Neoplasms

Urinary Tract, Sexual Organs, and Pregnancy Conditions

All Conditions

Nervous System Diseases

Heart and Blood Diseases

Diseases and Abnormalities at or Before Birth

Symptoms and General Pathology

Skin and Connective Tissue Diseases

Rare Diseases

Carcinoma, Renal Cell

Von Hippel-Lindau Disease

Kidney Neoplasms

Urologic Neoplasms

Urogenital Neoplasms

Urogenital Diseases

Female Urogenital Diseases

Pregnancy Complications

Female Urogenital Diseases and Pregnancy Complications

Kidney Diseases

Urologic Diseases

Male Urogenital Diseases

Syndrome

Neurocutaneous Syndromes

Angiomatosis

Vascular Diseases

Ciliopathies

Congenital Abnormalities

Abnormalities, Multiple

Genetic Diseases, Inborn

Renal Cell Carcinoma

Neil E Caporaso, M.D.

The Von Hippel-Lindau (VHL) Disease Genetic Epidemiology Study is a family-based case-control study to be conducted by the National Cancer Institute. The study subjects are 603 individuals who were determined to belong to families with VHL disease confirmed through screening under NIH protocol #89-C-0086 between 1988 and 1998. There are 293 patient volunteers with VHL disease and 310 volunteer patients free of VHL disease, most of whom have already had genetic testing for mutations in the VHL gene. Adults as well as children aged 13 - 17 will be included. All subjects will give informed consent prior to participation; for minor subjects, assent will be obtained from the minor and consent from the parent/guardian. This protocol provides the potential to benefit people with VHL disease (although not necessarily the study subjects themselves) and possibly people with sporadic (non-hereditary) forms of the tumors which occur in VHL disease. The risks and discomfort associated with this study are minor.

The present protocol is a new epidemiologic component to VHL research at NIH which will relate the expression of VHL tumors to lifestyle factors (tobacco and alcohol use; physical activity), occupational exposures, reproductive and hormonal factors, demographic factors, medication use, diet, and putative susceptibility genes. Information will be collected by telephone interview and a written, self-administered diet questionnaire. A cheek cell sample will be obtained for analyses of genetic polymorphisms. Medical records will be obtained to document events reported by the subject at interview. Primary comparisons will be between VHL patients with a particular manifestation and VHL patients who are free of that condition. Additional comparisons may be made with unaffected family members who lack a mutation in the VHL gene, as appropriate.

Von Hippel-Lindau Disease Genetic Epidemiology Study

Von Hippel-Lindau (VHL) Disease Genetic Epidemiology Study

National Cancer Institute (NCI)

Respiratory Tract (Lung and Bronchial) Diseases

Adenocarcinoma

Lung Neoplasms

Adenocarcinoma of Lung

Respiratory Tract Neoplasms

Thoracic Neoplasms

Lung Diseases

Respiratory Tract Diseases

Lung Adenocarcinoma

Chao Hsiung, PhD

Lung adenocarcinoma in Chinese females is hypothesized to be determined by both genetic and environmental factors. In this grant proposal, we propose to map the loci of susceptibility genes of female lung adenocarcinoma based on multiplex families recruited in Taiwan. We focus on a unique pathological type of a unique population in order to reduce heterogeneity of the genetic background. Compared with western women, female Chinese population has a high prevalence of lung adenocarcinoma. Our reasoning is that if we focus on a specific sub-type, which has a familial basis, we will increase the probability of identifying genes associated with female lung adenocarcinoma. The primary goal of this study is to identify the genetic and environmental determinants of female lung adenocarcinoma, and study the relationship between gene polymorphisms and clinical manifestation profiling of lung cancer.

This research proposal intends to integrate epidemiologists, biostatisticians, clinicians, molecular biologists/geneticists to identify susceptible genes for lung cancer, especially for female lung adenocarcinoma, and to study the relationship between gene polymorphisms and clinical outcomes of lung cancer patients. Our objective is to find gene markers for developing useful screening tools for the high risk group in order to prevent or early detect lung cancer, especially female lung adenocarcinoma.

The specific aims of this subproject include:

1. Establish and maintain the research network that will recruit and follow up the subjects and families for the GEFLAC study; keeping control of the progress of the study.
2. Coordinate all the subprojects such as integrating genotyping data with clinical data and environment data.
3. Continue to employ the candidate gene approach to examine the contribution of specific genes to the lung cancer.
4. Generate genotyping data for candidate genes in the exploring stage and prioritize SNPs of candidate genes for large scale studies.
5. Identify susceptible genes/candidate genes to develop multiplex PCR for screening.

Genetic Epidemiological Study of Lung Cancer in Taiwan and Clinical Applications

Genetic Epidemiological Study of Lung Cancer in Taiwan and Clinical Applications-focusing on Female Lung Adenocarcinoma (GEFLAC)

Study title	NCT ID	Conditions	Eligibility	Organization
Von Hippel-Lindau Disease Genetic Epidemiology Study	NCT00001803	Von Hippel Lind... Kidney Neoplasm...	13 Years - 100 Years	National Institutes of Health Clinical Center (CC)
Genetic Epidemiological Study of Lung Cancer in Taiwan and Clinical Applications	NCT00260871	Lung Cancer	-	National Health Research Institutes, Taiwan
Von Hippel-Lindau Disease Genetic Epidemiology Study	NCT00001803	Von Hippel Lind... Kidney Neoplasm...	13 Years - 100 Years	National Institutes of Health Clinical Center (CC)

Spots Global Cancer Trial Database for genetic epidemiology