Forms and Documents
- An individual with a personal history and family history of tumors and features associated with Multiple Endocrine Neoplasia type 2 (MEN2) such as medullary thyroid cancer, hyperparathyroidism, pheochromocytoma, Hirschsprung disease and cutaneous lichen amyloidosis
- An individual with a personal and/ or family history of a medullary thyroid cancer
- An individual with a personal history suggestive of MEN2B which may include features such as marfanoid habitus, mucosal neuromas of the lips and tongue and ganglioneuromas of the intestine
- An individual with apparent non-syndromic Hirschsprung disease
- An unaffected individual with a family history suggestive of MEN2 (see above) when an affected individual is unavailable for his or her own genetic testing
- Capillary Sequencing
- Mulligan, L.M. et al., Genotype-phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium. J Intern Med. 238: 343-6, 1995.
- Elisei, R et al., RET genetic screening in patients with medullary thyroid cancer and their relatives: Experience with 807 individuals at one center. J Clin Endocrinol Metab 92(12)4725-4729, 2007.
- Heshmati HM, et al. Genetic testing in medullary thyroid carcinoma syndromes: mutation types and clinical significance. Mayo Clin Proc 72(5):430-436, 1997.
- Wiench M et al. Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients. J Clin Oncol 19(5):1374-1380, 2001.
- Shirahama S et al. Mutational analysis of the RET proto-oncogene in 71 Japanese patients with medullary thyroid carcinoma. J Hum Genet 43:101-106, 1998.
- Mulligan, L.M. et al., Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet. 6: 70-4, 1994.
- Eng, C. et al., Point mutation within the tyrosine kinase domain of the RET-proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumors. Hum Mol Genet. 3: 237-41, 1994.
- Gimm, O. et al., Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. J Clin Endocrinol Metab. 82: 3902-4, 1997.
- Yip, L. et al., Multiple Endocrine Neoplasia Type 2: Evaluation of the Genotype-Phenotype Relationship. Arch Surg. 138: 409-16, 2003.