Details of Disease

General Information of Disease (ID: DIS01PWX)

• Disease Name: Familial medullary thyroid carcinoma
• Synonyms: Mtc1; MTC; Fmtc; medullary thyroid carcinoma; thyroid carcinoma, familial medullary; hereditary medullary thyroid gland carcinoma; familial medullary thyroid carcinoma; hereditary thyroid medullary carcinoma; familial MTC
• Definition: An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome.
• Disease Hierarchy:
  DISHBL3K: Medullary thyroid gland carcinoma
  DISPQ4Y5: Multiple endocrine neoplasia type 2
  DIS01PWX: Familial medullary thyroid carcinoma
• Disease Identifiers:
  MONDO ID: MONDO_0007958
  MESH ID: C536911
  UMLS CUI: C1833921
  OMIM ID: 155240
  MedGen ID: 322311
  Orphanet ID: 99361

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 9 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AOC1	TTM3B5R	Limited	Altered Expression	[1]
ATRAID	TTFLIKM	Limited	Biomarker	[2]
NTRK1	TTTDVOJ	Limited	Biomarker	[3]
OSMR	TTAH0KM	Limited	Genetic Variation	[4]
ESR2	TTOM3J0	Supportive	Autosomal dominant	[5]
NTRK1	TTTDVOJ	Supportive	Autosomal dominant	[6]
RET	TTY0WT7	Supportive	Autosomal dominant	[6]
ESR2	TTOM3J0	Strong	GermlineCausalMutation	[5]
PRLR	TTBPXMA	Strong	Biomarker	[7]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GLS	DE3E0VT	Strong	Biomarker	[8]
MT1A	DE5ME8A	Strong	Biomarker	[3]

This Disease Is Related to 15 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DOCK11	OTFSTN6A	Limited	Genetic Variation	[9]
EEF1E1	OTRA6XOB	Limited	Biomarker	[2]
HNRNPA3	OT4O4NFS	Limited	Genetic Variation	[10]
KCNH4	OTHJ8WTU	Limited	Genetic Variation	[11]
KCNH8	OT3I5FLB	Limited	Genetic Variation	[11]
LAMTOR1	OTIBJBW9	Limited	Biomarker	[2]
MAFK	OTZJUE4P	Limited	Biomarker	[2]
NTM	OTHF0UQU	Limited	Biomarker	[12]
PSG5	OTHTU98X	Limited	Genetic Variation	[13]
RYK	OTZ3WWZH	Limited	Genetic Variation	[14]
SEC23A	OTBRNIJ3	Limited	Altered Expression	[15]
TPPP2	OTI3WA6X	Limited	Biomarker	[2]
ESR2	OTXNR2WQ	Supportive	Autosomal dominant	[5]
NTRK1	OTJORQAU	Supportive	Autosomal dominant	[6]
RET	OTLU040A	Supportive	Autosomal dominant	[6]

References

• [1] Levels of histaminase and L-DOPA decarboxylase activity in the transition from C-cell hyperplasia to familial medullary thyroid carcinoma.Cancer. 1979 Oct;44(4):1315-21. doi: 10.1002/1097-0142(197910)44:4<1315::aid-cncr2820440423>3.0.co;2-1.
• [2] Synergistic effect of oncogenic RET and loss of p18 on medullary thyroid carcinoma development.Cancer Res. 2008 Mar 1;68(5):1329-37. doi: 10.1158/0008-5472.CAN-07-5754.
• [3] Familial medullary thyroid cancer: clinical aspects and prognosis.Eur J Surg Oncol. 2005 May;31(4):415-9. doi: 10.1016/j.ejso.2004.11.002. Epub 2004 Dec 10.
• [4] RET mutation p.S891A in a Chinese family with familial medullary thyroid carcinoma and associated cutaneous amyloidosis binding OSMR variant p.G513D.Oncotarget. 2015 Oct 20;6(32):33993-4003. doi: 10.18632/oncotarget.4992.
• [5] Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression. Hum Mol Genet. 2016 May 1;25(9):1836-45. doi: 10.1093/hmg/ddw057. Epub 2016 Mar 3.
• [6] Mutation analysis reveals novel sequence variants in NTRK1 in sporadic human medullary thyroid carcinoma. J Clin Endocrinol Metab. 1999 Aug;84(8):2784-7. doi: 10.1210/jcem.84.8.5901.
• [7] Medullary thyroid carcinoma arises in the absence of prolactin signaling.Cancer Res. 2005 Sep 15;65(18):8497-503. doi: 10.1158/0008-5472.CAN-04-3937.
• [8] Mutation of RET codon 768 is associated with the FMTC phenotype.Clin Genet. 1997 Feb;51(2):81-5. doi: 10.1111/j.1399-0004.1997.tb02424.x.
• [9] A rapid method for DNA extraction from fine-needle aspiration biopsies of thyroid tumors, and subsequent RET mutation analysis.Cancer Detect Prev. 1998;22(6):544-8. doi: 10.1046/j.1525-1500.1998.00066.x.
• [10] A 1.5-megabase yeast artificial chromosome contig from human chromosome 10q11.2 connecting three genetic loci (RET, D10S94, and D10S102) closely linked to the MEN2A locus.Proc Natl Acad Sci U S A. 1993 Jan 15;90(2):492-6. doi: 10.1073/pnas.90.2.492.
• [11] Ras/ERK1/2-mediated STAT3 Ser727 phosphorylation by familial medullary thyroid carcinoma-associated RET mutants induces full activation of STAT3 and is required for c-fos promoter activation, cell mitogenicity, and transformation.J Biol Chem. 2007 Mar 2;282(9):6415-24. doi: 10.1074/jbc.M608952200. Epub 2007 Jan 5.
• [12] Differential detection of tuberculous and non-tuberculous mycobacteria by qPCR in lavage fluids of tuberculosis-suspicious white rhinoceros.PLoS One. 2018 Nov 28;13(11):e0207365. doi: 10.1371/journal.pone.0207365. eCollection 2018.
• [13] Prospective trial of unilateral surgery for nonhereditary medullary thyroid carcinoma in patients without germline RET mutations.World J Surg. 2002 Aug;26(8):1023-8. doi: 10.1007/s00268-002-6665-1. Epub 2002 May 21.
• [14] A potential pathogenetic mechanism for multiple endocrine neoplasia type 2 syndromes involves ret-induced impairment of terminal differentiation of neuroepithelial cells.Proc Natl Acad Sci U S A. 1996 Jul 23;93(15):7933-7. doi: 10.1073/pnas.93.15.7933.
• [15] MicroRNA-375/SEC23A as biomarkers of the in vitro efficacy of vandetanib.Oncotarget. 2016 May 24;7(21):30461-78. doi: 10.18632/oncotarget.8458.