Aim: The cell cycle checkpoint kinase 2 (CHK2) protein participates in the DNA damage response in many cell types. Germline mutations in CHK2 (1100delC, IVS2+1G>A and I157T) have been associated with a range of cancer types. This study aimed to investigate whether CHK2 1100delC, IVS2+1G>A and I157T mutations play an important role in the development of hepatocellular carcinoma (HCC) in a Turkish population.
Methods: A total of 165 hepatocellular cancer cases and 446 cancer-free controls were genotyped for CHK2 mutations by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and allele specific-polymerase chain reaction (AS-PCR) methods.
Results: We did not find CHK2 1100delC, IVS2+1G>A and I157T mutations in any of 611 Turkish subjects.
Conclusion: Our results demonstrate for the first time that CHK2 1100delC, IVS2+1G>A and I157T mutations have not been a genetic susceptibility factor for HCC in the Turkish population. Overall, our data suggests that genotyping of CHK2 mutations in clinical settings in the Turkish population should not be recommended. Independent studies are needed to validate our findings in a larger series, as well as in patients of different ethnic origins.
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Roles of Chk2/CHEK2 in guarding against environmentally induced DNA damage and replication-stress.
Environ Mol Mutagen
August 2020
Department of Cell Maintenance, Institute of Molecular Embryology and Genetics, Kumamoto University, Kumamoto, Japan.
Checkpoint kinase 2 (human CHEK2; murine Chk2) is a critical mediator of the DNA damage response and has established roles in DNA double strand break (DSB)-induced apoptosis and cell cycle arrest. DSBs may be invoked directly by ionizing radiation but may also arise indirectly from environmental exposures such as solar ultraviolet (UV) radiation. The primary forms of DNA damage induced by UV are DNA photolesions (such as cyclobutane pyrimidine dimers CPD and 6-4 photoproducts) which interfere with DNA synthesis and lead to DNA replication fork stalling.
View Article and Find Full Text PDFPatient survival and tumor characteristics associated with CHEK2:p.I157T - findings from the Breast Cancer Association Consortium.
Breast Cancer Res
October 2016
Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, P.O. Box 700, 00029, HUS, Helsinki, Finland.
Article Synopsis
- The study investigates the CHEK2 missense mutation p.I157T in breast cancer patients, finding it linked to a slight increase in risk but not associated with worse survival compared to another mutation, c.1100delC.
- The analysis involved comparing tumor characteristics and survival outcomes of 26,801 European female breast cancer patients, focusing on those with p.I157T, c.1100delC, and non-carriers.
- Results show that p.I157T carriers have favorable tumor features and prognosis, aligning with the luminal A subtype, indicating that this mutation may not significantly impact survival or increase aggressive cancer traits.
CHEK2 mutations and the risk of papillary thyroid cancer.
Int J Cancer
August 2015
Department of Genetics, Holycross Cancer Centre, Kielce, Poland.
Mutations in the cell cycle checkpoint kinase 2 (CHEK2) tumor suppressor gene are associated with multi-organ cancer susceptibility including cancers of the breast and prostate. A genetic association between thyroid and breast cancer has been suggested, however little is known about the determinants of this association. To characterize the association of CHEK2 mutations with thyroid cancer, we genotyped 468 unselected patients with papillary thyroid cancer and 468 (matched) cancer-free controls for four founder mutations of CHEK2 (1100delC, IVS2 + 1G>A, del5395 and I157T).
View Article and Find Full Text PDFCHK2 1100delC, IVS2+1G>A and I157T mutations are not present in hepatocellular cancer cases from a Turkish population.
Gene
January 2013
Adıyaman University, Adıyaman School of Health, Department of Nursing, 02040 Adıyaman, Turkey.
Aim: The cell cycle checkpoint kinase 2 (CHK2) protein participates in the DNA damage response in many cell types. Germline mutations in CHK2 (1100delC, IVS2+1G>A and I157T) have been associated with a range of cancer types. This study aimed to investigate whether CHK2 1100delC, IVS2+1G>A and I157T mutations play an important role in the development of hepatocellular carcinoma (HCC) in a Turkish population.
View Article and Find Full Text PDFThe checkpointkinase 2 (CHK2) 1100delC germ line mutation is not associated with the development of squamous cell carcinoma of the head and neck (SCCHN).
J Negat Results Biomed
December 2010
Department of Otorhinolaryngology, Head and Neck Surgery, Heinrich-Heine-University Düsseldorf, Germany.
Background: The checkpointkinase 2 (CHK2) is part of the highly conserved ATM-CHK2 signaling pathway, which is activated in response to DNA damage, in particular after double strand breaks which can be caused by carcinogens like smoking. After induction of downstream targets, e.g.
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