Genetic testing for thyroid and parathyroid tumors

• UCHINO Shinya

  Endocrine Surgery, Noguchi Thyroid Clinic and Hospital Foundation

Bibliographic Information

Other Title

• 甲状腺・副甲状腺腫瘍に対する遺伝学的検査

Abstract

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.

Journal

• The Journal of the Japanese Society of Clinical Cytology

  The Journal of the Japanese Society of Clinical Cytology 56 (6), 265-270, 2017

  The Japanese Society of Clinical Cytology

Keywords

• <i>RET</i> gene diagnosis
• <i>PTEN</i> gene diagnosis
• <i>APC</i> gene diagnosis
• <i>MEN1</i> gene diagnosis
• <i>CDC73</i> gene diagnosis

Details

• CRID: 1390282679671800320
• NII Article ID: 130006315366
• DOI: 10.5795/jjscc.56.265
• ISSN: 18827233
• ISSN: 03871193
• Web Site: https://www.jstage.jst.go.jp/article/jjscc/56/6/56_265/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/2018261766
• Text Lang: ja
• Data Source:
  • JaLC
  • Crossref
  • CiNii Articles
• Abstract License Flag: Disallowed