Ask about this productRelated genes to: CHK2 antibody
- Gene:
- CHEK2 NIH gene
- Name:
- checkpoint kinase 2
- Previous symbol:
- RAD53
- Synonyms:
- CDS1, CHK2, HuCds1, PP1425, bA444G7
- Chromosome:
- 22q12.1
- Locus Type:
- gene with protein product
- Date approved:
- 2001-09-19
- Date modifiied:
- 2019-04-23
Related products to: CHK2 antibody
Related articles to: CHK2 antibody
- Pleomorphic lobular carcinoma in situ (PLCIS) and florid lobular carcinoma in situ (FLCIS) are uncommon entities with variable rates of upgrades. Germline pathogenic variant cancer predisposition genes (PVs) are associated with increased breast cancer risk and influences management recommendations. - Source: PubMed
Publication date: 2026/09/18
Ijaz KomalArun BanuWeber Diane MBevers Therese BartholomewYi MinHunt Kelly KMiddleton Lavinia P - This study aims to investigate the mutational spectrum of and genes in a cohort of breast cancer (BC) patients from southern Tunisia, and to evaluate their clinical and prognostic significance. Additionally, this study explores the contribution of other cancer predisposition genes and the prevalence of variants of uncertain significance (VUS). - Source: PubMed
Publication date: 2026/08/29
Ammous-Boukhris NihelAbdelmaksoud-Dammak RaniaBen Kridis WalaBen-Ayed-Guerfali DorraGuidara SouhirFeki AmeniKamoun HassenKhanfir AfefDaoud JamelLizard Gérard-HubertGargouri AliMokdad-Gargouri Raja - While pathogenic germline variants are known to increase cancer risk, there is currently insufficient evidence regarding the precise risk of developing malignant neoplasms associated with specific missense variants or variants of uncertain significance. As a result, no clear clinical guidelines exist regarding consultation, monitoring and specific treatment options for those patients. For the first time in Russia, clinical data and whole-genome sequencing (WGS) results were analyzed for 3150 patients with cancer and suspected hereditary cancer syndromes (HCS) and 5163 healthy individuals. This dataset formed the basis for assessing the role of germline variants in the development of different cancer types. The chromosomal coordinates and coding sequence coordinates are given in accordance with the GRCh38 (hg38) genome assembly and the NM_007194.4 transcript. Pathogenic (P) and likely pathogenic (LP) variants of significantly increased the risk of breast cancer (OR = 2.015 [95% CI: 1.27-3.21]; = 0.0031), but the association with colorectal cancer was not statistically significant (OR = 1.354 [95% CI: 0.42-4.42]; = 0.616). A moderate increase in cancer risk was identified for the c.1100del variant (OR = 2.263 [95% CI: 1.19-4.32]; = 0.0132) and for the common P/LP variants c.1100del, c.444+1G>A and c.433C>T (OR = 2.219 [95% CI: 1.40-3.51]; = 0.0007). Notably, our study confirmed that c.470T>C (p.Ile157Thr) is the most common variant in the patient group, identified in 3.8% of cases (120/3150), compared with 3.0% in the control group (155/5163). Although the association between the most common variant c.470T>C and cancer risk reached nominal statistical significance (OR = 1.279 [95% CI: 1.00-1.63]; = 0.0463), the effect size was minimal, suggesting that the contribution of this variant to hereditary cancer risk in the Russian population is modest. Additional studies are required before this variant can be definitively excluded from clinical interpretation. - Source: PubMed
Publication date: 2026/08/25
Nemtsova Marina VMakarova Maria VDanishevich Anastasiia MByakhova Maria MMishina Olesya SKiseleva Alevtina EBelenikin Maxim SKrinitsina Anastasia ASagaydak Olesya VSemenova Anna BBodunova Natalia AKhatkov Igor EDemidova Irina ATsukanov Aleksey SGalkin Vsevolod NGadzhyeva Saida M
- Source: PubMed
- Breast cancer susceptibility genes play essential roles in DNA repair, cell-cycle regulation, and tumor suppression. The development of gene-specific DNA barcodes for diagnostic and therapeutic applications requires a clear understanding of the evolutionary conservation and specificity of these genes across related species. - Source: PubMed
Publication date: 2026/08/21
Rehman Shafee Ur