LINKAGE STUDIES IN HEREDITARY BREAST CANCER

Project: Research project

Description

Hereditary breast cancer (HBC) is considered to be a heterogeneous
disorder with genetic transmission by an autosomal dominantly
inherited, highly penetrant, cancer susceptibility gene(s). A
large number of kindreds segregating this trait are currently under
study by us. Recent advances in genetics, including improvements
in the human genetic linkage map, and findings of linkage in
several cancer susceptibility disorders, make linkage studies of
HBC families possible and urgent. We propose a multicentered
collaboration using extensive blood sample collection in a small
but carefully selected set of highly informative HBC families (500
individuals in 8 families) to enable the most sophisticated
molecular genetic and statistical methods, currently available, to
be applied to the search for linkage. In tandem with blood
collection for linkage studies, we will collect tumor specimens
(slides and paraffin-embedded tumor blocks) from approximately 200
breast cancer-affected members of HBC and nonHBC. We will use the
specimens to extend our pilot studies contrasting HBC and nonHBC
breast cancers as clinicopathologically distinct subsets, with
emphasis on tumor histology, mitotic grade, ploidy, and
proliferation measured by flow cytometry. We will also create and
maintain an archive of tumor specimens for future tumor marker
studies which are not part of the present proposal but which will
be targeted by findings in the linkage study. This effort harbors
the potential for identifying the HBC gene(s) and extending
knowledge of HBC's pathology so that knowledge of HBS's etiology
and pathogenesis might be further elucidated. This achievement
would have profound control implications.
StatusFinished
Effective start/end date2/1/893/31/93

Funding

  • National Institutes of Health
  • National Institutes of Health: $24,567.00
  • National Institutes of Health: $161,689.00
  • National Institutes of Health

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Breast Neoplasms
Neoplasms
Neoplasm Genes
Genetic Linkage
Ploidies
Medical Genetics
Paraffin
Histology
Flow Cytometry
Pathology