Mutation

New Study Aids in the Diagnosis of Hereditary Paraganglioma and Pheochromocytoma

A recent study in Cancer Genetics, International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma, is important for GIST patients who carry a germline SDHB mutation

By |2021-09-09T11:41:15-04:00September 9th, 2021|News, Pediatric GIST, Research, SDH-Deficient GIST|

Colectivo GIST España – la importancia de conocer la mutación de tu gist – Abril 6, 2021

Abril 6, 2021 No nos cansamos de decirlo: la importancia de conocer la mutación de tu gist para optimizar y personalizar el tratamiento El análisis de las mutaciones es probablemente un factor [...]

By |2021-04-08T15:16:24-04:00April 6th, 2021|Global, News|

MSK team finds rare new mutation

Researchers at Memorial Sloan-Kettering Cancer Center (MSKCC) in New York have found a rare mutation in some GIST tumors. In a series of 61 patients with wild-type GIST, they found that three of them (5%) had mutations in a gene called BRAF. This same mutation, a “V600E” mutation in exon 15 of the BRAF gene, occurs frequently in melanoma. They also found the same mutation in one of 28 GIST patients that were resistant to Gleevec.

By |2019-12-30T10:54:23-05:00September 11th, 2008|Research|

KIT and PDGFRA Mutations in GIST: A to Z

This is part one of a two-part series on “KIT and PDGFRA kinase mutations in GIST: from A to Z”. In this newsletter, Dr. Heinrich will provide a background on the role of kinase mutations in GIST, focusing largely on the biological and clinical implications of these mutations. In part two (which will be featured in the July 2007 edition of the newsletter, following the special “Five-year anniversary” edition),

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