Neoplasms

Skin and Connective Tissue Diseases

All Conditions

Symptoms and General Pathology

Skin Neoplasms

Disease Susceptibility

Skin Diseases

Asp299Gly SNP in the third exon of the TLR4 gene will be detected in blood

Detection of single nucleotide polymorphisms (SNP)

Nabiha Yusuf

Toll-like receptors (TLRs) play a key role in the innate immune system. Toll-like receptor-4 (TLR4) in particular, appears to play a role in susceptibility to cancer. Of 44 identified SNPs (small nucleotide polymorphisms) in TLR4, the most common is an A-G substitution at nucleotide position +896, downstream of the cDNA start codon, a missense mutation which leads to an amino acid substitution Asp299Gly in the third exon of the TLR4 gene. Pre-clinical studies from our laboratory have shown an association of TLR4 with ultraviolet radiation induced skin cancer. Hence, in this study we will assess the pattern of TLR4 polymorphisms and susceptibility to skin cancer.

Toll-like receptors (TLRs) play a key role in the innate immune system. Toll-like receptors generally, and TLR4 in particular, appear to play a role in cancer susceptibility as well as tumor immunosuppression and stromal invasion. Of 44 identified SNPs (small nucleotide polymorphisms) in TLR4, the most common is an A-G substitution at nucleotide position +896, downstream of the cDNA start codon, a missense mutation which leads to an amino acid substitution Asp299Gly in the third exon of the TLR4 gene, and which was later shown to co-segregate with SNP Thr399Ile-also in the third exon of TLR4.1 This SNP, present in 10% of the general population, has been found associated with gastric cancer, prostate cancer, and nasopharyngeal cancer.2-4 Pre-clinical studies from our laboratory have shown an association of TLR4 with ultraviolet radiation induced skin cancer. Hence, in this study we will assess the pattern of TLR4 polymorphisms and susceptibility to skin cancer.

TLR4 Polymorphisms and Risk of Skin Cancer

TLR4 Polymorphisms and Predisposition for Skin Cancer Development

University of Alabama at Birmingham

Associate Professor

Mouth and Tooth Diseases

Ear, Nose, and Throat Diseases

Rare Diseases

Carcinoma

Nasopharyngeal Carcinoma

Neoplasms, Glandular and Epithelial

Neoplasms by Histologic Type

Nasopharyngeal Neoplasms

Pharyngeal Neoplasms

Otorhinolaryngologic Neoplasms

Head and Neck Neoplasms

Nasopharyngeal Diseases

Pharyngeal Diseases

Stomatognathic Diseases

Otorhinolaryngologic Diseases

validation group

shengqi wu, M.D.

Warburg effect is an important feature of tumors,and genetic variation is one of the main factors of individual differences to radiotherapy treatment response for nasopharyngeal carcinoma(NPC). Through the previous work investigators found that the p53 codon72 (Pro/Arg) was related to the prognosis of NPC; Using the method of proteomics, investigators discovered glycolysis related gene such as PGK1, ALDOA，was associated with radiosensitivity.Thus,with all the previous work,investigators hypothesize that the key gene polymorphisms in glycolytic pathway, such as p53 , influence the glycolytic pathway,which leads to differences in radiosensitivity of NPC. This projects will include 600 cases of patients with NPC to detect common glycolytic key genes polymorphisms. Besides,investigators correlate these factors with their radiosensitivity and prognosis.Then, prediction model will be established, and validation of the prediction model will be done. Using enzyme-labeling instrument ，comet assay and clonogenic assay，cytological experiments will further investigate the influence of key gene polymorphisms on the glycolysis efficiency and mechanism of radiation sensitivity.Thus,investigators could provide theoretical basis of individualized treatment for NPC.

Polymorphisms in Key Genes of Glycolytic Pathway: Influence on Radiosensitivity in Nasopharyngeal Carcinoma

Hunan Province Tumor Hospital

chief of thoracic radiation oncology department

Musculoskeletal Diseases

Nervous System Diseases

Breast Neoplasms

Arthralgia

Breast Diseases

Joint Diseases

Pain

Neurologic Manifestations

All Drugs and Chemicals

Aromatase Inhibitors

Acupuncture group Patients with breast cancer who experienced AIA were assessed by the Brief Pain Inventory (BPI)scale and McMasters College Osteoarthritis Index Score (WOMAC). Patients who met the criteria for inclusion would receive regular acupuncture treatment. The location of acupuncture is based on the principles of acupuncture treatment in Traditional Chinese medicine. Patients with high scores and obvious pain received standardized acupuncture treatment, and standard acupuncture points and most painful joint (up to 3) specific point. Meanwhile, blood samples of patients were collected, and SNP related to AIA was screened through SNP typing technology.

Acupuncture group

Jiuda Zhao, M.D.

Purpose:Acupuncture for arthralgia induced by aromatase inhibitors in patients with breast cancer associated with screening of SNPs.

