Recently, mutations in the genes involved in cell cycle control, including CHEK2, are being considered as etiological factors in different kinds of cancers. The CHEK2 protein plays an important role in protecting damaged DNA from entering mitosis. In this study the potential effects of two common mutations IVS2+1G?A and Ile157Thr of CHEK2 gene in differentiated thyroid carcinoma (DTC) were evaluated. A total of 100 patients admitted to the Research Institute for Nuclear Medicine were diagnosed with DTC based on pathology reports of surgery samples. An additional 100 people were selected as a control group with no cancer history. PCR-HRM (high resolution melting) analysis was performed to deal with each of mutations in all case and control samples separately. During the analysis of IVS2+1G?A and Ile157Thr mutations of CHEK2 gene in the case and control groups, all the samples were identified as wild homozygote type. The finding suggests that IVS2+1G?A and Ile157Thr mutations of CHEK2 gene do not constitute a risk factor for DTC in the Iranian population. However, further studies with a larger population are required to confirm the outcome.
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http://dx.doi.org/10.7314/apjcp.2014.15.12.5019 | DOI Listing |
Breast Cancer Res
January 2025
Servicio de Oncología, Centro Universitario Contra el Cáncer (CUCC), Hospital Universitario "Dr. José Eleuterio González", Universidad Autónoma de Nuevo León, 66451, Monterrey, Nuevo León, México.
Background: Hereditary predisposition to breast and ovarian cancer syndrome (HBOC) is a pathological condition with increased cancer risk, including breast (BC), ovarian cancer (OC), and others. HBOC pathogenesis is caused mainly by germline pathogenic variants (GPV) in BRCA1 and BRCA2 genes. However, other relevant genes are related to this syndrome diagnosis, prognosis, and treatment, including TP53, PALB2, CHEK2, ATM, etc.
View Article and Find Full Text PDFMod Pathol
January 2025
Department of Pathology, Research Institute for Medical Innovation, Radboud university medical center, Nijmegen, The Netherlands; Department of Pathology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands. Electronic address:
Pancreatic ductal adenocarcinoma (PDAC) is a lethal disease. About 10% of affected individuals have an inherited component. Deleterious germline variants increase the lifetime risk for PDAC and are often associated with an elevated risk for extra-pancreatic malignancies.
View Article and Find Full Text PDFJAMA Netw Open
December 2024
Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York.
Importance: Heterogeneity in development of estrogen receptor (ER)-specific first primary breast cancer exists due to deleterious germline variants in moderate- to high-penetrance breast cancer susceptibility genes, but it is unknown if these associations occur in ER-specific CBC.
Objective: To determine the association of deleterious germline variants in breast cancer susceptibility genes with ER-specific CBC development and whether ER status of the first primary breast cancer modifies these associations.
Design, Setting, And Participants: This case-control study included CBC cases and matched unilateral breast cancer controls from The Women's Environment, Cancer, and Radiation Epidemiology (WECARE) Study, a population-based case-control study.
JCO Glob Oncol
January 2025
Servicio de Oncología, Centro Universitario Contra el Cáncer (CUCC), Hospital Universitario "Dr. José Eleuterio González," Universidad Autónoma de Nuevo León, Monterrey, México.
Purpose: Hereditary cancer syndromes (HCS) explain 5%-10% of all cancer cases. Patients with more than one germline pathogenic variant (GPV) result in a clinical syndrome known as multilocus inherited neoplasia allele syndrome (MINAS). In recent years, an increasing number of MINAS cases have been reported.
View Article and Find Full Text PDFCureus
December 2024
Department of Biochemistry, Era's Lucknow Medical College and Hospital, Era University, Lucknow, IND.
Background: Curcumin (Cur) is a polyphenol phyto-compound found in turmeric () that inhibits tumorigenesis by introducing apoptosis and restricting cell survival and proliferation. This in vitro research article focuses on the pharmacodynamic interactions of Cur combined with the commercial drug doxorubicin (Doxo) to enhance the cytotoxicity of Doxo at lower doses against triple-negative breast cancer cells (MDA-MB-231) with the chemo-protective effect against normal HEK293 cells. In this study, we observed the dose-dependent cytotoxicity, increased reactive oxygen species (ROS) generation, and increased chromatin condensation in combination doses compared to single doses.
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