals with breast cancer or colorectal cancer.
  • Code "1" (unaffected) for individuals who have not had breast cancer or colorectal cancer. Individuals who have only had prostate cancer, thyroid cancer, and/or kidney cancer should be coded as "1."
  • Code "0" for individuals with uncertain or unknown affected status.

More information on formatting pedigrees can be found here.

Penetrance classes for CHEK2

Penetrance is gender-specific.

Female Male
Age Range Homozygous Normal Heterozygous Homozygous Normal Heterozygous
[0,20) 7.0e-07 1.2e-05 9.9e-05 0.000178
[20,30) 5.2e-05 0.00093 0.0004457 0.0007991
[30,40) 0.00389 0.00281 0.0019968 0.0035803
[40,50) 0.01305 0.02062 0.005068 0.009086
[50,60) 0.03822 0.05965 0.0145085 0.0260137
[60,70) 0.07997 0.1245 0.03386 0.06071
[70,∞) 0.11808 0.18402 0.05771 0.10348


  • Bell DW, et al. Heterozygous germline hCHK2 mutations in Li-Fraumeni syndrome. Science. 286:2528. PMID: 10617473
  • Weischer M, et al. CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer specific death, and increased risk of a second breast cancer. J Clin Oncol. 2012, 30:4308. PMID: 23109706
  • Weischer M, et al. Increased risk of breast cancer associated with CHEK2*1100delC. J Clin Oncol. 2007, 25:57. PMID: 16880452
  • Laitman Y, et al. Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer. Isr Med Assoc J. 2007, 9:791. PMID: 18085035
  • Klipivaara O, et al. CHEK2 variant I157T may be associated with increased breast cancer risk. Intl J Cancer. 2004, 111:543. PMID: 15239132
  • Cybulski C, et al. CHEK2 is a multiorgan cancer susceptibility gene. Am J Hum Genet. 2004, 75:1131. PMID: 15492928
  • Hale V, et al. CHEK2*1100delC mutation and risk of prostate cancer. Prostate Cancer. 2014, 2014:294575. PMID: 25431674
  • Xiang HP, et al. Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility. Eur J Cancer. 2011, 47:2546. PMID: 21807500
  • Thompson D, et al. A multicenter study of cancer incidence in CHEK2 1100delC mutation carriers. Cancer Epidemiol Biomarkers Prev. 2006, 15:2542. PMID: 17164383