Vol. 17: Summer, 1999
Genetic Cancer Syndromes
Identifying Patients at Risk
For an Inherited Predisposition
to Cancer
An estimated 15% of all cancer patients have an inherited risk. The proportion of inherited cases for each specific type of cancer varies: 5% of ovarian cancer; 25% of medullary thyroid carcinoma; and 40% of retinoblastoma. To best assess a patient's risk for an inherited predisposition to cancer, it is essential to accurately detail a family medical history. The family history should be updated annually or when there have been significant changes. This history should include the following information:
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Tumor or cancer
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primary tumors only (not metastatic sites)
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cell type age at diagnosis
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bilateral vs. unilateral
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multifocality
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relationship of individual to your patient
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tumor status of relatives from three generations
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Other medical history/genetic disorders
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Benign tumors (fibroids, polyps, cysts), goiter and other endocrine abnormalities, unusual skin findings, precancerous adenomas
Indicators that families have an inherited predisposition to cancer/tumors include the following:
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two or more family members from the same side of the family with an early onset cancer.
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three or more family members, on the same side of the family, with the same type of cancer regardless of age of onset.
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multiple primary tumors in the same individual
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a pattern of tumors often seen together in a genetic syndrome:
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see breast and colon section for patterns often seen with those tumors
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medullary thyroid carcinoma, hyperparathyroidism due to a parathyroid adenoma, pheochromocytoma (MEN2)
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the 3 "P's" - pituitary, pancreatic and parathyroid tumors (MEN1)
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melanoma and pancreatic cancer (hereditary melanoma)
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cerebellar spinal and ocular hemangioblastomas, renal cell carcinoma, endolymphatic sac tumors (hearing loss), pheochromocytoma, epidydimal/ renal/pancreatic cysts, pancreatic islet cell tumors (von Hippel-Lindau disease)
Individuals with these syndromes may not have all the defining tumors in the syndrome. However, each syndrome has its own recommended surveillance and medical management recommendations. Evaluation of affected or at risk patients is best performed in an established hereditary cancer clinic with expertise in this area. Generally, these clinics are consultative only, and refer patients back to their primary care physicians for recommended surveillance and medical management.
The Genetic Drift Newsletter is not copyrighted. Readers are free to duplicate all or parts of its contents. The Genetic Drift Newsletter is published semiannually by the Mountain States Genetics Network for associates & those interested in Human Genetics. In accordance with accepted publication standards, we request acknowledgement in print of any article reproduced in another publication. The views expressed in the newsletter do not necessarily reflect local, state, or federal policy. For additional information, contact Carol Clericuzio, M.D., Editor, Department of Pediatrics, The University of New Mexico, Albuquerque, NM, 87131
Genetic Cancer Syndromes
Table of Contents
Introduction
Identifying Patients at Risk
Breast/Ovarian Cancer
Colorectal Cancer
Other Familial Cancers
Web Links
Cancer Genetic Services
Current Research Studies
Glossary
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