The genetic basis of nonsyndromic familial nonmedullary thyroid carcinoma (FNMTC) is still poorly understood, as the susceptibility genes identified so far only account for a small percentage of the genetic burden. Recently, germline mutations in DNA repair-related genes have been reported in cases with thyroid cancer. In order to clarify the genetic basis of FNMTC, 94 genes involved in hereditary cancer predisposition, including DNA repair genes, were analyzed in 48 probands from FNMTC families, through targeted next-generation sequencing (NGS).
View Article and Find Full Text PDFBackground: The number of skin cancer cases and related deaths continues to increase worldwide, including in Portugal. The lack of efficient health care leaves the southern Portuguese population at risk of presenting skin lesions at later stages. An initiative for skin cancer screening and medical care follow-up was created by the nonprofit organization Liga Portuguesa Contra o Cancro - Núcleo Regional do Sul (LPCC-NRS).
View Article and Find Full Text PDFPurpose: Radioiodine (RAI) therapy remains the gold-standard approach for distant metastatic differentiated thyroid cancer (TC). The main objective of our work was to identify the clinical and molecular markers that may help to predict RAI avidity and RAI therapy response of metastatic lesions in a cohort of papillary thyroid cancer (PTC) patients.
Methods: We performed a retrospective analysis of 122 PTC patients submitted to RAI therapy due to distant metastatic disease.
Biochim Biophys Acta Mol Basis Dis
February 2024
Cutaneous melanoma (CM) is the most aggressive skin cancer, showing globally increasing incidence. Hereditary CM accounts for a significant percentage (5-15 %) of all CM cases. However, most familial cases remain without a known genetic cause.
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