A deletion variant in the CHEK2gene(del1100C)has been implicated as a low -penetrance risk factor for breastcancer.We sought to determine contr ibution of CHEK2mutations to the etiology of ovarian cancer(OvCa ).We used cases ascertained from the United States through Gy-necologic Oncology ...
Some bladder cancers can be the result of genetic predisposition or chromosomal abnormalities, but no clinical useful molecular marker exists to identify patients with higher risk ofrecurrence. We analyzed the recurrence rate in patients with three variants of tumor suppressor gene mutation, checkpoint ...
(chek)2 protein truncating mutation 1100delc has been associated with increased risk for breast or prostate cancer. multiple studies have found an elevated frequency of the 1100delc variant in specific stratifications of breast cancer patients with a family history of the disease, including brca1 ...
Mutation analysisThe CHEK2 gene mutations I157T (c.470T>C) and IVS2+1G>A affecting the forkhead-associated domain (FHA) have been shown to increase the risk of breast cancer development in several populations. We analyzed the CHEK2 gene segment coding for FHA domain in 673 unselected ...
The 1100delC CHEK2 allele has been associated with a 1.4–4.7 fold increased risk for breast cancer in women carrying this mutation. While the frequency of 1100delC was 1.1–1.4% in healthy Finnish controls, the frequency of this allele in a North Americ
Specifically, mutations in the CHEK2 gene can result in the loss or impairment of protein function, affecting DNA repair and cell cycle regulation mechanisms, thereby increasing the individual’s risk of developing cancer [13]. For instance, one of the common CHEK2 mutations associated with ...
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 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. ...
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 ...
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 ...