Lack of Mutations in POT1 Gene in Selected Families with Familial Non-Medullary Thyroid Cancer
Por:
Orois, A, Badenas, C, Reverter, JL, Lopez, V, Potrony, M, Mora, M, Halperin, I and Oriola, J
Publicada:
1 abr 2020
Ahead of Print:
14 mar 2020
Resumen:
To date, the genes involved in familial non-medullary thyroid cancer (FNMTC) remain poorly understood, with the exception of syndromic cases of FNMTC. It has been proposed that germline mutations in telomere-related genes, such as POT1, described in familial melanoma might also predispose individuals to thyroid cancer, requiring further research. We aimed to identify germline mutations in POT1 in selected FNMTC families (with at least three affected members) without a history of other cancers or other features, and to describe the clinical characteristics of these families. Sequencing of the 5 ' UTR and coding regions of POT1 was performed in seven affected people (index cases) from seven families with FNMTC. In addition, we performed whole-exome sequencing (WES) of DNA from 10 affected individuals belonging to four of these families. We did not find germline variants of interest in POT1 by Sanger sequencing or WES. We neither found putative causative mutations in genes previously described as candidate genes for FNMTC in the 4 families studied by WES. In our study, no germline potentially pathogenic mutations were detected in POT1, minimizing the possibilities that this gene could be substantially involved in non-syndromic FNMTC.
Filiaciones:
Orois, A:
Hosp Clin Barcelona, Dept Endocrinol & Nutr, ICMDM, C Villarroel 170, E-08036 Barcelona, Spain
Hosp Univ Mutua Terrassa, Dept Endocrinol & Nutr, Terrassa 08221, Spain
Badenas, C:
Hosp Clin Barcelona, Dept Biochem & Mol Genet, CDB, E-08036 Barcelona, Spain
IDIBAPS, Barcelona 08036, Spain
Inst Salud Carlos III, CIBERER, Madrid 28029, Spain
:
Univ Autonoma Barcelona, Germans Trias & Pujol Hlth Sci Res Inst & Hosp, Dept Endocrinol & Nutr, Badalona 08196, Spain
Lopez, V:
Hosp Clin Barcelona, Dept Biochem & Mol Genet, CDB, E-08036 Barcelona, Spain
IDIBAPS, Barcelona 08036, Spain
Inst Salud Carlos III, CIBERER, Madrid 28029, Spain
Potrony, M:
Hosp Clin Barcelona, Dept Biochem & Mol Genet, CDB, E-08036 Barcelona, Spain
IDIBAPS, Barcelona 08036, Spain
Inst Salud Carlos III, CIBERER, Madrid 28029, Spain
Mora, M:
Hosp Clin Barcelona, Dept Endocrinol & Nutr, ICMDM, C Villarroel 170, E-08036 Barcelona, Spain
IDIBAPS, Barcelona 08036, Spain
Univ Barcelona, Fac Med, E-08007 Barcelona, Spain
Inst Salud Carlos III, Ctr Invest Biomed Diabet & Enfermedades Metab Aso, Madrid 28029, Spain
Halperin, I:
Hosp Clin Barcelona, Dept Endocrinol & Nutr, ICMDM, C Villarroel 170, E-08036 Barcelona, Spain
Oriola, J:
Hosp Clin Barcelona, Dept Biochem & Mol Genet, CDB, E-08036 Barcelona, Spain
IDIBAPS, Barcelona 08036, Spain
Univ Barcelona, Fac Med, E-08007 Barcelona, Spain
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