نتایج جستجو برای: chek2
تعداد نتایج: 669 فیلتر نتایج به سال:
زمینه و هدف: سرطان پستان شایعترین سرطان در میان زنان و دومین علت رایج مرگ ناشی از سرطان در خانمها میباشد. فاکتورهای ژنتیکی نقش مهمی در بروز سرطان پستان دارند. ازجمله این فاکتورهای ژنتیکی، ژنchek2(checkpoint kinase 2) میباشد که به عنوان یک ژن سرکوبگر تومور نقش مهمی در ترمیم dna آسیب دیده دارد. جهش در ژن chek2 سبب از دست رفتن این ویژگی می شود. یکی از جهشهای ژن chek2 ، جهش حذف bp5395 است که د...
Cancer is a major cause of death throughout the world, and there is a large need for better and more personalized approaches to combat the disease. Over the past decade, synthetic lethal approaches have been developed that are designed to exploit the aberrant molecular origins (i.e. defective genes) that underlie tumorigenesis. BLM and CHEK2 are two evolutionarily conserved genes that are somat...
Introduction CHEK2*1100delC is a moderate-risk breast cancer susceptibility allele with a high prevalence in the Netherlands. We performed copy number and gene expression profiling to investigate whether CHEK2*1100delC breast cancers harbor characteristic genomic aberrations, as seen for BRCA1 mutated breast cancers.
Checkpoint kinase 2 (CHEK2) is a serine/threonine kinase which is activated upon DNA damage and is implicated in pathways that govern DNA repair, cell cycle arrest or apoptosis in response to the initial damage. Loss of kinase function has been correlated with different types of cancer, mainly breast cancer. CHEK2 functionality is affected by different missense or deleterious mutations. CHEK2*1...
BRCA1 and BRCA2 germ-line mutations occur in a significant number of unselected ovarian cancer (OC) patients, thus making a noticeable contribution to OC morbidity. It is of interest whether CHEK2, which is frequently regarded as a third breast cancer specific gene, is also relevant to ovarian cancer pathogenesis. In this report we analyzed the presence of CHEK2 1100 delC founder mutation in 26...
Selenium is an essential trace element for humans, playing an important role in various major metabolic pathways. Selenium helps to protect the body from the poisonous effects of heavy metals and other harmful substances. Medical studies have provided evidence of selenium supplementation in preventing certain cancers. Low and too high selenium (Se) status correlates with increased risk of e.g. ...
We recently reported that a sequence variant in the cell-cycle-checkpoint kinase CHEK2 (CHEK2 1100delC) is a low-penetrance breast cancer-susceptibility allele in noncarriers of BRCA1 or BRCA2 mutations. To investigate whether other CHEK2 variants confer susceptibility to breast cancer, we screened the full CHEK2 coding sequence in BRCA1/2-negative breast cancer cases from 89 pedigrees with thr...
Gastric cancer (GC) is the fourth most common cause of cancer‑associated death. Based on age at diagnosis, GC divided into early‑onset (EOGC; ≤45 years) and conventional (CGC; >45 years). Mutations in cell cycle checkpoint kinase 2 (CHEK2) TP53 genes are associated with several types cancer; however, their genetic defects remain poorly understood. The aim present study was ...
BACKGROUND Chemoresistance is the main obstacle to cure in most malignant diseases. Anthracyclines are among the main drugs used for breast cancer therapy and in many other malignant conditions. Single parameter analysis or global gene expression profiles have failed to identify mechanisms causing in vivo resistance to anthracyclines. While we previously found TP53 mutations in the L2/L3 domain...
BACKGROUND Germline mutations of the CHEK2 gene have been reported to be associated with breast cancer. In this study, we analyzed the association of CHEK2 mutations with the risk of development of breast cancer in women of North-Central Poland. METHODS 420 women with breast cancer and 435 controls were tested for three protein truncating (IVS2 + 1G > A, 1100delC, del5395) and one missense (I...
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