Ask about this productRelated genes to: CHK2 protein
- 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 protein
Related articles to: CHK2 protein
- 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
Ekdahl Hjelm ToveGebremariam Tewodros YalewWeldearegay Mahlet FekaduAyele Bethlehem GetachewAssefa MathewosAnberber EndaleKvist AndersTörngren ThereseBorg ÅkeMargolin SaraLindblom AnnikaAshenafi SenaitLöfgren Jenny - Genetic testing is critical in the management of breast cancer, guiding surgical decision-making, informing therapy selection, and identifying at-risk relatives. Despite its clinical importance, completion of genetic testing remains suboptimal. This study evaluated whether completion of genetic testing differed when testing was offered directly by a breast surgeon in clinic compared with the traditional referral to an external genetic specialist. - Source: PubMed
Publication date: 2026/04/22
Kenas WillAblah ElizabethOkut HayrettinZackula RoseyReyes JaredClune MarshallChristiansen GrantTenofsky Patty - Breast cancer is prevalent among millions of women worldwide and is considered one of the leading causes of cancer mortality in women. Genetic factors play a significant role in the pathogenesis and treatment options for breast cancer. Multiple genes such as BRCA1, BRCA2, CHEK2, ATM, HER2 and PALB2 play crucial roles in breast cancer development. The mechanism of action and their interaction with other genes in response to DNA damage impacts the development of cancer. The mechanism of regulation of each gene is also central when developing drug therapies targeted towards the genetic influences of breast cancer. Current FDA approved drugs and drugs in clinical trials targeted toward the genetic influences of breast cancer include those such as Talazoparib and Margetuximab. Additionally, risk assessment and genetic screening methods are incredibly important to inform patients of their individual risk for breast cancer development. Advancements in understanding of gene specific mechanism and their correlation with breast cancer pathogenesis may provide efficient strategies for precision medicine and enhancing clinical outcomes in breast cancer patients. - Source: PubMed
Publication date: 2026/05/14
Allu SahasraSaravanan YaliniSakthivel Kunnathur MurugesanChinnadurai KathirvelanKumar PavithraSaravanan MythiliRasmi Rajan Radha - Clinical guidelines recommend hereditary cancer risk assessment (HCRA) to identify candidates for genetic counselling and testing based on personal and family history. Incorporating genetic testing into HCRA improves risk stratification and management. We previously showed that process improvements increase genetic testing completion rates. This study describes outcomes of routine genetic testing in a community obstetrics and gynaecology (OB/GYN) setting. - Source: PubMed
Publication date: 2026/05/13
Waldman RichardDeFrancesco MarkFeltz JohnWelling DanielNeiman WadeSmith EdithSchneider LoganLenz LaurenJohansen Taber KatherineAdkins Royce