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Genetic Analysis of Inherited Urologic Malignant Disorders: Collection of Samples


N/A
N/A
N/A
Not Enrolling
Both
Neoplastic Syndromes, Hereditary, Urologic Neoplasms

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Trial Information

Genetic Analysis of Inherited Urologic Malignant Disorders: Collection of Samples


Investigation of the causes of genetic defects relating to hereditary urologic malignancies
will be undertaken. These rare disorders result from inherited or newly arising mutations
in genes involved in the development and function of different organ systems. As specific
disease syndromes are recognized and the responsible genes identified, mutations in
individual families can be identified. Correlation of mutation sites with clinical
information will help determine how specific gene segments encode important functional
protein domains.

Families with urologic malignant disorders of known or suspected genetic basis will be
enrolled. Genetic linkage studies will include all available family members, while gene
sequence analysis will be performed on affected individuals. Unaffected family members or
unrelated normal individuals will serve as controls. The family members will be identified
by the proband or proband's parent when the initial pedigree is taken. Subjects considered
by the investigators to be appropriate for linkage studies will be invited to participate by
the local genetics provider or by the investigators, who will then connect these members to
their own local providers for enrollment.

In our studies of inherited urologic malignant disorders, there may be individuals from
renal cancer families who do not undergo clinical evaluation for the presence of an
inherited urologic malignant disorder at the National Institutes of Health because of their
health problems, geographical location, or personal preference. Even though these
individuals do not undergo a clinical evaluation of their suspected inherited urologic
malignant disorder at the National Institutes of Health, they may have rare diseases that
are extremely important to study. Therefore, we intend to collect blood samples for genetic
studies from these individuals to facilitate linkage analysis and disease gene
identification. Samples will be collected either by the individual's physician and sent to
NIH, or will be collected by NIH physicians at either the individual's off-site location or
at the NIH.

Inclusion Criteria


Category I: Individuals and family members with established diagnoses of hereditary
malignancies where the disease gene is known, specifically von Hippel Lindau or HPRC.

Category II: Individuals and family members with malignant disorders where the disease
gene is not yet known, specifically hereditary forms of Type II papillary renal cancer,
clear cell renal carcinoma, renal oncocytoma or chromophobe renal carcinoma or Birt Hogg
Dube syndrome.

Category III: Malignant diseases of suspected, but not proven genetic etiology, including
families with more than one individual affected by the same or related cancers.

Type of Study:

Observational

Study Design:

N/A

Authority:

United States: Federal Government

Study ID:

990101

NCT ID:

NCT00001814

Start Date:

April 1999

Completion Date:

January 2001

Related Keywords:

  • Neoplastic Syndromes, Hereditary
  • Urologic Neoplasms
  • Hereditary
  • Kidney
  • MET
  • Oncocytoma
  • VHL
  • Neoplasms
  • Neoplastic Syndromes, Hereditary
  • Urologic Neoplasms

Name

Location

National Cancer Institute (NCI)Bethesda, Maryland  20892