Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Familial medullary thyroid cancer

Familial medullary thyroid cancer derives from medullary, parafollicular cells. It is an autosomal dominant disorder caused by mutations of the RET gene and chimeric gene fusions including NTRK1 gene.

Systematic

Thyroid cancer
Familial medullary thyroid cancer
NTRK1
RET
Non-medullary thyroid cancer

References:

1.

Farndon JR et al. (1986) Familial medullary thyroid carcinoma without associated endocrinopathies: a distinct clinical entity.

[^]
2.

Loré F et al. (2000) Unilateral renal agenesis in a family with medullary thyroid carcinoma.

[^]
3.

Cote GJ et al. (2003) Lessons learned from the management of a rare genetic cancer.

[^]
4.

Gimm O et al. (1999) Mutation analysis reveals novel sequence variants in NTRK1 in sporadic human medullary thyroid carcinoma.

[^]
5.

Lairmore TC et al. (1991) Familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2B map to the same region of chromosome 10 as multiple endocrine neoplasia type 2A.

[^]
6.

Ferrer JP et al. (1991) Primary localized cutaneous amyloidosis and familial medullary thyroid carcinoma.

[^]
7.

Narod SA et al. (1989) Linkage analysis of hereditary thyroid carcinoma with and without pheochromocytoma.

[^]
8.

Loré F et al. (2001) Multiple endocrine neoplasia type 2 syndromes may be associated with renal malformations.

[^]
9.

Maio M et al. (2003) Analysis of cancer/testis antigens in sporadic medullary thyroid carcinoma: expression and humoral response to NY-ESO-1.

[^]
10.

Marsh DJ et al. (2003) Genome-wide copy number imbalances identified in familial and sporadic medullary thyroid carcinoma.

[^]
11.

Machens A et al. (2003) Early malignant progression of hereditary medullary thyroid cancer.

[^]
12.

Abu-Amero KK et al. (2006) Association of mitochondrial DNA transversion mutations with familial medullary thyroid carcinoma/multiple endocrine neoplasia type 2 syndrome.

[^]
13.

OMIM.ORG article

Omim 155240 [^]
14.

Wikipedia article

Wikipedia EN (Medullary_thyroid_cancer) [^]
Update: April 29, 2019