Journal of Clinical Oncology, Vol 17, Issue 1
(January), 1999: 380
© 1999 American Society for Clinical Oncology
RET Proto-Oncogene in the Development of Human Cancer
Charis Eng
From the Translational Research Laboratory, Department of Adult Oncology, Charles A. Dana Human Cancer Genetics Unit, Dana-Farber Cancer Institute; Department of Medicine, Harvard Medical School, Boston, MA; Cancer Research Campaign Human Cancer Genetics Research Group, University of Cambridge, Cambridge, United Kingdom; and Human Cancer Genetics Program, Ohio State University, Columbus, OH.
ABSTRACT
The RET proto-oncogene, located on chromosome subband 10q11.2, encodes a receptor tyrosine kinase expressed in tissues and tumors derived from neural crest. Germline (present in every cell of the body) mutations in RET cause multiple endocrine neoplasia type 2 (MEN 2), an inherited cancer syndrome characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (PC), and hyperparathyroidism (HPT). This knowledge has allowed molecular diagnosis and presymptomatic DNA-based testing to become possible. RET testing is considered the standard of care in MEN 2 families because clinical decisions are made based on the results of such gene testing. There appears to be a correlation between specific RET mutation type and organ-specific tumor development. Such knowledge might be useful in tailoring targeted surveillance in the near future. Somatic (in the tumor only) RET mutations have been found in a proportion of sporadic MTCs and PCs. Whether the presence of somatic RET mutation is associated with a poor prognosis is currently being investigated as another tool for molecular medicine.
NOTES
Address correspondence to Charis Eng, MD, PhD, Human Cancer Genetics Program, Ohio State University Comprehensive Cancer Center, 420 W 12th Ave, 690C MRF, Columbus, OH 43210; Email eng-1@medctr.osu.edu.
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