Multiple Endocrine Neoplasia Type 1
What's New
Last Posted: Oct 27, 2022
- Multiple Endocrine Neoplasia Type 2 (MEN2) and RET Specific Modifications of the ACMG/AMP Variant Classification Guidelines and Impact on the MEN2 RET Database.
Margraf Rebecca L et al. Human mutation 2022 - Genetics of Pancreatic Neuroendocrine Tumors.
Mohindroo Chirayu et al. Hematology/oncology clinics of North America 2022 - Cancer predisposing syndrome: a retrospective cohort analysis in a pediatric and multidisciplinary genetic cancer counseling unit.
Escudero Adela et al. International journal of clinical oncology 2022 - Outcome of Clinical Genetic Testing in Patients with Features Suggestive for Hereditary Predisposition to PTH-Mediated Hypercalcemia.
Khairi Shafaq et al. Hormones & cancer 2020 Aug - Inherited syndromes involving pancreatic neuroendocrine tumors.
Geurts Jennifer L et al. Journal of gastrointestinal oncology 2020 Jun 11(3) 559-566 - Health-related quality of life in patients with Multiple Endocrine Neoplasia type 1.
van Leeuwaarde Rachel S et al. Neuroendocrinology 2020 May - Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants.
Romanet Pauline et al. Human mutation 2019 40(6) 661-674 - Complicated Case Presentation: Management of Pancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1.
Mulvey Claire K et al. Pancreas 2017 46(3) 416-426 - Long-Term Outcomes and Aggressiveness of Hereditary Medullary Thyroid Carcinoma: 40 Years of Experience at One Center.
Raue Friedhelm et al. The Journal of clinical endocrinology and metabolism 2019 May - Clinical utility of genetic diagnosis for sporadic and hereditary medullary thyroid carcinoma.
Elisei Rossella et al. Annales d'endocrinologie 2019 Apr - Multiple endocrine neoplasia type 1: extensive analysis of a large database of Florentine patients.
Marini Francesca et al. Orphanet journal of rare diseases 2018 13(1) 205 - Patient quality of life and prognosis in multiple endocrine neoplasia type 2.
Grey Joanna et al. Endocrine-related cancer 2018 25(2) T69-T77 - Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study.
Castinetti Frederic et al. The lancet. Diabetes & endocrinology 2019 Jan - 'Quality in, quality out', a stepwise approach to EBM for rare diseases promoted by MEN1.
van Beek Dirk-Jan et al. Endocrine connections 2018 Sep - Local Coverage Determination (LCD): Biomarker Testing for Neuroendocrine Tumors/Neoplasms (L37851)
The U.S. Centers for Medicare & Medicaid Services - CLINGEN Actionability Report for Multiple Endocrine Neoplasia IIA, Familial Medullary Thyroid Cancer - RET
ClinGen Actionability Working Group - CLINGEN Actionability Report for Multiple Endocrine Neoplasia Type I - MEN1
ClinGen Actionability Working Group - CLINGEN Actionability Report for Multiple Endocrine Neoplasia Type IIB - RET
ClinGen Actionability Working Group - Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database.
Giusti Francesca et al. Endocrine 2017 Nov 58(2) 349-359 - Utilization of Genetic Testing for RET Mutations in Patients with Medullary Thyroid Carcinoma: a Single-Center Experience.
Parkhurst Emily et al. Journal of genetic counseling 2018 Jun
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch 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.
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