Journal
INTERNATIONAL JOURNAL OF SURGICAL PATHOLOGY
Volume 18, Issue 4, Pages 233-242Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/1066896910366442
Keywords
thyroid; cancer; familial; follicular cell; susceptibility; genetic loci
Funding
- Portuguese Foundation for Science and Technology [SFRH/BD30041/2006, PTDC/SAU-OBD/101242/2008]
- David and Esther Bernstein Halpern Fund
- Fundação para a Ciência e a Tecnologia [PTDC/SAU-OBD/101242/2008] Funding Source: FCT
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The follicular cell-derived thyroid cancers (termed nonmedullary thyroid cancers-NMTCs) occur mostly sporadically, but intriguingly, NMTC has the highest familial risk among all cancer sites. This epidemiological observation is strengthened by the clinical occurrence of NMTC in familial aggregation (FNMTC) and by the detection of chromosomal loci in linkage with the disease phenotype. FNMTC loci have been proposed at 14q, 1q21, 19p13.2, 2q21, 8p23, 8q24, 1q21, and 6q22, but to date, no causative mutations have been linked to FNMTCs. In this review, the authors focus on the clinical, morphological, and molecular aspects that characterize familial tumors. Some morphological patterns may alert for a familial disease. FNMTCs share several of the somatic molecular changes associated with sporadic tumors. New genes affected by somatic changes have been disclosed within regions harboring FNMTC loci.
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