EGFR gene mutations were found in 16 (29%) and KRAS or NRAS alterations in 8 (14%) of the 54 tumors analyzed. We described herein seven non-hotspot/novel variants in the BRAF gene, highlighting their potential role in expanding our understanding of FCDTC genetics.

2 months ago

Journal • Real-world evidence • Real-world

EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog)

BRAF V600E • KRAS mutation • EGFR mutation • BRAF G469E • NRAS A59 • BRAF G464E • BRAF T599

over1year

Genetic Alterations In Children And Young Adults Differentiated Thyroid Cancer (ENDO 2023)

In our CAYA patients: (i) BRAF gene mutations were the most prevalent, followed by EGFR, KRAS, NRAS and PIK3CA, (ii) novel BRAFnon-V600E were identified, (iii) 13,5% had gene rearrangements which were more frequent in subjects under 18 years old. *Supported by Bayer (21641)

over 1 year ago

Clinical • Late-breaking abstract

EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • RET (Ret Proto-Oncogene) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • CCDC6 (Coiled-Coil Domain Containing 6) • ETV6 (ETS Variant Transcription Factor 6) • STRN (Striatin) • NCOA4 (Nuclear Receptor Coactivator 4) • NTRK (Neurotrophic receptor tyrosine kinase) • PPARG (Peroxisome Proliferator Activated Receptor Gamma) • PAX8 (Paired box 8) • TRIM24 (Tripartite Motif Containing 24)

BRAF V600E • KRAS mutation • EGFR mutation • PIK3CA mutation • BRAF G469E

over1year

Class II and class III BRAF mutations in patients with advanced non-small cell lung cancer (NSCLC): Clinical characteristics, mutation patterns, and survival outcomes. (ASCO 2023)

The study highlights the heterogeneity of patients with BRAF class II and class III regarding histology and co-mutational status, with both classes equally frequent. A more granular investigation of non-V600X alterations and their associated clinical outcomes under different treatment approaches is ongoing.

over 1 year ago

Clinical • Metastases

KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53)

TP53 mutation • BRAF V600E • KRAS mutation • BRAF mutation • BRAF K601E • BRAF G469A • BRAF G469E • BRAF L597Q • BRAF G466A • BRAF K601 • BRAF L597

3years

[VIRTUAL] Leptomeningeal Disease Secondary to Melanoma: Diagnosis, Treatment, and Outcomes at a Single Institution between 2013 and 2019 (EANO 2021)

Most patient were managed with Ommaya reservoir placement, radiation therapy, immunotherapy, BRAF +/- MEK inhibitors, IT thiotepa, or IT topotecan. These results indicate the potential value of the VCS as an additional tool to the gold standard in the diagnosis of LMD in patients with high suspicion of the disease. Future directions involve doing prospective studies to further validate this method, and to better understand this patient population to enhance diagnostic tools and management of LMD.

3 years ago

Clinical • IO biomarker

BRAF V600E • BRAF V600 • BRAF G469E

CELLSEARCH®

topotecan • thiotepa

over3years

Polymorphisms at site 469 of B-RAF protein associated with skin melanoma may be correlated with dabrafenib resistance: An in silico study. (PubMed, J Biomol Struct Dyn)

The study's findings would support the development of more effective treatment strategies for skin melanoma. Communicated by Ramaswamy H. Sarma.

over 3 years ago

Journal

BRAF (B-raf proto-oncogene)

BRAF G469V • BRAF G469E

Tafinlar (dabrafenib)