...NF1 and mosaic TP53). Eight (26%) patients died before germline testing was sent. One patient (13%) has not yet had test...
...NF1-related low-grade neuroglioma. The tumor and peritumoral edema displayed a similar mutation burden, indicating that ...
...NF1, MUC4, KMT2C, and BRAF, were identified. All RANBP2 mutations were putatively deleterious, and most affected samples...
...NF1, and AKT1 alterations. Still, molecular features, clinical behavior and prognosis of this variant remain controversi...
...NF1), with 66.7% in BRCA1 or BRCA2. Of 164 (84.5%) uninformative results, 132 (68%) were negative and 32 (16.5%) were va...
...NF1 and MEK mutations. Increasing evidence shows that the MST2/Hippo pathway is also deregulated in melanoma. While muta...
...Nf1, Ikzf3, and Bcor. Moreover, whole-exome sequencing identified recurrent mutations of genes known to be involved in B...
...NF1. Using a WGS-based classifier, homologous recombination deficiency (HRD) was identified in 2 cases, both presenting ...
...NF1 (12%), SF3B1 (11%), GNA11 (7%), GNAQ (5%), and FBXW7 (4%). A large number of chromosomal structural variants was fou...
...NF1 (in 4), PMS2 (in 4), RB1 (in 3), and RUNX1 (in 3). A total of 18 additional patients had protein-truncating mutation...
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