# CYTOGENETICS OF FAMILIAL MEDULLARY THYROID CARCINOMA

> **NIH NIH R01** · DARTMOUTH COLLEGE · 1987 · $129,276

## Abstract

Familial medullary carcinoma of the thyroid (MCT) is a malignant neoplasm
of the calcitonin-producing C-cells of the thyroid gland, inherited in an
autosomal dominant pattern with a high degree of penetrance.  The tumor and
its pre-malignant precursor, C-cell hyperplasia, can be detected in
affected individuals by the presence of elevated serum calcitonin levels,
usually following provocative challenge with an agent that stimulates
calcitonin secretion.

Cytogenetic studies of this disease in several laboratories have produced
conflicting results indicating possible genetic heterogeneity among
families in which the gene for MCT is present.  In 3 MCT families that we
have been studying chromosome instability and consistent karyotypic
abnormalities did not appear to be present.  MCT tumors, however, were
karyotypically abnormal.  Chromosomal fragile sites, which may be heritable
or spontaneous, can be experimentally induced in susceptible individuals.
Some fragile sites are now known to correspond to breakpoints associated
with certain cancers and/or oncogene locations.  We propose to continue the
cytogenetic study of familial MCT with the specific aim of answering the
following questions:

1. Is there increased chromosomal fragility in familial MCT?

2. Is any specific fragile site associated with MCT?

3. What is the chromosome complement of medullary carcinoma of the thyroid,
i.e. of the tumor tissue per se?

4. Can high-resolution banding of the tumor cell chromosomes be
accomplished?

Our ultimate goal is to find a cytogenetic test for the presence of the MCT
gene and/or cytogenetic guide to the appropriate probes to study this
disease at the molecular level.  Methods will involve modifications of
known, routine cytogenetic procedures.

## Key facts

- **NIH application ID:** 3170679
- **Project number:** 5R01CA032832-05
- **Recipient organization:** DARTMOUTH COLLEGE
- **SAM.gov UEI:** EB8ASJBCFER9
- **Principal Investigator:** DORIS H WURSTER-HILL
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 1987
- **Award amount:** $129,276
- **Award type:** 5
- **Project period:** 1982-09-01 → 1989-09-29

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/3170679

## Citation

> US National Institutes of Health, RePORTER application 3170679, CYTOGENETICS OF FAMILIAL MEDULLARY THYROID CARCINOMA (5R01CA032832-05). Retrieved via MORVS 2026-10-25 from https://api.morvs.ai/grant/nih/3170679. Licensed CC0.

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