ArticlesHereditary cancers in children and ethical and psychosocial implications*
Section snippets
Basic concepts of hereditary cancer
Up to 10% of various cancers occur due to a mutation (alteration) in one's germline, which may be passed on to subsequent generations via the egg or sperm.
Retinoblastoma
Retinoblastoma (Rb), the most common ocular tumor of infancy and early childhood with an incidence of 1 in 20,000 live births, or about 200 patients per year in the United States, accounts for 1% of all pediatric tumors (Offit, 1998). Tumors arise from retinal cells that have functional loss of both copies of the RB1 gene. More than 90% of patients present before age 5 and are often detected on eye examination by the presence of leukokoria (white eye), which masks the normal red reflex.
Multiple endocrine neoplasia, type 2
MEN type 2 (A and B) is a dominantly inherited medullary thyroid cancer (MTC) syndrome caused by germline mutations in the RET proto-oncogene, primarily in exons 10 and 11 of the gene (97% of kindreds) (Lips et al., 1994). DNA analysis of the RET gene is now standard medical care. RET testing identifies most mutation carriers and is relatively inexpensive ($200-$400, with results in 2 weeks or less). Prophylactic thyroidectomy can be lifesaving because the risk of thyroid cancer in carriers
Familial adenomatous polyposis
Familial adenomatous polyposis (FAP) is a rare AD highly penetrant inherited form of colon cancer characterized by the presence of hundreds to thousands of adenomatous polyps blanketing the colon and rectum (Powell et al., 1993). Polyps generally occur in the second and third decade of life but may be seen as early as age 12. Unless surgically excised, cancer inevitably develops, usually within a decade of the onset of polyps. FAP affects about 1 in 8,000 individuals in the United States. This
Conclusion
New scientific discoveries are changing how cancers can be prevented, diagnosed, and treated. The potential use of genetic testing provides hope for ameliorating the morbidity and mortality rates of cancer. Responsible integration of this technology into clinical practice requires knowledge of genetics and the ethical and psychosocial concerns related to genetic testing. Nurses who care for children and families who have, or are at-risk for, hereditary cancer are in a prime position to advocate
Acknowledgements
The authors would like to thank Jeffrey N. Weitzel, MD, for his helpful comments in reviewing this article.
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Address reprint requests to Deborah J. MacDonald, RN, MS, CS, Department of Clinical Cancer Genetics, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010-3000. E-mail: [email protected]