An unusual genotype-phenotype correlation in MEN 2 patients: Should screening for RET double germline mutations be performed to avoid misleading diagnosis and treatment?

Clinical Endocrinology

Volumn 79, Issue 4, 2013, Pages 591-592

  Cerutti, Janete M ^a   Maciel, Rui M B ^a  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

DNA EXTRACTION; EXON; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LETTER; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

FEMALE; HUMANS; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; PROTO-ONCOGENE PROTEINS C-RET;

EID: 84883557834     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/cen.12155     Document Type: Letter

References (4)

1. Conzo, G., Circelli, L., Pasquali, D., et al,. (2012) Lessons to be learned from the clinical management of a MEN 2A patient bearing a novel 634/640/700 mutation of the RET proto-oncogene. Clinical Endocrinology, 77, 934-936.
2. Tamanaha, R., Camacho, C.P., Ikejiri, E.S., et al,. (2007) Y791F RET mutation and early onset of medullary thyroid carcinoma in a Brazilian kindred: evaluation of phenotype-modifying effect of germline variants. Clinical Endocrinology, 67, 806-808.
3. Erlic, Z., Hoffmann, M.M., Sullivan, M., et al,. (2010) Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome. Journal of Clinical Endocrinology and Metabolism, 95, 308-313.
4. Toledo, R.A., Wagner, S.M., Coutinho, F.L., et al,. (2010) High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double germline mutation in the RET protooncogene. Journal of Clinical Endocrinology and Metabolism, 95, 1318-1327.