Y791F RET mutation and early onset of medullary thyroid carcinoma in a Brazilian kindred: Evaluation of phenotype-modifying effect of germline variants [2]

Clinical Endocrinology

Volumn 67, Issue 5, 2007, Pages 806-808

  Tamanaha, Rosana ^a   Camacho, Cléber P ^a   Ikejiri, Elza S ^a   Maciel, Rui M B ^a   Cerutti, Janete M ^a  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITONIN; CALCIUM; CATECHOLAMINE; METADRENALIN; PARATHYROID HORMONE; VANILMANDELIC ACID;

ADULT; ASPIRATION BIOPSY; BRAZIL; CALCITONIN BLOOD LEVEL; CALCIUM BLOOD LEVEL; FEMALE; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HISTOLOGY; HUMAN; HUMAN TISSUE; HYPERPARATHYROIDISM; LETTER; MALE; NECK DISSECTION; PHENOTYPE; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; SCREENING TEST; THYROID MEDULLARY CARCINOMA; THYROIDECTOMY; Y791F RET GENE;

ADULT; AGE OF ONSET; BRAZIL; CARCINOMA, MEDULLARY; CHILD; CHILD, PRESCHOOL; FEMALE; GERM-LINE MUTATION; HUMANS; MALE; PEDIGREE; PHENOTYPE; PROTO-ONCOGENE PROTEINS C-RET; THYROID NEOPLASMS;

EID: 35448953567     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2007.02964.x     Document Type: Letter

References (5)

1. Machens, A., Niccoli-Sire, P., Hoegel, J., Frank-Raue, K., van Vroonhoven, T.J., Roeher, H.D., Wahl, R.A., Lamesch, P., Raue, F., Conte-Devolx, B. Dralle, H. (2003) Early malignant progression of hereditary medullary thyroid cancer. New England Journal of Medicine, 349, 1517 1525.
2. Weber, F. Eng, C. (2005) Editorial: germline variants within RET - clinical utility or scientific playtoy? Journal of Clinical Endocrinology and Metabolism, 90, 6334 6336.
3. Da Silva, A.M., Maciel, R.M., Da Silva, M.R., Toledo, S.R., De Carvalho, M.B. Cerutti, J.M. (2003) A novel germ-line point mutation in RET exon 8 (Gly (533) Cys) in a large kindred with familial medullary thyroid carcinoma. Journal of Clinical Endocrinology and Metabolism, 88, 5438 5443.
4. Baumgartner-Parzer, S.M., Lang, R., Wagner, L., Heinze, G., Niederle, B., Kaserer, K., Waldhausl, W. Vierhapper, H. (2005) Polymorphisms in exon 13 and intron 14 of the RET protooncogene: genetic modifiers of medullary thyroid carcinoma? Journal of Clinical Endocrinology and Metabolism, 90, 6232 6236.
5. Gimm, O., Ukkat, J., Niederle, B.E., Weber, T., Thanh, P.N., Brauckhoff, M., Niederle, B. Dralle, H. (2004) Timing and extent of surgery in patients with familial medullary thyroid carcinoma/multiple endocrine neoplasia 2A-related RET mutations not affecting codon 634. World Journal of Surgery, 28, 1312 1316.