We observed an increased risk of colorectal cancer in association with the missense I157T mutation (odds ratios (OR) = 1.5; 95% CI 1.2-2.0; P = 0.002) but not with truncating mutations (OR = 1.0; 95% CI 0.5-1.8; P = 0.9); however the difference in the two OR was not ...
[10] Ali M , Delozier C D , Chaudhary U .BRIP-1 germline mutation and its role in colon cancer: Presentation of two case reports and review of literature[J].BMC Medical Genetics, 2019, 20(1).DOI:10.1186/s12881-019-0812-0. [11] Uson PLS Jr, Riegert-Johnson D, Boardman L, Kisie...
CHEK2 mutation and risk of prostate cancer: a systematic review and meta-analysis. Int J Clin Exp Med. 2015;8(9):15708-15715.PubMedGoogle Scholar 20. Cybulski C, Górski B, Huzarski T, et al. CHEK2 is a multiorgan cancer susceptibility gene. Am J Hum Genet. ...
19 It must be noted that in women who also carry a pathogenic BRCA1/2 mutation the 1100delC allele does not seem to modify breast cancer risk.3,14,21 An association of the 1100delC allele with increased colon cancer and prostate cancer risk has been described, while an association with ...
The truncating mutation, CHEK2*1100delC, seems to increase the risk for breast cancer. We investigated whether the CHEK2*1100delC mutation carrier status increases the risk for asynchronous contralateral breast cancer (CBC) and whether it interacts with radiation therapy (RT) or chemotherapy in ...
The I157T has been found to be associated with increased risk of breast, prostate, colon, kidney and thyroid cancer. The variability in penetrance and cancer expression in mutation carriers probably can be explained by influence of other genetic or environmental factors. Our preliminary data ...
After adjusting for mutation type, the risk of breast cancer was much higher among relatives of probands with breast cancer than among relatives of patients with prostate or colon cancer (HR=3.6; 95% CI=2.1-6.2; P=0.0001). Similarly, the risk of prostate cancer was higher among relatives ...
ski [1] Mutations in the CHEK2 gene confer an approximately two-fold increase in the risk of cancer in many organs including the breast, colon, kidney, prostate and thyroid. In addition, we have recently identified a positive association of similar magnitude between a CHEK2 mutation and ...
Objectives: CHEK2 mutations are associated with increased risk of breast, colon, and prostate cancer but not ovarian cancer. Our study investigated if women with CHEK2 mutations underwent risk reducing salpingo-oophorectomies (RRSO), despite no known risk of ovarian cancer associated with CHEK2, ...
TP53 R249S mutation in hepatic organoids captures the predisposing cancer risk. Hepatology (2022). https://doi.org/10.1002/hep.32802. Wang C, Vegna S, Jin H, Benedict B, Lieftink C, Ramirez C, et al. Inducing and exploiting vulnerabilities for the treatment of liver cancer. Nature. ...