Characterization of a novel complex BRAF mutation in a follicular variant papillary thyroid carcinoma

European Journal of Endocrinology
Luisa BarzonMaria Rosa Pelizzo

Abstract

Activating mutations of the BRAF oncogene are frequently detected in papillary thyroid carcinoma (PTC) and have been associated with a worse prognosis. The amino acid substitution V600E accounts for 90% of all oncogenic BRAF mutations and is typically detected in classic PTCs, whereas other less frequent BRAF mutations seem to be associated with other PTC histotypes. Screening for activating BRAF mutations in a series of 83 PTCs identified the most common V600E mutation in 39 cases (histologically, 38 classic PTCs and 1 sclerosing variant PTC) and a complex in-frame mutation involving amino acids V600-S605 in a stage III multicentric follicular variant PTC, occurring in a 50-year-old female patient, who was affected by hypothyroidism in autoimmune thyroiditis and had a family history of PTC and autoimmune thyroiditis. Since the identified BRAF mutation was novel in the literature, bioinformatic modeling was performed to predict its impact on BRAF activity. Although the mutation resulted in loss of a phosphorylation site in the activation loop of BRAF, it was predicted to increase BRAF kinase activity by mimicking an activating phosphorylation. This study, which reports a new BRAF mutation, highlights the usefulness of bioinform...Continue Reading

References

Jun 18, 2002·Nature·Helen DaviesP Andrew Futreal
Jan 27, 2004·The Journal of Pathology·Vítor TroviscoManuel Sobrinho-Simões
Mar 24, 2004·Cell·Paul T C WanUNKNOWN Cancer Genome Project
Apr 20, 2004·Cancer Cell·Amardeep S Dhillon, Walter Kolch
Sep 22, 2005·The Journal of Clinical Endocrinology and Metabolism·Mingzhao XingPaul W Ladenson
Sep 6, 2007·The Journal of Clinical Endocrinology and Metabolism·Cristiana LupiFulvio Basolo

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Citations

Jun 6, 2009·Journal of Endocrinological Investigation·G MasiL Barzon
Jul 4, 2012·International Journal of Cancer. Journal International Du Cancer·Michiko MatsuseShunichi Yamashita
Aug 1, 2015·Cancer Cytopathology·Esther Diana RossiLuigi Maria Larocca
Aug 15, 2014·Journal of Korean Medical Science·Uiju ChoChan Kwon Jung
Aug 15, 2012·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Sally M HunterIan G Campbell

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