TY - JOUR
T1 - Incidence and prevalence of multiple endocrine neoplasia 2B in Denmark
T2 - a nationwide study
AU - Mathiesen, Jes Sloth
AU - Kroustrup, Jens Peter
AU - Vestergaard, Peter
AU - Madsen, Mette
AU - Stochholm, Kirstine
AU - Poulsen, Per Løgstrup
AU - Krogh Rasmussen, Åse
AU - Feldt-Rasmussen, Ulla
AU - Schytte, Sten
AU - Pedersen, Henrik Baymler
AU - Hahn, Christoffer Holst
AU - Bentzen, Jens
AU - Gaustadnes, Mette
AU - Ørntoft, Torben Falck
AU - Hansen, Thomas van Overeem
AU - Nielsen, Finn Cilius
AU - Brixen, Kim
AU - Frederiksen, Anja Lisbeth
AU - Godballe, Christian
PY - 2017
Y1 - 2017
N2 - Extract: Multiple endocrine neoplasia 2B (MEN2B) is an autosomal dominant inherited cancer syndrome associating medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), ganglioneuromatosis of the aerodigestive tract and facial, ophthalmologic and skeletal abnormalities. MEN2B is caused by the M918T and A883F mutation of the REarranged during Transfection (RET) proto-oncogene in approximately 95% and <5% of cases, respectively. Only very few other mutations have been reported to cause MEN2B. In approximately 75% of MEN2B patients, mutations occur as de novo (Wells, et al. 2015) ...
AB - Extract: Multiple endocrine neoplasia 2B (MEN2B) is an autosomal dominant inherited cancer syndrome associating medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), ganglioneuromatosis of the aerodigestive tract and facial, ophthalmologic and skeletal abnormalities. MEN2B is caused by the M918T and A883F mutation of the REarranged during Transfection (RET) proto-oncogene in approximately 95% and <5% of cases, respectively. Only very few other mutations have been reported to cause MEN2B. In approximately 75% of MEN2B patients, mutations occur as de novo (Wells, et al. 2015) ...
KW - Journal Article
U2 - 10.1530/ERC-17-0122
DO - 10.1530/ERC-17-0122
M3 - Letter
C2 - 28438782
SN - 1351-0088
VL - 24
SP - L39-L42
JO - Endocrine - Related Cancer
JF - Endocrine - Related Cancer
IS - 7
ER -