Multiple Endocrine Neoplasia Type 2a
Last Posted: May 09, 2019
- Clinical utility of genetic diagnosis for sporadic and hereditary medullary thyroid carcinoma.
Elisei Rossella et al. Annales d'endocrinologie 2019 Apr
- CLINGEN Actionability Report for Multiple Endocrine Neoplasia IIA, Familial Medullary Thyroid Cancer - RET
ClinGen Actionability Working Group
- Is new American Thyroid Association risk classification for hereditary medullary thyroid carcinoma applicable to Chinese patients? A single-center study.
Zhang Xiwei et al. Chinese journal of cancer research = Chung-kuo yen cheng yen chiu 2017 Jun 29(3) 223-230
- The RET E616Q Variant is a Gain of Function Mutation Present in a Family with Features of Multiple Endocrine Neoplasia 2A.
Grey William, et al. Endocrine pathology 2016 10
- A Nationwide study of multiple endocrine neoplasia type 2A in Norway. Predictive avd prognostic factors for the clinical course of medullary thyroid carcinoma.
Opsahl Else Marie, et al. Thyroid : official journal of the American Thyroid Association 2016 7
- Clinical significance of RET mutation screening in a pedigree of multiple endocrine neoplasia type 2A.
Ying Rongbiao, et al. Molecular medicine reports 2016 6
- Presence of the RET Cys634Tyr mutation and Gly691Ser functional polymorphism in Iranian families with multiple endocrine neoplasia type 2A.
Aghdam Maryam Nasiri, et al. Hormones (Athens, Greece) 2016 1
- Therapeutic Effectiveness of Screening for Multiple Endocrine Neoplasia Type 2A.
Machens Andreas et al. The Journal of clinical endocrinology and metabolism 2015 Jul 100(7) 2539-45
- Screening of RET gene mutations in Chinese patients with medullary thyroid carcinoma and their relatives.
Wang Junyi, et al. Familial cancer 2015 8
- Exome sequencing reveals mutant genes with low penetrance involved in MEN2A-associated tumorigenesis.
Cai Jie, et al. Endocrine-related cancer 2015 2 (1) 23-33
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.