Patel N, Lizaola-Mayo B, Borad MJ, Ahn D, Sonbol MB, Jones J, Leighton JA, Gurudu S, Singh H, Klint M, Kunze KL, Golafshar MA, Esplin ED, Nussbaum RL, Stewart AK, Bekaii-Saab TS, Jewel Samadder N. Germline Cancer Susceptibility Gene Testing in Unselected Patients With Colorectal...
Colorectal cancer is the third leading cause of cancer death with an estimated 430,000 death per year worldwide. This cancer is a common disease that about 95% is sporadic. Accumulation of somatic mutations in a cell is the basis of sporadic colon cancer. Mutations of different classes of ...
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. ...
discovered that Ainsliadimer A binds to cysteine 173 of PRDX1 and methionine 172 of PRDX2, thereby triggering the mitochondrial apoptotic pathway and ultimately inhibiting colon cancer development [36]. In addition, we found that in HCC cell lines, knocking out CHEK2 can change the potential ...
survival after dna damage. mutations in c have been linked with li-fraumeni syndrome, a highly penetrant familial cancer phenotype usually associated with inherited mutations in tp53. also, mutations in this protein are thought to confer a predisposition to sarcomas, breast cancer, and brain tumors...
The protein encoded by the CHEK2 gene is involved in cellular repair of DNA damage. 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 ...
CHEK2 is a multiorgan cancer susceptibility gene. Am J Hum Genet 2004; 75: 1131–1135. 58 Abud J, Prolla JC, Rossi C, Palmero EI, Vargas FR, Nunes LM et al. CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families. Arq ...
Other associations have been more variable, but CHEK2 mutations have been associated with increased risks of colon, prostate, and male breast cancer. Lung and laryngeal cancer are inversely associated in some studies, an intriguing and counterintuitive finding that awaits explanation.Robson M...
CHEK2 geneCHK2 genecolon cancergermline mutationshereditarysusceptibilityGermline mutations in cell cycle checkpoint kinase 2 (CHEK2) have been associated with a range of cancer types, in particular of the breast and prostate. Protein-truncating mutations in CHEK2 have been reported to confer higher ...
Studies on our population provided evidence that CHEK2 truncating mutations are associated with increased risk of cancer in the thyroid, breast and prostate. The I157T has been found to be associated with increased risk of breast, prostate, colon, kidney and thyroid cancer. The variability in ...