Inherited non-medullary thyroid cancer

Gene: TG

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least one biallelic variant reported in two siblings with recurrent goiters and metastatic follicular thyroid carcinoma in one of these. Parents were monozygous.

Created: 10 Jul 2017, 10:41 a.m.

Red List (low evidence)

I am not aware of any publications demonstrating the presence of germline thyroglobulin mutations in FNMTC. Couple of SNPs have shown association,
Akdi A, Pérez G, Pastor S, Castell J, Biarnés J, Marcos R, Velázquez A.
Thyroid. 2011 May;21(5):519-25. doi: 10.1089/thy.2010.0384. Epub 2011 Apr 10.
PMID: 21476894

He H, Nagy R, Liyanarachchi S, Jiao H, Li W, Suster S, Kere J, de la Chapelle A.
Cancer Res. 2009 Jan 15;69(2):625-31.


Here, we don't know if the balletic changes were independently responsible for development of ca thyroid, so I wouldn't include.
Raef H, Al-Rijjal R, Al-Shehri S, Zou M, Al-Mana H, Baitei EY, Parhar RS, Al-Mohanna FA, Shi Y.
J Clin Endocrinol Metab. 2010 Mar;95(3):1000-6. doi: 10.1210/jc.2009-1823. Epub 2010 Jan 20.
PMID: 20089614

Created: 13 Jun 2017, 6:24 a.m.

Red List (low evidence)

Single case described.

Created: 9 Jun 2017, 8:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal