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Genetic Epidemiology of Lung Cancer

5 Years
Open (Enrolling)
Lung Cancer

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Trial Information

Genetic Epidemiology of Lung Cancer

Lung cancer is the leading cause of cancer death in the US, and represents a significant
burden on health care resources. Accumulated evidence suggests that there are genetic
susceptibility components in lung cancer, and that gene-environment interactions are
important. While major breakthroughs have been made in understanding the genetic
susceptibility basis of other cancers, studies to identify specific major loci affection
lung cancer risk are notably lacking. The high case fatality rate (14 percent 5-year
survival rate) and low resection rate (25 percent) makes the study of lung cancer families
particularly challenging because it is difficult to collect adequate numbers of biospecimens
for DNA analysis. Only a collaborative effort to identify, accrue, and genotype familial
lung cancer (FLC) families will be successful in characterizing the genetic basis of
familial lung cancer.

This project is part of a multi-center, multi-investigator, interdisciplinary team highly
experienced in genetic epidemiology, gene mapping, lung biology, and cancer molecular
genetics, known as the Genetic Epidemiology of Lung Cancer Consortium (GELCC) formed to
identify a lung cancer susceptibility gene(s) and to estimate gene-environment interaction
in the etiology of this neoplasm in order to elucidate a strategy for the prevention,
control and clinical management of this disease through identification of genetically
high-risk individuals.

Confirmation of a genetic predisposition for lung cancer may be possible by using linkage
analysis to localize the putative susceptibility gene to a specific chromosomal region. The
strength of linkage analysis is dependent upon the recruitment of multiple large kindreds
for which tissue samples are available and the history of tumor incidence exists for two,
preferably more, generations. Our strategy is to combine the most informative pedigrees but
preferably eventually up to 500 pedigrees. This strategy yields a substantial increase in
power and cost-effectiveness over the usual strategy of each site working independently and
genotyping many marginally informative families. To date this strategy appears successful,
in that results from our first 52 genotyped families resulted in significant evidence in
favor of linkage to a region on chromosome 6q and suggestive evidence for several other
regions. We believe that ongoing data collection and analysis of these preliminary results
will also be fruitful. Recently, the National Cancer Institute funded this ongoing project
in a competitive renewal (5 years) of our multi-center R01 that supports data collection and
work at all sites besides NHGRI and NCI.

All data collection is under the direction of each P.I. at the data collection sites and
funded by their respective grants and contracts. NHGRI investigators do not have any
contact with study subjects and no NHGRI employees receive any funds from these grants.
Because this disorder is complex and has a high likelihood of being caused by multiple loci,
multiple parametric and non-parametric methods of analysis will be employed. Heterogeneity
will be taken into account during these analyses, as will environmental covariates, such as
the effect of smoking. Only statistical analyses are performed at the NHGRI site, but
laboratory work ranging from genotyping, sequencing, array CGH, model organism experiments
and other methods occurs at other sites as part of this collaboration.

Inclusion Criteria


All individuals with a histologically confirmed diagnosis of lung cancer or a family of
lung cancer are eligible to enroll their family in the study. Five major histologic types
of lung cancer, i.e., adenocardinoma, squamous cell, small cell, large cell, and
unspecified nonsmall cell carcinoma will be included. In addition to lung cancer
patients, LSU will also contact patients newly diagnosed with bronchus or tracheal cancer
in target hospital areas to request their enrollment in their study. In addition, several
sites including LSU, Mayo Clinic and Karmanos Cancer Institute also collect DNA samples
from unaffected, geographically and ethnically matched controls.

For the purposes of this study, an eligible family must meet the minimum criteria for
familial lung cancer: at least 2 first-degree relatives in the family have had lung
cancer. Priority will be given to more highly loaded pedigrees and to families in which
the affected persons had onset of the disease at an early age (less than 50 years). Lung
cancer cases may be living or deceased. Relatives with lung cancer are defined as first-
o second-degree relatives or cousins of index cases will be eligible to participate in the
study because their familial relationships might provide useful linkage information.

Adult participants must be physically able to tolerate removal of 25 to 40 ml of blood, or
buccal brush sampling of their cheek. Children above 5 years old must be able to
physically tolerate an amount of blood drawn that is equal to 4ml/kg of their weight.
Adults must be willing to complete a self-administered environmental exposure
questionnaire, and all participants must be able to consent to the study procedures (or
have appropriate assent/parental consent). Biological specimens, including blood samples,
archived tumor blocks and other medical records will be obtained from patients treated at
the various hospitals and collection sites and from individuals with strong family history
of lung cancer (either affected or unaffected) who have either been self-referred or
physician referred to the study.


Excluded from the study are families or individuals within the family who do not meet the
minimum criteria described above. Individuals who do not sign the Consent Form will be
excluded, and families for whom all necessary members do not sign the Consent Form may be
excluded. MAYO also excludes patients who (1) do not speak English, (2) are non-US
citizens or residents and (3) are diagnosed with an uncommon tumor type that is not among
the above specified types (e.g.) mixed cell or unspecified non-small cell lung cancer,
carcinoids, sarcomas and lymphomas of the lung and bronchus). This is done at MAYO
because the family study is piggy-backed onto a case-control study. No fetuses, prisoners
or institutionalized individuals will be enrolled. While this study does not target
pregnant women, because contact with many of the families will be by mail we will not be
able to exclude pregnant women. Additionally, the participant's own physician or health
care clinic will draw blood samples from long-distance participants and therefore can
determine if there is any risk to the woman or her fetus. UMHS also excludes children as
research participants in their site.

Type of Study:


Study Design:


Principal Investigator

Joan Bailey-Wilson, Ph.D.

Investigator Role:

Principal Investigator

Investigator Affiliation:

National Human Genome Research Institute (NHGRI)


United States: Federal Government

Study ID:




Start Date:

August 2003

Completion Date:

Related Keywords:

  • Lung Cancer
  • Linkage
  • Genetics
  • Association
  • Lung Neoplasms



National Human Genome Research Institute (NHGRI), 9000 Rockville Pike Bethesda, Maryland  20892