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
• Update on multiple endocrine neoplasia Type 1 and 2.
  Al-Salameh Abdallah et al. Presse medicale (Paris, France : 1983) 2018 Jun
• Secondary findings from next-generation sequencing: what does actionable in childhood really mean?
  Richer Julie et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun
• [Molecular Targeted Therapies for Hereditary Cancer Syndrome].
  Shimodaira Hideki et al. Gan to kagaku ryoho. Cancer & chemotherapy 2018 Apr 45(4) 587-592
• 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
• 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
• The development of rapid and accurate screening test for RET hotspot somatic and germline mutations in MEN2 syndromes.
  Zupan Andrej et al. Exp. Mol. Pathol. 2015 Aug 27.
• RET gene abnormalities and thyroid disease: who should be screened and when.
  
• Thyroid Cancer—Patient Version
  
• Multiple endocrine neoplasia type 1
  From NCATS Genetic and Rare Diseases Information Center
• Multiple endocrine neoplasia type 2
  From NCATS Genetic and Rare Diseases Information Center
• Multiple endocrine neoplasia type 2A
  From NCATS Genetic and Rare Diseases Information Center
• Multiple endocrine neoplasia type 2B
  From NCATS Genetic and Rare Diseases Information Center