[Hereditary endocrine tumour diseases].
METHODS
The paper reviews inheritable endocrine tumour syndromes based on recent literature and the experience of the authors.


CONCLUSIONS
A number of inheritable endocrine tumour syndromes are caused by mutations in proto-oncogenes or tumour suppressor genes. These include multiple endocrine neoplasia (MEN), familial non-MEN neoplasia, Von Hippel-Lindau's disease and familial medullary thyroid carcinoma, pheochromocytoma and paraganglioma. These conditions are rare, but since inheritance is dominant with a near-complete penetrance, a number of carriers with a high risk of developing tumours are regularly found in the families of affected individuals. Identification of carriers with a high risk of developing tumours gives the opportunity to cure disease manifestations at an early stage and to avoid life-threatening complications. Family members who are not carriers can be excluded from follow up. DNA analyses of the most common disease genes are now performed in genetic laboratories in Norway.
Husebye
Eystein S
ES
Endokrinologisk seksjon, Medisinsk avdeling, Haukeland Universitetssjukehus, 5021 Bergen. eystein.husebye@helse-bergen.no
Varhaug
Jan Erik
JE
Heimdal
Ketil
K
D000310:Adrenal Gland Neoplasms / Q000235:genetics*; D018276:Carcinoma, Medullary / Q000235:genetics; D004252:DNA Mutational Analysis; D004701:Endocrine Gland Neoplasms / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009377:Multiple Endocrine Neoplasia / Q000235:genetics*; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000235:genetics; D010235:Paraganglioma / Q000235:genetics; D010673:Pheochromocytoma / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics; D006623:von Hippel-Lindau Disease / Q000235:genetics*