Ms. Mary L. Crumbaker
Saccomanno Research Institute
St. Mary's Hospital & Medical Center
PO Box 1628
Grand Junction, CO 81502-1628
Phone: 970-244-2497
Fax: 970-244-7082
E-mail: MCrumbaker@stmarygj.com
Number of Human Subjects projects reported: 1
| SMHSRI-95-DE-FG03-95ER62060/A7 | "Identification of Human Lung Cancer Susceptibility Genes" |
"Identification of Human Lung Cancer Susceptibility Genes"
Principal Investigator: Dr. Teresa A. Coons, St. Mary's Hospital Saccomanno Research Institute
Project started in: 1995
Funding for Human Subjects Research:
This project does not involve the use of multiple protocols/subprojects.
Institutional Review Board (IRB) Review:
Type of Review: Full Board
Approving Institution: St. Mary's Hospital Saccomanno Research Institute
Most recent approval: 05/21/02
IRB approval number: 2001-007
Number of human subjects who participated in this project/protocol/subproject in the last reporting period: 57
Reporting period for number of human subjects:
Fiscal Year 2002
Type(s) of Human Subjects Involvement:
A. Objective: The contribution of tobacco smoke products to the development of lung associated tumors has long been investigated. Recent studies have proven that a highly carcinogenic chemical component of cigarette smoke, benzo(a)pyrene, interacts with the nuclear DNA of respiratory epithelial cells resulting in mutations of the p53 tumor suppressor gene, contributing to lung carcinogenesis. It is also becoming increasingly apparent that members of certain cancer-prone families have an increased risk for developing lung cancer that is greater than that of the overall population living under relatively similar environmental conditions. This would suggest an inherited (genetic) component. The primary objectives of this project are to: 1) generate pedigrees for lung cancer susceptible families and collect tissue samples (healthy and/or tumor) from family members for molecular genetic assessments; 2) identify regions likely to contain lung cancer susceptibility genes as determined by: a) genotype/linkage analysis, and b) Loss of heterozygosity (LOH) assessments on appropriate tissues from individual families; and 3) begin to identify candidate genes within defined chromosomal intervals. The long-term goal is to characterize these "cancer causing" genes and to determine the role that this mutant gene plays in tumorigenesis. This information could lead to early lung cancer diagnosis and more effective therapies.
B. Methodology: Families chosen for this study include approximately equal numbers of both sexes from patient populations reflecting the ethnic and racial components of the areas served by St. Mary's Hospital & Medical Center, as well as families referred to the study from outside this catchment area. Comprehensive pedigrees and information on smoking, occupational and environmental exposures will be compiled for families with extensive histories of pulmonary neoplasm. Study families will be given a complete explanation of the project, the risks and benefits, as well as our expectations in regards to the availability of health related information and biological samples. For family members outside the catchment area, this interview will be conducted by phone with a follow up detailed project description and informed consent sent by certified mail. Arrangements will be made for blood samples to be drawn by medical professionals both locally and for distant subjects. Study families will be analyzed using Polymerase Chain Reaction (PCR) based primers to determine the lengths of simple sequence repeats and genetic segregation, and linkage analysis will be performed to locate a susceptibility locus.
C. At no time are these subjects either intentionally or unintentionally exposed to any of the following substances: ionizing radiation, radioactive substances, or any other chemical substance.
D. Involvement of Human Subjects: The families will be selected based on the following criteria:
1. Male or female relatives (by blood or marriage) or a proband with a tissue confirmed primary lung carcinoma. These include, but are not limited to, siblings, offspring, parents, grandparents, aunts, uncles and cousins.
2. Study subjects will be asked to sign an informed consent to participate in the study. Also they will be requested to sign a medical release for information/specimen acquisition.
3. 20 - 40 ml. of venous blood from each participating living family member.
The risks associated with venipuncture draw include possibility of discomfort at the needle sight, slight bleeding, fainting, risk of bruise and infection. Patients will be given instructions on the care of the venipuncture site, and immediate necessary short-term medical care will be provided without cost to the subject. There is a possibility that participation in this study may make subjects feel emotionally uncomfortable as talking about family health problems may be difficult.
We will not release any information about any study patient without written permission. This includes the release of information to: other family members, insurance company or employer. Subjects are informed that some isolated instances are known where information about an individual's participation in such a research study have been obtained by third parties and has affected their ability to obtain insurance. Access to any medical records and/or stored samples by the researchers are for research purpose only and are maintained according to current legal requirements, and may be made available for review, if required by the FDA or other authorized users, but only under the guidelines established by the Federal Privacy Act. No patient identifiable information will be used in any presentation or published study.
Patients are explained the consent process including methods, inconveniences, risks, benefits, and are given time for any questions prior to the signing of the Informed Consent Document. They are informed that they are being invited to voluntarily participate in the study and that they are free to withdraw at anytime without incurring ill will or any possibility that their withdrawal will affect their future medical care.