For the first time, we identified CHEK2 IVS2+1G>A mutation, one out of four different CHEK2 alterations in two Iranian BC patients (2%). Also, our results showed that CHEK2 1100elC, del5395bp, and I157T mutations are not associated with genetic susceptibility for BC among Iranian ...
cancer.SothetestofCHEK2genemutationsmaybehascertainindicationroleinthetreatmentofbreastcancer.However,theroleofCHEK2genemutationsinChinesepopulationstillneedsfurtherresearch.【Keywords】 Gene;Mutation;Breastneoplasms;CHEK2 细胞周期检查点激酶2(cell cyclecheckpointkinase2,CHEK2)是继BRCA1、BRCA2后发现的另一重要的...
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 ...
checkpoint kinase 2, germline mutation, neurofibromatosis, single nucleotide variationsRationale:Neurofibromatosis, including type 1 and type 2, is inherited dominant disease that causes serious consequences. The genetic mechanism of these diseases has been described, but germline mutation of checkpoint 2 ...
A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet. 2002;71(2):432-438. doi:10.1086/341943PubMedGoogle ScholarCrossref 15. Meijers-Heijboer H, Wijnen J, Vasen H, et al. The CHEK2 1100delC mutation identifies families...
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
This mutation leads to a protein truncation and is significantly associated with genetic susceptibility to breast cancer. Research on CHEK2 in HCC is limited, with only a study indicating high expression of CHEK2 in HCC tissues [15]. However, the mechanisms by which CHEK2 affects the prognosis...
The BC incidence was modeled via the explicit effects of truncating variants in BRCA1/2, PALB2, CHEK2, and ATM and other unobserved genetic effects using segregation analysis methods. Results: The predicted average BC risk by age 80 for an ATM mutation carrier is 28%, 30% for CHEK2, 50...