A RET mutation with decreased penetrance in the family of a patient with a "sporadic" pheochromocytoma

Endocrine

Volumn 28, Issue 2, 2005, Pages 193-198

  Arum, Seth M ^a   Dahia, Patricia L M ^b   Schneider, Katherine ^b   Braverman, Lewis E ^a,c  

^a BOSTON UNIVERSITY MEDICAL CENTER   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c NONE   (United States)

Author keywords

MEN2; Pheochromocytoma genetics; RET mutation

Indexed keywords

PROTEIN RET;

ARTICLE; CELL HYPERPLASIA; DISEASE COURSE; DISEASE PREDISPOSITION; GENE MUTATION; HUMAN; PARAGANGLIOMA; PENETRANCE; PHENOTYPE; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; PROPHYLAXIS; PROTO ONCOGENE; SCREENING; THYROID MEDULLARY CARCINOMA; THYROIDECTOMY;

EID: 29844458027     PISSN: 1355008X     EISSN: 15590100     Source Type: Journal    
DOI: 10.1385/ENDO:28:2:193     Document Type: Article

References (24)

1. Lenders, J. W. M., Pacak, K., Walther, M. M., et al. (2002). JAMA 287, 1427-1434.
2. Crossey, P. A., Eng, C., Ginalska-Malinowska, M., et al. (1995). J. Med. Genet. 32, 885-886.
3. Astuti, D., Latif, F., Dallol, A., et al. (2001). Am. J. Hum. Genet. 69, 49-54.
4. Astuti, D., Douglas, F., Lennard, T. W. J., et al. (2001). Lancet 357, 1181-1182.
5. Neumann, H. P. H., Bausch, B., McWhinney, S. R., et al. (2002). N. Engl. J. Med. 346, 1459-1466.
6. Bryant, J., Farmer, J., Kessler, L. J., Townsend, R. R., and Nathanson, K. L. (2003). J. Natl. Cancer Inst. 95, 1196-1204.
7. Young, W. F. Jr. and Kaplan, N. M. (2004). Up to Date; version 13.1.
8. Mulligan, L. M., Kwok, J. B. J., Healey, C. S., et al. (1993). Nature 363, 458-460.
9. Berndt, I., Reuter, M., Saller, B., et al. (1998). J. Clin. Endocrinol. Metab. 83, 770-774.
10. Machens, A., Gimm, O., Hinze, R., Höppner, W., Boehm, B. O., and Dralle, H. (2001). J. Clin. Endocrinol. Metab. 86, 1104-1109.
11. Machens, A., Niccoli-Sire, P., Hoegel, J., et al. (2003). N. Engl. J. Med. 349, 1517-1525.
12. Bolino, A., Schuffenecker, I., Luo, Y., et al. (1995). Oncogene 10, 2415-2419.
13. Fitze, G., Schierz, M., Bredow, J., Saeger, H. D., Roesner, D., and Schackert, H. K. (2002). Ann. Surg. 236, 570-575.
14. Brandi, M. L., Gagel, R. F., Angeli, A., et al. (2001). J. Clin. Endocrinol. Metab. 86, 5658-5671.
15. Wells, S. A. Jr., Baylin, S. B., Linehan, W. M., Farrell, R. F., Cox, E. B., and Cooper, C. W. (1978). Ann. Surg. 188, 139-141.
16. Machens, A., Ukkat, J., Brauckhoff, M., Gimm, O., and Dralle, H. (2005). J. Intern. Med. 257, 50-59.
17. Gimm, O., Niederle, B. E., Weber, T., et al. (2002). Surgery 132, 952-959.
18. Brauckhoff, M., Gimm, O., Hinze, R., Ukkat, J., Brauckhoff, K., and Dralle, H. (2002). Thyroid 12, 557-561.
19. Colombo-Benkmann, M., Brämswig, J., Höppner, W., et al. (2002). World J. Surg. 26, 1286-1290.
20. Machens, A., Holzhausen, H.-J., Thanh, P. N., and Dralle, H. (2003). Surgery 134, 425-431.
21. Vierhapper, H., Bieglmayer, C., Heinze, G., and Baumgartner-Parzer, S. (2004). Thyroid 14, 580-583.
22. Jindřichová, Š., Včelák, J., Vlček, P., Neradilová, M., Němec, J., and Bendlová, B. (2004). J. Endocrinol. 183, 257-265.
23. Neumann, H. P. H., Reincke, M., Eng, C., and Conlin, P. R. (2001). N. Engl. J. Med. 345, 547-548 (Correspondence).
24. Aguiar, R. C., Cax, G., Pomeroy, S. L., and Dahia, P. L. M. (2001). J. Clin. Endocrinol. Metab. 86, 2890-2894.