CHEK2 gene alterations in the forkhead-associated domain, 1100delC and del5395 do not modify the risk of sporadic pancreatic cancer.
Summary of "CHEK2 gene alterations in the forkhead-associated domain, 1100delC and del5395 do not modify the risk of sporadic pancreatic cancer."
Checkpoint kinase 2 gene (CHEK2) alterations increase risk of several cancer types. We analyzed selected CHEK2 alterations in 270 Czech pancreatic cancer patients and in 683 healthy controls. The pancreatic cancer risk was higher in individuals who inherited rare alterations in CHEK2 region involving forkhead-associated domain other than I157T (OR=5.14; 95% CI=0.94-28.23) but the observed association was non-significant (p=0.057). The most frequent I157T mutation did not alter the pancreatic cancer risk and neither the followed deletion of 5395bp nor c.1100delC were found in any of pancreatic cases. We conclude that the I157T, other alterations in its proximity, del5395 and c.1100delC in CHEK2 do not predispose to pancreatic cancer risk in the Czech population.
Affiliation
Toxicogenomics Unit, National Institute of Public Health, Srobarova 48, 100 42, Prague 10, Czech Republic; 1st Faculty of Medicine, Charles University in Prague, Katerinská 32, 121 08, Prague 2, Czech Republic.
Journal Details
This article was published in the following journal.
Name: Cancer epidemiology
ISSN: 1877-783x
Pages:
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/20643596
- DOI: http://dx.doi.org/10.1016/j.canep.2010.06.008
Medical and Biotech [MESH] Definitions
Hepatocyte Nuclear Factor 3-alpha
A forkhead transcription factor that is an essential activator of GLUCAGON gene expression.
T-box Domain Proteins
Proteins containing a region of conserved sequence, about 200 amino acids long, which encodes a particular sequence specific DNA binding domain (the T-box domain). These proteins are transcription factors that control developmental pathways. The prototype of this family is the mouse Brachyury (or T) gene product.
Pou Domain Factors
A family of transcription factors characterized by the presence of a bipartite DNA-binding domain known as the POU domain. The POU domain contains two subdomains, a POU-specific domain and a POU-homeodomain. The POU domain was originally identified as a region of approximately 150 amino acids shared between the Pit-1, Oct-1, Oct-2, and Unc-86 transcription factors.
Caspase 8
A long pro-domain caspase that contains a death effector domain in its pro-domain region. Caspase 8 plays a role in APOPTOSIS by cleaving and activating EFFECTOR CASPASES. Activation of this enzyme can occur via the interaction of its N-terminal death effector domain with DEATH DOMAIN RECEPTOR SIGNALING ADAPTOR PROTEINS.
Caspase 10
A long pro-domain caspase that contains a death effector domain in its pro-domain region. Activation of this enzyme can occur via the interaction of its N-terminal death effector domain with DEATH DOMAIN RECEPTOR SIGNALING ADAPTOR PROTEINS. Caspase 10 plays a role in APOPTOSIS by cleaving and activating EFFECTOR CASPASES. Several isoforms of this protein exist due to multiple alternative splicing of its MESSENGER RNA.
PubMed Articles
Gene expression profiling assigns CHEK2 1100delC breast cancers to the luminal intrinsic subtypes.
CHEK2 1100delC is a moderate-risk cancer susceptibility allele that confers a high breast cancer risk in a polygenic setting. Gene expression profiling of CHEK2 1100delC breast cancers may reveal clue...
Irrelevance of CHEK2 variants to diagnosis of breast/ovarian cancer predisposition in Polish cohort.
CHEK2 gen encodes cell cycle checkpoint kinase 2 that participates in the DNA repair pathway, cell cycle regulation and apoptosis. Mutations in CHEK2 gene may result in kinase inactivation or reduce b...
Absence of CHEK2*1100delC mutation in families with hereditary breast cancer in North America.
The CHEK2*1100delC mutation has been reported to confer a twofold increased risk of breast cancer among carriers. The frequency of the mutation varies among populations. The highest frequency has been...
CHEK2*1100delC homozygosity in the Netherlands-prevalence and risk of breast and lung cancer.
The 1100delC mutation in the CHEK2 gene has a carrier frequency of up to 1.5% in individuals from North-West Europe. Women heterozygous for 1100delC have an increased breast cancer risk (odds ratio 2....
CHEK2 gene mutations occur in a subset of patients with familial breast cancer, acting as moderate/low penetrance cancer susceptibility alleles. Although CHEK2 is no longer recognized as a major deter...
Clinical Trials
Ocular Imaging With Spectral Domain Optical Coherence Tomography
The purpose of this study is to analyze macular retinal thickness and macular volume using the spectral domain - optical coherence tomography (SD-OCT) in normal eyes and in eyes with vario...
Pilot Study To Evaluate Optical Frequency Domain Imaging For Diagnosis Of Central Airway Disease
To evaluate the potential of a new imaging device, termed Optical Frequency Domain Imaging (OFDI), in the early diagnosing of pulmonary malignancies in the central airways.
To evaluate the safety and efficacy of subcutaneous administration of omacetaxine mepesuccinate (HHT) in achieving a clinical response in CML patients in chronic, accelerated, or blast pha...
The purpose of this research study is to: - see if gefitinib pills can shrink Stage 1 or 2 non-small cell lung cancers before surgery - see if your non-small cell lung c...
Enteric Nervous System in Parkinson's Disease
The "core" of the neuronal lesions in Parkinson's disease (PD) is the progressive degeneration of dopamine neurons in the substantia nigra. A significant loss of dopamine neurons and the p...
