Search results for “Mutation”

About 3 results in articles

Open Access Pub publishes peer-reviewed, free-to-read open-access articles. Showing articles matching Mutation — open any to read the full text, or download the PDF or XML.

Molecular Diagnosis in Clinical Management and Diagnosis of Thyroid Cancer

Jan 2024 DOI 10.14302/issn.2574-4496.jtc-23-4835
Abbas Hussein Saleh HusseinCorresponding author

The prevalence of thyroid cancer is rapidly increasing worldwide, majorly due to overdiagnosis and overtreatment methods of differentiated thyroid cancer. The emergent and potent preclinical models, high-throughput molecular techniques, and genetic expression microarrays have delivered deeper insigh…

RET 898-901Del mutant, a variant of unknown significance, has a durable response to Pralsetinib in a Medullary Thyroid Carcinoma patient

Sep 2023 DOI 10.14302/issn.2574-4496.jtc-23-4722
Patrick J. ConwayCorresponding author

Background Patients with distant metastatic Medullary Thyroid Carcinoma (MTC) have an estimated 40% ten-year survival rate. Gain of function mutations in the REarranged during Transfection or RET gene in MTC can result in an aggressive phenotype resistant to traditional therapy. In this case report,…

Medullary Thyroid Cancer: Is the Adequacy of Pre-Operative Evaluation Influenced by Training Background?

May 2015 DOI 10.14302/issn.2574-4496.jtc-14-395
Amal AlhefdhiCorresponding author

Background: Medullary Thyroid Cancer (MTC) is a rare malignancy, accounting for less than 3% of all thyroid cancers and causes significant morbidity and mortality. MTC is often due to an underlying mutation of the RET proto-oncogene, which can result in additional endocrinopathies that must be scree…

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