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RET

Wednesday 12 November 2003

MIM.164761, Locus: 10q11.2

Pathology

- mutations in Hirschsprung disease
- mutations in MEN2A

  • RET634: association MENA-renal dysplasia (#12606135#)

- mutations in MEN2B
- mutations in familial medullary thryoid carcinoma (FMTC)
- mutations in unilateral renal agenesis (#11454140#)
- mutationsd in congenital central hypoventilation syndrome (CCHS) (MIM.209880) isolated or with total colonic aganglionosis

- fusion gene in papillary thyroid carcinomas (PTC)

  • RET/PTC1 (papillary thyroid carcinoma)
  • RET/PTC2 (papillary thyroid carcinoma)
  • RET/PTC3 (papillary thyroid carcinoma)
  • RET/PTC8 (papillary thyroid carcinoma)
  • RET/PCM1 (papillary thyroid carcinoma)
  • RET/RFG8 (papillary thyroid carcinoma)

RET/papillary thyroid cancer (PTC) is a marker for papillary thyroid carcinoma, but its specificity has been questioned because of the disputed identification of RET/PTC in Hashimoto’s thyroiditis (HT), oncocytic tumors, and other thyroid lesions.

Expression in tumors

- Expression levels of the ret proto-oncogene (RET), insulin-like growth factor 1 receptor (IGFR1), and insulin-like growth factor 2 (IFG2) correlate with poor metastasis-free survival, supporting a role for ERK/MAPK and PI3K/AKT pathways in clinically aggressive myxoid liposarcomas. (#19368956#)

See also

- RET-associated diseases
- Hirschsprung disease genes

RET GDNF NTRN SOX10 EDNRB EDN3 ECE1 ZFHX1B phox2b TCF4

Reviews

- Runeberg-Roos P, Saarma M. Neurotrophic factor receptor RET: structure, cell biology, and inherited diseases. Ann Med. 2007;39(8):572-80. PMID: #17934909#

- Plaza-Menacho I, Burzynski GM, de Groot JW, Eggen BJ, Hofstra RM. Current concepts in RET-related genetics, signaling and therapeutics.
Trends Genet. 2006 Nov;22(11):627-36. PMID: #16979782#

- Zbuk KM, Eng C. Cancer phenomics: RET and PTEN as illustrative model. Nat Rev Cancer. 2007 Jan;7(1):35-45. PMID: #17167516#

- Putzer BM, Drosten M. The RET proto-oncogene: a potential target for molecular cancer therapy. Trends Mol Med. 2004 Jul;10(7):351-7. PMID: #15242684#

- Lee DC, Chan KW, Chan SY. RET receptor tyrosine kinase isoforms in kidney function and disease. Oncogene. 2002 Aug 15;21(36):5582-92. PMID: #12165857#

- Related Articles, LinksNikiforov YE. RET/PTC rearrangement in thyroid tumors. Endocr Pathol. 2002 Spring;13(1):3-16. PMID: #12114746#

- Manie S, Santoro M, Fusco A, Billaud M. The RET receptor: function in development and dysfunction in congenital malformation. Trends Genet. 2001 Oct;17(10):580-9. PMID: #11585664#

- de Graaff E, Srinivas S, Kilkenny C, D’Agati V, Mankoo BS, Costantini F, Pachnis V. Differential activities of the RET tyrosine kinase receptor isoforms during mammalian embryogenesis. Genes Dev. 2001 Sep 15;15(18):2433-44. PMID: #11562352#

- Manie S, Santoro M, Fusco A, Billaud M. The RET receptor: function in development and dysfunction in congenital malformation. Trends Genet. 2001 Oct;17(10):580-9. PMID: #11585664#

References

- Rhoden KJ, Unger K, Salvatore G, Yilmaz Y, Vovk V, Chiappetta G, Qumsiyeh MB, Rothstein JL, Fusco A, Santoro M, Zitzelsberger H, Tallini G. RET/papillary thyroid cancer rearrangement in nonneoplastic thyrocytes: follicular cells of Hashimoto’s thyroiditis share low-level recombination events with a subset of papillary carcinoma. J Clin Endocrinol Metab. 2006 Jun;91(6):2414-23. PMID: #16595592#


- MIM.164761

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