Open AccessPresentation of a kindred with familial medullary thyroid carcinoma and Cys611Phe mutation of the RET proto-oncogene demonstrating low grade malignancy
Author(s) -
Heide Siggelkow,
Arnulf Melzer,
W. Nolte,
Karsten Krug,
Wolfgang Höppner,
M. Hüfner
Publication year - 2001
Publication title -
european journal of endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.897
H-Index - 148
eISSN - 1479-683X
pISSN - 0804-4643
DOI - 10.1530/eje.0.1440467
Subject(s) - medicine , ret proto oncogene , thyroidectomy , thyroid carcinoma , malignancy , germline mutation , multiple endocrine neoplasia , medullary carcinoma , multiple endocrine neoplasia type 2 , medullary thyroid cancer , oncology , pathology , gastroenterology , thyroid , mutation , genetics , biology , gene
Both multiple endocrine neoplasia type 2A (MEN 2A) and familial medullary thyroid carcinoma (FMTC) are caused by germline mutations of the RET proto-oncogene. A broad spectrum of malignancy within and between families has been described with no clear genotype-phenotype correlation due to a scarcity of available data of large kindreds.
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