Your English writing platform
Discover LudwigExact(1)
We also sequenced BRAF in 52 samples and found point mutations affecting the hot spot codon 600 in exon 15 of BRAF, V600E (an activating mutation previously described in melanomas and other cancers (Wan et al, 2004)) only in 1 JPA and 1 grade II ganglioglioma (Tables 1, 2a and b; Supplementary Table 3) in keeping with previous studies (Jeuken et al, 2007; Jones et al, 2008; Pfister et al, 2008).
Similar(59)
Indeed, Deshmukh et al (2008) identified amplification of 7q34 in 8 of 10 cerebellar JPA at 138151200 139456000, which included HIPK2, a potential gene of interest.
A recurrent region of amplification at 12p11.21 was also identified in 7 of 10 JPA and 2 of 5 grade II LGA.
This project and the authors JW, JR, SJ, JPA, NN and MW were supported by the German Research Foundation (KFO 208; JW, JR and MW TP10; SJ TP2; JPA and NN TP1).
Amplification of 19p13 including killer receptor inhibitory genes (KIR) genes regulating the activity of natural killer cells within the immune system was identified in 5 of 10 JPA.
13 In four previous studies, 34, 3 14, 12 29, 12, and 15, 15 JPA were investigated for the H3F3A K27mutationono no mutation was found.
To validate amplification of the genetic interval we identified, DNA was extracted from 17 samples analysed by SNP arrays and an additional independent set of 55 samples including 22 JPA (Tables 1, 2a and b).
A total of 115 paediatric brain tumours (average 9.4±4.7 years) were analysed (Tables 1, 2a and b); 57 JPA (53 sporadic, 4 from NF1 Patients), 27 diffuse astrocytomas (grade II), 1 grade II ependymoma, 5 grade I gangliogliomas and 25 high-grade astrocytomas (HGA) were included.
To determine the specificity of 7q34 duplication to a given subgroup of LGA and identify additional genetic aberrations in tumours that do not carry this duplication, we investigated 115 paediatric brain tumour samples including 57 JPA, and 27 diffuse astrocytomas (Tables 1, 2a and b).
This group studied the 10 JPA for which V600E point mutation of BRAF (2 of 44), clinical diagnosis of NF1 (3 of 44) or the common BRAF fusion following 7q34 duplication (29 of 44) could not be found (Jones et al, 2008).
Our analysis and the several validation steps we performed characterise this region with increased precision compared to the recently published concurrent studies, which missed either BRAF or HIPK2 (Deshmukh et al, 2008; Jones et al, 2008; Pfister et al, 2008) and confirm that 7q34 amplification includes both BRAF and HIPK2 in as many as 34 of 35 JPA samples.
Write better and faster with AI suggestions while staying true to your unique style.
Since I tried Ludwig back in 2017, I have been constantly using it in both editing and translation. Ever since, I suggest it to my translators at ProSciEditing.

Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com