Aromatase inhibitor-induced arthralgia (AIA) is the most common side effect of aromatase inhibitors (AIs) used in breast cancer , may cause poor adherence to AIs. Studies have shown that acupuncture has a certain therapeutic effect on AIA in breast cancer. In this study, acupuncture was used to relieve the symptoms of arthralgia in patients, and the efficacy of acupuncture was observed by using relevant scales. Currently, studies have shown that AIA in breast cancer patients is related to some biological factors.

At the same time, we collected peripheral blood samples of patients, combined with the reported relevant literature, screened out the single nucleotide polymorphisms(SNP) related to AIA and to guide acupuncture treatment of aromatase Inhibitors induced arthralgia, balance the toxicity of endocrine therapy, and improve compliance and effectiveness.

Genetic Predictors to Acupuncture Response for Arthralgia Induced by Aromatase Inhibitors in Patients With Breast Cancer

Changes in arthralgia scores were measured by the Brief Pain Inventory (BPI) before and after acupuncture treatment.

Changes in arthralgia scores were measured by the McMasters College Osteoarthritis Index Score (WOMAC) scales before and after acupuncture treatment.

Affiliated Hospital of Qinghai University

Professor

Digestive System Diseases

Colorectal Neoplasms

Intestinal Neoplasms

Gastrointestinal Neoplasms

Digestive System Neoplasms

Gastrointestinal Diseases

Colonic Diseases

Intestinal Diseases

Rectal Diseases

Micronutrients

Bone Density Conservation Agents

Vitamins

Vitamin D

Cholecalciferol

Vitamin D3

Calciferol

1038 participants diagnosed with colorectal cancer from the Diet, Cancer and Health cohort.

1857 persons randomly selected within the full cohort at time of entry into the Diet, Cancer and Health cohort. These participants serve as controls for the colorectal cancer cases.

Information on diet, lifestyle, weight, height, medical treatment, environmental exposures, and other socio-economic factors were collected at enrolment using questionnaires and interviews

Observational

Vibeke Andersen, MD, PhD

The aim of this study is to investigate the interaction between intake of vitamin D and polymorphisms in GC and CYP2R1 in relation to risk of colorectal cancer in a Danish prospective cohort study.

The association between vitamin D and incidence of colorectal cancer (CRC) has been thoroughly investigated in both observational and experimental studies, but the results are conflicting. Genetic epidemiology is an advantageous alternative to randomized, clinical trials for ethical and economic reasons.

The aim of this study is to investigate whether polymorphisms in GC and CYP2R1 that predicts 25-hydroxycholecalciferol (25(OH)D) concentrations after both ultraviolet B radiation and consumption of vitamin D3-fortified bread and milk in Danes are associated with risk of CRC; and further, to examine whether intake of vitamin D through diet and supplementation alter the risk of CRC.

Data are retrieved from the Danish prospective "Diet, Cancer and Health" study encompassing 57,053 persons which were recruited between 1993 to 1997. Between 1994 and 31th December 2009, 1038 CRC cases has been diagnosed. A sub-cohort of 1857 persons has been randomly selected within the full cohort at time of entry into the cohort. The study design is a nested case-cohort study.

Vitamin D, Genes and Colorectal Cancer

Associations Between Genetically Determined Low Vitamin D Level, Vitamin D Intake and Risk of Colorectal Cancer in a Prospective Case-cohort Study in Danes

Risk of coloractal cancer compared to healthy sub-cohort members and interaction with Vitamin D metabolizing genes and vitamin D intake

Danish Cancer Society

University of Southern Denmark

Clinical Professor

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
TLR4 Polymorphisms and Risk of Skin Cancer	NCT03122366	Skin Cancer	Detection of si...	50 Years - 99 Years	University of Alabama at Birmingham
Polymorphisms in Key Genes of Glycolytic Pathway: Influence on Radiosensitivity in Nasopharyngeal Carcinoma	NCT02481089	Nasopharyngeal ... Single Nucleoti... Radiosensitivit...	validation grou...	18 Years -	Hunan Province Tumor Hospital
Genetic Predictors to Acupuncture Response for Arthralgia Induced by Aromatase Inhibitors in Patients With Breast Cancer	NCT05125432	Breast Cancer	Acupuncture gro...	18 Years - 75 Years	Affiliated Hospital of Qinghai University
Polymorphisms in Key Genes of Glycolytic Pathway: Influence on Radiosensitivity in Nasopharyngeal Carcinoma	NCT02481089	Nasopharyngeal ... Single Nucleoti... Radiosensitivit...	validation grou...	18 Years -	Hunan Province Tumor Hospital
Vitamin D, Genes and Colorectal Cancer	NCT03370432	Colorectal Canc...	Observational	50 Years - 64 Years	University of Southern Denmark

Spots Global Cancer Trial Database for single nucleotide polymorphisms