2017 Volume 56 Issue 6 Pages 265-270
Multiple endocrine neoplasia type 2 (MEN2) is autosomal dominantly inherited disease and characterized by medullary thyroid cancer, pheochromocytoma and primary hyperparathyroidism. The causative gene of MEN2 is RET oncogene and this gene testing is covered by health insurance in Japan. Genetic analyses of the PTEN gene for Cowden syndrome, APC gene for cribriform morula variant of papillary thyroid cancer associated with familial adenomatous polyposis, PRKAR1A gene for Carney complex and WRN gene for Werner syndrome are performed by research level. Multiple endocrine neoplasia type 1 (MEN1) is also autosomal dominantly inherited disease and characterized by primary hyperparathyroidism, gastroenteropancreatic neuroendocrine tumor and pituitary tumor. MEN1 gene testing is performed by advanced medical care in a few certified medical institution in Japan. CDC73 gene testing for hyperparathyroidism-jaw tumor syndrome is performed by research level.
