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
- Checkpoint kinase 2 (CHEK2) is a tumor suppressor that safeguards genome integrity in the nucleus. It is also localized at the mother centriole. But the role of CHEK2 in this structure remains unclear. The primary cilium acts as a sensory organelle that regulates various aspects of cell behavior. However, the connection between CHEK2 and primary cilia has not been elucidated. - Source: PubMed
Publication date: 2026/05/22
Wang Chia-YihChao Yu-YingChen Ting-YuLin Ruei-CiTsai Hui-ManHuang Hsiao-HanChen Zi-RongLu Fu-ISu Yu-ChiChung Bon-Chu - There have been considerable recent advances in our understanding of the genetic predisposition to testicular tumors. In germ cell tumors derived from germ cell neoplasia in situ, which comprise the majority (approximately 95%) of primary testicular neoplasms, research has firmly established a polygenic model of inheritance where risk is not conferred by single high-penetrance genes but rather by the cumulative impact of numerous common, low-penetrance risk alleles. These susceptibility loci have been identified primarily through genome wide association studies and involve genes in pathways including germ cell development, telomere maintenance, and DNA damage repair, among other pathways. A more recent significant advancement is the association of GCTs with pathogenic CHEK2 variants; this represents the first moderate penetrance predisposition gene identified for germ cell tumors. In germ cell neoplasia in situ-independent neoplasms, there is a growing number of recognized associations of sex cord stromal tumors with well-defined monogenic hereditary cancer syndromes including Carney Complex (PRKAR1A), Peutz-Jeghers Syndrome (STK11), and HLRCC (FH). Further associations with Familial Adenomatous Polyposis Syndrome (APC) and DICER1-Syndrome have also recently been described but require further confirmation. This review discusses the genetic predispositions across testicular cancer, with an emphasis on areas for future research. - Source: PubMed
Publication date: 2026/05/06
Siegmund Stephanie E - Secretory breast carcinoma (SBC) is an extremely rare subtype, accounting for ~1% of breast cancers but representing the most common malignant breast tumor in pediatric patients. Although generally indolent, SBC carries a risk of local recurrence even decades after treatment. Its defining molecular hallmark is the ETV6-NTRK3 fusion. - Source: PubMed
Publication date: 2026/05/14
Vlahović ANikolić SDjuričić S MDunđerović DIlić NSarajlija ADenčić Fekete MCvetinović AVasić M - Pituitary adenomas are increasingly recognised to have a germline genetic component in a subset of patients, particularly those with young-onset disease, familial clustering or syndromic features. The spectrum of germline variants implicated in pituitary tumorigenesis has broadened considerably, with evidence of both established predisposition genes and a growing number of emerging candidate genes. Established germline predisposition genes - namely, MEN1, PRKAR1A, AIP, CDKN1B, GPR101, SDHx and MAX - remain central to our understanding of familial pituitary adenoma predisposition and have defined roles in specific clinical contexts which influence adenoma phenotype, age at presentation, surveillance strategies and family screening. Beyond this, a set of less prevalent variants in other genes - for example, CABLES1, CDH23, PAM, CHEK2 and the mismatch repair (MMR) genes - are emerging as potential contributors, although the pathogenicity and clinical relevance of these genes remain to be fully established. Identifying causative germline variants in people with pituitary adenomas offers the opportunity of personalised care via gene-specific surveillance strategies, prognostication, cascade testing and reproductive planning to the potential benefit of the individual as well as their families. In this review, we provide a clinically-orientated overview of the established and emerging genes implicated in the germline predisposition to pituitary adenomas. We also present a contemporary clinical approach to germline genetic testing in patients with pituitary adenomas. - Source: PubMed
Publication date: 2026/05/16
Mignone EdwardSorvina AlexandraTorpy David JScott Hamish SDe Sousa Sunita M C - Patients with breast cancer in Ethiopia are generally diagnosed with late-stage disease, and there is a high proportion of young female and male patients. The role of genetic predisposition is yet unknown in this setting. To increase the knowledge about hereditary breast cancer in Ethiopia, this study investigated germline pathogenic variants (PVs) in breast cancer-predisposing genes in a high-risk cohort of young women and men with breast cancer. - Source: PubMed
Publication date: 2026/05/15
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