# GENETIC EPIDEMIOLOGY OF CHILDHOOD SARCOMA

> **NIH NIH R01** · UNIVERSITY OF TX MD ANDERSON CAN CTR · 1993 · $465,418

## Abstract

We have demonstrated statistical evidence for a major gene predisposing to
cancer in kindreds of childhood and adolescent soft tissue and bone
sarcoma patients. We have evidence for heterogeneity in risk by kindred,
by generation, by sex of affected parent, and by selected proband
characteristics.  The familial pattern of cancer changes over time, with
increasing evidence for a major gene evolving after more than 20 years of
observation.  To date, some of the kindreds that provide strong evidence
for a major gene have been found to have germline mutations in the tumor
suppressor gene, p53.

We now propose to characterize the heterogeneity in risk, using a strategy
of combined linkage and segregation analysis, with the additional critical
years of observation that will accrue.  Initially we will test for linkage
to p53. However if the findings support involvement of other genetic loci,
the strategy can be generalized to identify other major genes or modifying
genes.  The immediate goal will be to identify the extent to which
germline p53 mutations can account for the observed familial cancer
aggregation, to characterize the phenotype associated with p53 germline
mutations, and to identify any variation in risk not attributable to p53
as a major gene.  findings from this project should provide sufficient
information to develop guidelines for genetic testing of childhood sarcoma
patients, guidelines for genetic counseling regarding the implications of
p53 germline mutations, and a framework from which to investigate the role
of other genetic loci in familial cancer aggregates.

## Key facts

- **NIH application ID:** 3177403
- **Project number:** 2R01CA038929-09
- **Recipient organization:** UNIVERSITY OF TX MD ANDERSON CAN CTR
- **SAM.gov UEI:** S3GMKS8ELA16
- **Principal Investigator:** LOUISE C STRONG
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 1993
- **Award amount:** $465,418
- **Award type:** 2
- **Project period:** 1984-12-01 → 1996-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/3177403

## Citation

> US National Institutes of Health, RePORTER application 3177403, GENETIC EPIDEMIOLOGY OF CHILDHOOD SARCOMA (2R01CA038929-09). Retrieved via MORVS 2026-10-25 from https://api.morvs.ai/grant/nih/3177403. Licensed CC0.

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