作者
Chiara Diquigiovanni, Christian Bergamini, Cecilia Evangelisti, Federica Isidori, Andrea Vettori, Natascia Tiso, Francesco Argenton, Anna Costanzini, Luisa Iommarini, Hima Anbunathan, Uberto Pagotto, Andrea Repaci, Giulia Babbi, Rita Casadio, Giorgio Lenaz, Kerry J Rhoden, Anna Maria Porcelli, Romana Fato, Anne Bowcock, Marco Seri, Giovanni Romeo, Elena Bonora
发表日期
2018/10/1
期刊
International journal of cancer
卷号
143
期号
7
页码范围
1706-1719
简介
Familial aggregation is a significant risk factor for the development of thyroid cancer and familial non‐medullary thyroid cancer (FNMTC) accounts for 5–7% of all NMTC. Whole exome sequencing analysis in the family affected by FNMTC with oncocytic features where our group previously identified a predisposing locus on chromosome 19p13.2, revealed a novel heterozygous mutation (c.400G > A, NM_012335; p.Gly134Ser) in exon 5 of MYO1F, mapping to the linkage locus. In the thyroid FRTL‐5 cell model stably expressing the mutant MYO1F p.Gly134Ser protein, we observed an altered mitochondrial network, with increased mitochondrial mass and a significant increase in both intracellular and extracellular reactive oxygen species, compared to cells expressing the wild‐type (wt) protein or carrying the empty vector. The mutation conferred a significant advantage in colony formation, invasion and anchorage …
引用总数
2018201920202021202220232024151113547
学术搜索中的文章
C Diquigiovanni, C Bergamini, C Evangelisti, F Isidori… - International journal of cancer, 2018