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The SCN1A gene, encoding for the voltage-gated sodium channel Nav1.1, is the most clinically relevant epilepsy gene, with most mutations having been documented in a spectrum of epilepsy syndromes, ranging from the relatively benign generalized epilepsy with febrile seizures plus (GEFS+) to severe myoclonic epilepsy in infancy (SMEI), and other rare febrile seizure disorders. To date, more than 1,250 mutations in SCN1A have been linked to epilepsy. In this case, we describe a novel nonsense pathogenic variant (NM_001202435.1; c.327C > G) in SCN1A in a 10-month Moroccan infant with febrile seizure disorder. [ABSTRACT FROM AUTHOR]

Breast cancer is the most common cancer affecting women all over the world. The World Health Organization estimated that 1.38 million breast cancers were diagnosed worldwide in 2008. In Morocco, according to the Greater Casablanca Cancer Registry, breast cancer seems to be the first female cancer with a standardized incidence of 36.4 for an average age of 49.5 years. Germline mutations that inactivate BRCA1 and BRCA2 are responsible for breast and ovarian cancer susceptibility. The prevalence of BRCA1 and BRCA2 mutations where family history shows more than one occurrence of breast cancer under the age of 50 ranges from 8 to 21.2%. High throughput methods such as next generation sequencing are increasingly used in molecular diagnosis. Massive parallel sequencing allows the generation of millions of DNA sequences in a single run with low cost per base. Recently, next generation sequencing methods for the mutation analysis of the BRCA1 and BRCA2 genes in patients with breast and ovarian cancer have been described using both high capacity and bench top platforms. We utilized a workflow using the Ion Torrent Personal Genome Machine (IT-PGM; Life Technologies) an NGS platform, to screen germline mutations in BRCA1 and BRCA2 genes using the Ion AmpliSeq BRCA1 and BRCA2 Community Panel (Life Technologies). Till now, 16 breast cancer patients, considered being at high risk, due to medicinal examination were selected for molecular genetic testing of BRCA1 and BRCA2 genes. Mutations detected by IT-PGM platform were confirmed by traditional mutation detection assay Sanger sequencing. We show that the IT-PGM platform is sensitive and specific and can be used for routine mutational screening of patient with hereditary breast and ovarian cancers. [ABSTRACT FROM AUTHOR]

Triple negative breast cancer account for 10% to 20% of all newly diagnosed breast cancer cases, this subtype is well known for its lack of estrogen, progesterone and HER2 expression unlike the other subtypes of breast cancer that usually express at least one of the three. The absence of a specific biomarker for TNBC has made his treatment very challenging and his death rates very high compared to the other subtypes. Therefore, in morocco, many studies have been conducted in the hope of finding a specific biomarker for TNBC, but none of these studies has analyzed the EGFR protein expression and its gene molecular profile and correlated the EGFR analyses results with the genetic profile of other genes. In this study, we analyzed EGFR protein expression and the molecular profile of EGFR , BRCA1 , BRCA2 and TP53 genes in 47 TNBC patients. We conducted a retrospective study of 47 Moroccan patients diagnosed with triple negative breast cancer between early 2013 and 2016. In this study, we have analyzed the EGFR. Protein expression, for all the 47 TNBC patients using pharmDx Kit. Then we used the Ion Personal Genome Machine (PGM) and Ion Ampliseq BRCA1/2 panel and hotspot Cancer panel to analyze the molecular profile of BRCA1/2 genes and the hotspot regions of TP53 and EGFR genes. The statistical analysis was performed using IBM SPSS Statistics ver. From the 47 analyzed patients using EGFR pharmDx Kit only 16 (34%) had EGFR overexpression while 31 (66%), patients were normal, moreover, From the 47 TNBC patients, only 39 underwent Mutational analysis of EGFR , BRCA1/2 , and TP53 genes. One patient harbored a BRCA1 mutation c.798_799delTT (p.Ser267Lys). While for TP53 gene, 16 patients out of 39 (41%) presented hotspot mutations, seven of them harbored c.743G>A (p.Arg248Gln) mutation, six patients harbored exon 6 mutations from which five harbored the mutation c.659A>G (p.Tyr220Cys) and one the mutation c.817C>T (p.Arg273Cys), and finally, three patients harbored the mutation c.524G>A (p.Arg175His). Regarding BRCA2 and EGFR sequencing results, no mutations or other genetic alterations were detected in 39 patients that were successfully sequenced. Statistical analysis revealed the absence of any correlations., Competing Interests: None., (IJMEG Copyright © 2020.)