Incidence of medullary thyroid carcinoma and Hirschsprung disease based on the cosmos database.
Wehrli LA, Reppucci ML, Ketzer J, Dominguez-Muñoz A, Cooper EH, Peña A, Bischoff A, De La Torre L.
Pediatr Surg Int. 2023 Jul 7;39(1):227. doi: 10.1007/s00383-023-05511-0.
A primer on the genetics of medullary thyroid cancer.
Larouche V, Akirov A, Thomas CM, Krzyzanowska MK, Ezzat S.
Curr Oncol. 2019 Dec;26(6):389-394. doi: 10.3747/co.26.5553. Epub 2019 Dec 1.
Hereditary Medullary Thyroid Cancer Genotype-Phenotype Correlation.
Frank-Raue K, Raue F.
Recent Results Cancer Res. 2015;204:139-56. doi: 10.1007/978-3-319-22542-5_6.
Hereditary Medullary Thyroid Cancer: Genotype-Phenotype Correlation.
Frank-Raue K, Raue F.
Recent Results Cancer Res. 2025;223:183-209. doi: 10.1007/978-3-031-80396-3_7.
Thyroid cancer and co-occurring RET mutations in Hirschsprung disease.
Virtanen VB, Pukkala E, Kivisaari R, Salo PP, Koivusalo A, Arola J, Miettinen PJ, Rintala RJ, Perola M, Pakarinen MP.
Endocr Relat Cancer. 2013 Jul 12;20(4):595-602. doi: 10.1530/ERC-13-0082. Print 2013 Aug.
Long-term outcomes and quality of life in patients with Hirschsprung disease.
Pakarinen MP, Mutanen A.
World J Pediatr Surg. 2024 Oct 9;7(3):e000859. doi: 10.1136/wjps-2024-000859. eCollection 2024.
RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family.
Quedas EP, Longuini VC, Sekiya T, Coutinho FL, Toledo SP, Tannuri U, Toledo RA.
Clinics (Sao Paulo). 2012;67 Suppl 1(Suppl 1):57-61. doi: 10.6061/clinics/2012(sup01)11.
Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene.
Vaclavikova E, Kavalcova L, Skaba R, Dvorakova S, Macokova P, Rouskova B, Bendlova B.
Pediatr Surg Int. 2012 Feb;28(2):123-8. doi: 10.1007/s00383-011-2993-2.
Multiple Endocrine Neoplasias Type 2.
Yasir M, Mulji NJ, Kasi A.
2023 Aug 14. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
Medullary Thyroid Carcinoma and Associated Endocrinopathies in Slovenia from 1995 to 2021.
Milicevic S, Krajc M, Blatnik A, Peric B.
Life (Basel). 2022 Jul 21;12(7):1091. doi: 10.3390/life12071091.
