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
- Hereditary breast and ovarian cancer (HBOC) syndromes are strongly associated with germline pathogenic variants. While genetic testing historically focused on BRCA1/2, multigene panels have revealed clinically relevant variants in numerous non-BRCA genes. However, data on the spectrum and prevalence of these variants remain limited in Argentina, particularly in regions with distinctive admixture patterns. This study aimed to determine the frequency and spectrum of pathogenic and likely pathogenic variants (P/LPVs) in non-BRCA genes among patients with a personal and/or family history of breast or ovarian cancer evaluated in Córdoba, Argentina. We conducted a retrospective analysis of 283 individuals tested within the Oncogenetics Program at Hospital Privado Universitario de Córdoba between 2016 and 2022 using multigene next-generation sequencing panels and Sanger sequencing according to contemporary clinical criteria. P/LPVs were identified in 85 individuals (30.0%, 95% CI: 24.7-35.8), with non-BRCA genes accounting for 32 P/LPVs (11.3%, 95% CI: 7.9-15.6 of the cohort). The most prevalent non-BRCA genes were PALB2 (4.59%, 95% CI: 2.5-7.7) and CHEK2 (2.47%, 95% CI: 1.0-5.0), followed by TP53, MUTYH, and ATM. Notably, the PALB2 c.1653T>A variant was identified in five unrelated families, representing a recurrent variant compatible with a possible founder effect in this population. Overall, these findings highlight a substantial contribution of non-BRCA P/LPVs-particularly PALB2-in this Córdoba-based HBOC cohort. Post hoc analyses suggested sufficient statistical sensitivity to detect the observed differences; however, results should be interpreted considering the retrospective, single-center design. These findings support the clinical value of incorporating non-BRCA genes into multigene testing strategies in Argentina and underscore the need for larger multi-center studies to confirm these observations and refine genetic counseling and surveillance strategies in Latin American populations. - Source: PubMed
Martin Claudia AlejandraBono CatalinaMandrile JulianaKunst Christine Susana MercedesBorello Adriana ElizabethÁvila RodolfoSalazar Florencia CelesteMiretti VirginiaPabletich FlorenciaAndreoli VerónicaCeschin Danilo Guillermo - Triple-negative breast cancer (TNBC) is the most aggressive kind of breast cancer, with no hormone receptors and resistance to targeted therapy. Chemotherapy is the current standard; however, it is limited by toxicity, poor response, and high recurrence, emphasising the need for innovative methods. - Source: PubMed
Publication date: 2026/04/15
Munir AnumRizwan MuhammadJanbey Alan - Invasive lobular carcinoma (ILC) represents about 10% of invasive breast cancers and is increasingly considered a unique disease entity. Certain genetic mutations predispose patients to ILC, as such this study aims to explore the ILC and IDC (invasive ductal carcinoma) in a genetic context. This is a retrospective chart review study. Any patient diagnosed with either ILC or IDC and a germline mutation with a predisposition for breast cancer is included in the study. Data was analyzed by patient's demographics, group stage, family history, and genetic mutation. Additionally, each tumor was analyzed for grade and receptor status. This study reviewed 372 patients of which 88.4% had IDC and 11.6% had ILC. Our results indicate that several variants in ATM, BRCA2, CDH1, CHEK2, EPCAM, PALB2, and PMS2 are more strongly associated with ILC - to varying degrees. [p < 0.001]. Additionally, ILC tumors kept several characteristics, even in the genetic context. ILC patients had a higher median age at presentation [p = 0.043], were more likely to have a lower grade compared to ductal tumors [p < 0.001]. and be estrogen receptor positive [p < 0.001] progesterone status positive [p < 0.001] and HER2 negative [p = 0.043]. ILC patients are more likely to have certain genetic mutations over others. This can help clinicians adapt when counseling these patients. Furthermore, ILC keeps its distinctive characteristics independent of the genetic backdrop. - Source: PubMed
Publication date: 2026/04/15
Al-Masri MahmoudAlayyan OsamaSafi Yasmin - Gain or amplification of chromosome 1q (+1q) is a common genomic alteration occurring in the plasma cells in nearly 40% of multiple myeloma patients. Although it is associated with inferior outcomes and is more common in the relapsed or refractory stages, the impact of +1q at the proteomic level remains unclear. Here, we studied enriched CD138+ plasma cells in newly diagnosed multiple myeloma to uncover molecular alterations associated with +1q. Differential expression analysis revealed significantly increased expression of over 100 proteins encoded by the 1q region, indicating a potential gene dosage effect. Pathway enrichment analysis identified enrichment of cell cycle proteins such as CDK1, MCM complex, CHEK2, PSME3 and NEK7 in cases with +1q gain. Further, protein-protein interaction network analysis showed enrichment of MYC transcriptional targets in +1q cases, including increased expression of TIPRL that is encoded on 1q24. In agreement with these findings, increased TIPRL transcript expression was correlated with +1q across different cytogenetic subgroups in the CoMMpass dataset. Further, high TIPRL expression was associated with poor prognosis in patients from the hyperdiploidy subgroup. Overall, this study highlights the role of proteomics in understanding molecular events associated with chromosomal alterations in MM and identifying potential targets for further functional analysis. - Source: PubMed
Publication date: 2026/04/14
Mangalaparthi Kiran KHsu Joel-SeanWiedmeier-Nutor J ErinSen ParthoStaub JulieBhat Firdous AStein Caleb KAhmann Greg JKumar Shaji KRajkumar S VincentBergsagel P LeifFonseca RafaelBraggio EstebanKandasamy Richard KPandey Akhilesh - Colorectal cancer (CRC) is a type of malignancy with a hereditary component. In Kazakhstan, the spectrum of germline pathogenic variants (PV) among individuals with CRC remains limited. In this study, multigene panel testing was performed on a Kazakhstani cohort of CRC patients and their relatives to better understand genetic risk factors. The study included 155 CRC patients and 92 healthy relatives. Whole coding regions (> 1700 exons) and flanking noncoding sequences of 94 cancer-associated genes were analyzed using the Illumina TruSight Cancer NGS panel on blood-derived DNA. Results showed that 30 patients (19.4%) carried 31 PVs. Overall, 34.2% of patients had a family history of cancer, including 9.7% who had a family history of CRC. The most frequent germline PVs were in CHEK2 (22.58%) and APC (12.91%), followed by MLH1 (6.46%), MSH2 (6.46%), MSH6 (6.46%), MUTYH (6.46%), and BRCA1 (6.46%). Missense (35.5%) and frameshift (32.3%) variants predominated. A high number of PVs was found in individuals aged 18-44 years. Among overall identified PVs, six were novel: APC c.3405T > G, APC c.419_422delAGAG, PMS1 c.1258delC, MLH1 c.1291_1292delAT, NBN c.877delA, and EPCAM c.184 + 1G > A. The observed prevalence of clinically actionable PVs in both patients and their relatives highlights the potential clinical value of multigene panel testing and cascade screening strategies in Kazakhstan. - Source: PubMed
Publication date: 2026/04/14
Baltayev NurlanAbdikerim SaltanatAfonin GeorgiyRasulov ArsenZhunussova AigulKaidarova DilyaraZhunussova Gulnur