High Penetrance of Pheochromocytoma Associated with the Novel C634Y/Y791F Double Germline Mutation in theRETProtooncogene-Reference-Cited by-同舟云学术

High Penetrance of Pheochromocytoma Associated with the Novel C634Y/Y791F Double Germline Mutation in theRETProtooncogene

Published:2010-03-01 Issue:3 Volume:95 Page:1318-1327
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Toledo Rodrigo A.¹,Wagner Simona M.²,Coutinho Flavia L.¹,Lourenço Delmar M.¹,Azevedo Juliana A.¹,Longuini Viviane C.¹,Reis Mariana T. A.³,Siqueira Sheila A. C.⁴,Lucon Antonio M.⁵,Tavares Marcos R.⁶,Fragoso Maria C. B. V.⁷,Pereira Adelaide A.⁷,Dahia Patricia L. M.⁸,Mulligan Lois M.²,Toledo Sergio P. A.¹

Affiliation:

1. Endocrine Genetics Unit (Laboratório de Investigação Médica # 25/LIM-25) (R.A.T., F.L.C., D.M.L., J.A.A., V.C.L., S.P.A.T.), Hospital das Clínicas, University of São Paulo Medical School, 012406-903 São Paulo, Brazil

2. Division of Cancer Biology and Genetics (S.M.W., L.M.M.) , Cancer Research Institute, Queen’s University, Kingston, Ontario, Canada 7L 3N6

3. Endocrinology Section of the Santa Marcelina Hospital (M.T.A.R.), 08270-070 São Paulo, Brazil

4. Pathology Division (S.A.C.S.), Hospital das Clínicas, University of São Paulo Medical School, 012406-903 São Paulo, Brazil

5. Urology (A.M.L.), Hospital das Clínicas, University of São Paulo Medical School, 012406-903 São Paulo, Brazil

6. Head and Neck Surgery (M.R.T.), Pathology Division (S.A.C.S.), Hospital das Clínicas, University of São Paulo Medical School, 012406-903 São Paulo, Brazil

7. Departments of Endocrinology (M.C.B.V.F., A.A.P.), Hospital das Clínicas, University of São Paulo Medical School, 012406-903 São Paulo, Brazil

8. Division of Hematology and Molecular Oncology (P.L.M.D.), Department of Medicine, University of Texas Health Science Center at San Antonio, San Antonio, Texas 78229

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/95/3/1318/9067809/jcem1318.pdf

Reference36 articles.

1. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A;Mulligan;Nature,1993

2. The clinical outcome of prospective screening for multiple endocrine neoplasia type 2a: an 18-year experience;Gagel;N Engl J Med,1988

3. Guidelines for diagnosis and therapy of MEN type 1 and type 2;Brandi;J Clin Endocrinol Metab,2001

4. Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations;Margraf;Hum Mutat,2009

5. Germline variants within RET: clinical utility or scientific playtoy?;Weber;J Clin Endocrinol Metab,2005

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