BackgroundCancer predisposing genes can be categorized by the risk of developing aparticular type of cancer if there is a pathogenic mutation identified in one of these genes. The risk of breast cancer, defined in terms of disease incidence, is relative to the general popul...
prognosisofbreastcancer.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...
(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 ...
Germline CHEK2 mutations are associated with breast cancer in different populations. For example, heterozygosity for the well-studied c.1100delC mutation, present in 1.4% of the Finnish population and in 0.2% of the Polish population, confers a relative risk for developing breast tumors of about...
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...
Objective To investigate the prevalence of CHEK2 c.1100delC mutation among non-BRCA1/BRCA2 familial/early-onset breast cancer patients in Shanghai. Methods One hundred and fourteen non-BRCA1/BRCA2 hereditary breast cancer patients were analyzed, among whom 76 cases had at least one first-degree...
The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype Because of genetic heterogeneity, the identification of breast cancer鈥搒usceptibility genes has proven to be exceedingly difficult. Here, we define a new ... H Meijers-Heijboer,M Wasielewski,...
Analysis of CHEK2 FHA domain in Czech patients with sporadic breast cancer revealed distinct rare genetic alterations. Breast Cancer Res Treat 2008;112:159e64.Kleibl Z, Havranek O, Novotny J, Kleiblova P, Soucek P, Pohlreich P. Analysis of CHEK2 FHA domain in Czech patients with sporadic...
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...
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers Article Open access 17 February 2021 Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes Article...