HazardJB, HawkWA, CrileGJr. 1959. Medullary (solid) carcinoma of the thyroid; a clinicopathologic entity. J Clin Endocrinol Metab, 19:152–161.
2.
EngC, ClaytonD, SchuffeneckerI, LenoirG, CoteG, GagelRF, Ploos van AmstelHK, LipsCJM, NishishoI, TakaiSI, MarshDJ, RobinsonBG, Frank-RaueK, RaueF, XueF, NollWW, RomeiC, PaciniF, FinkM, NiederleB, ZedeniusJ, NordenskjöldM, KomminothP, HendyGN, GharibH, ThibodeauSN, LacroixA, FrillingA, PonderBAJ, MulliganLM. 1996. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. JAMA, 276:1575–1579.
3.
KloosRT, EngC, EvansDB, FrancisGL, GagelRF, GharibH, MoleyJF, PaciniF, RingelMD, SchlumbergerM, WellsSA. 2009. The American Thyroid Association Guidelines Task Force. Medullary Thyroid Cancer: Management Guidelines of the American Thyroid Association. Thyroid, 19:564–611.
4.
BorregoS, WrightFA, FernandezRM, WilliamsN, Lopez-AlonsoM, DavuluriR, AntiñoloG, EngC. 2003. A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma. Am J Hum Genet, 72:88–100.
5.
GimmO, NeubergDS, MarshDJ, DahiaPL, Hoang-VuC, RaueF, HinzeR, DralleH, EngC. 1999. Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation. Oncogene, 18:1369–1373.
6.
RuizA, AntinoloG, FernandezRM, EngC, MarcosI, BorregoS. 2001. Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population. Clin Endocrinol (Oxf ), 55:399–402.
7.
RobledoM, GilL, PollanM, CebrianA, RuizS, AzanedoM, BenitezJ, MenarguezJ, RojasJM. 2003. Polymorphisms G691S/S904S of RET as genetic modifiers of MEN 2A. Cancer Res, 63:1814–1817.
8.
EliseiR, CosciB, RomeiC, BotticiV, SculliM, LariR, BaraleR, PaciniF, PincheraA. 2004. RET exon 11 (G691S) polymorphism is significantly more frequent in sporadic medullary thyroid carcinoma than in the general population. J Clin Endocrinol Metab, 89:3579–3584.
9.
FernándezRM, PeciñaA, AntiñoloG, NavarroE, BorregoS. 2006. Analysis of RET polymorphisms and haplotypes in the context of sporadic medullary thyroid carcinoma. Thyroid, 16:411–417.
10.
FugazzolaL, MuzzaM, MianC, CordellaD, BarolloS, AlbertiL, CirelloV, DazziD, GirelliME, OpocherG, Beck-PeccozP, PersaniL. 2008. RET genotypes in sporadic medullary thyroid cancer: studies in a large Italian series. Clin Endocrinol (Oxf ), 69:418–425.
11.
GriseriP, SancandiM, PatroneG, BocciardiR, HofstraR, RavazzoloR, DevotoM, RomeoG, CeccheriniI. 2000. A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease. Eur J Hum Genet, 8:721–724.
12.
LantieriF, GriseriP, PuppoF, CampusR, MartuccielloM, RavazzoloR, DevotoM, CeccheriniI. 2006. Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles. Ann Hum Genet, 70:12–26.
13.
GriseriP, LantieriF, PuppoF, BachettiT, Di CucaM, RavazzoloR, CeccheriniI. 2007. A common variant located in the 3′UTR of the RET gene is associated with protection from Hirschsprung disease. Hum Mutat, 28:168–176.
