Pathogenicity of dna variants and double mutations in multiple endocrine neoplasia type 2 and Von Hippel-Lindau syndrome

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 1, 2010, Pages 308-313

  Erlic, Zoran ^a   Hoffmann, Michael M ^a   Sullivan, Maren ^a   Franke, Gerlind ^a   Peczkowska, Mariola ^b   Harsch, Igor ^c   Schott, Matthias ^d   Gabbert, Helmut E ^d   Valimäki, Matti ^e   Preuss, Simon F ^f   Hasse Lazar, Kornelia ^g   Waligorski, Dariusz ^h   Robledo, Mercedes ^i,j   Januszewicz, Andrzej ^a   Eng, Charis ^k   Neumann, Hartmut P H ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b INSTITUTE OF CARDIOLOGY   (Poland)

^c UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^d HEINRICH HEINE UNIVERSITY   (Germany)

^e HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^f UNIVERSITY OF COLOGNE   (Germany)

^g INSTITUTE OF ONCOLOGY   (Poland)

^h Holycross Cancer Center   (Poland)

ⁱ Centro Nacional de Investigaciones Oncológicas   (Spain)

^j INSTITUTO DE SALUD CARLOS III   (Spain)

^k TAUSSIG CANCER INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PROTEIN RET;

ADULT; ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIPLE ENDOCRINE NEOPLASIA; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2; NUCLEOTIDE SEQUENCE; PARAGANGLIOMA; PATHOGENICITY; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; PROTEIN FUNCTION; THYROID MEDULLARY CARCINOMA; THYROIDECTOMY; VON HIPPEL LINDAU DISEASE;

EID: 75149174167     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-1728     Document Type: Article

References (21)

1. Kloos RT, Eng C, Evans DB, Francis GL, Gagel RF, Gharib H, Moley JF, Pacini F, Ringel MD, Schlumberger M, Wells Jr SA 2009 Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid 19:565-612
2. Erlic Z, Neumann HP 2009 Familial pheochromocytoma. Hormones 8:29-38
3. Hoffman MA, Ohh M, Yang H, Klco JM, Ivan M, Kaelin Jr WG 2001 von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. Hum Mol Genet 10:1019-1027
4. Clifford SC, Cockman ME, Smallwood AC, Mole DR, Woodward ER, Maxwell PH, Ratcliffe PJ, Maher ER 2001 Contrasting effects on HIF-1α regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease.Hum Mol Genet 10:1029-1038
5. Vierhapper H, Bieglmayer C, Heinze G, Baumgartner-Parzer S 2004 Frequency of RET proto-oncogene mutations in patients with normal and with moderately elevated pentagastrin-stimulated serum concentrations of calcitonin. Thyroid 14:580-583
6. Wiench M, Wygoda Z, Gubala E, Wloch J, Lisowska K, Krassowski J, Scieglinska D, Fiszer-Kierzkowska A, Lange D, Kula D, Zeman M, Roskosz J, Kukulska A, Krawczyk Z, Jarzab B 2001 Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients. J Clin Oncol 19:1374-1380
7. Seri M, Yin L, Barone V, Bolino A, Celli I, Bocciardi R, Pasini B, Ceccherini I, Lerone M, Kristoffersson U, Larsson LT, Casasa JM, Cass DT, Abramowicz MJ, Vanderwinden JM, Kravcenkiene I, Baric I, Silengo M, Martucciello G, Romeo G 1997 Frequency of RET mutations in long- and short-segment Hirschsprung disease. Hum Mutat 9:243-249
8. Neumann HP, Eng C, Mulligan LM, Glavac D, Zäuner I, Ponder BA, Crossey PA, Maher ER, Brauch H 1995 Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. JAMA 274: 1149-1151
9. Frank-Raue K, Heimbach C, Rondot S, Usadel KH, Meng W, Varma C, Fuchs-Hammoser R, Höppner W, Schulze E, Raue F 2003 [Hereditary medullary thyroid carcinoma: genotype-phenotype characterization]. Dtsch Med Wochenschr 128:1998-2002 (German)
10. Gimm O, Niederle BE, Weber T, Bockhorn M, Ukkat J, Brauckhoff M, Thanh PN, Frilling A, Klar E, Niederle B, Dralle H 2002 RET proto-oncogene mutations affecting codon 790/791: a mild form of multiple endocrine neoplasia type 2A syndrome? Surgery 132:952-959; discussion 959
11. Brauckhoff M, Gimm O, Hinze R, Ukkat J, Brauckhoff K, Dralle H 2002 Papillary thyroid carcinoma in patients with RET proto-oncogene germline mutation. Thyroid 12:557-561
12. Frank-Raue K, Buhr H, Dralle H, Klar E, Senninger N, Weber T, Rondot S, Höppner W, Raue F 2006 Long-term outcome in 46 gene carriers of hereditary medullary thyroid carcinoma after prophylactic thyroidectomy: impact of individual RET genotype. Eur J Endocrinol 155:229-236
13. Colombo-Benkmann M, Brämswig J, Höppner W, Gellner R, Hengst K, Böcker W, Senninger N 2002 Surgical strategy in a kindred with a rare RET protooncogene mutation of variable penetrance with regard to multiple endocrine neoplasia. World J Surg 26:1286-1290
14. Diaz-Cano SJ, de Miguel M, Blanes A, Tashjian R, Wolfe HJ 2001 Germline RET 634 mutation positive MEN 2A-related C-cell hyperplasias have genetic features consistent with intraepithelial neoplasia. J Clin Endocrinol Metab 86:3948-3957
15. Machens A, Niccoli-Sire P, Hoegel J, Frank-Raue K, van Vroonhoven TJ, Roeher HD, Wahl RA, Lamesch P, Raue F, Conte-Devolx B, Dralle H 2003 Early malignant progression of hereditary medullary thyroid cancer. N Engl J Med 349:1517-1525
16. Gibson WC, Peng TC, Croker BP 1981 C-cell nodules in adult human thyroid. A common autopsy finding. Am J Clin Pathol 75:347-350
17. O'Toole K, Fenoglio-Preiser C, Pushparaj N 1985 Endocrine changes associated with the human aging process. III. Effect of age on the number of calcitonin immunoreactive cells in the thyroid gland. Hum Pathol 16:991-1000
18. Scopsi L, Di Palma S, Ferrari C, Holst JJ, Rehfeld JF, Rilke F 1991 C-cell hyperplasia accompanying thyroid diseases other than medullary carcinoma: an immunocytochemical study by means of antibodies to calcitonin and somatostatin. Mod Pathol 4:297-304
19. de Krijger RR 2007 Early and precursor lesions in endocrine pathology: innocent lambs or wolves in sheep's clothing? Pathobiology 74:277-278
20. Libbey NP, Nowakowski KJ, Tucci JR 1989 C-cell hyperplasia of the thyroid in a patient with goitrous hypothyroidism and Hashimoto's thyroiditis. Am J Surg Pathol 13:71-77
21. Albores-Saavedra J, Monforte H, Nadji M, Morales AR 1988 C-cell hyperplasia in thyroid tissue adjacent to follicular cell tumors. Hum Pathol 19:795-799