Presumed TP53 mosaicism: variants detected using a NGS hereditary cancer multigene panel

Aims/Context: NGS multigene panels are routinely used to identify germline pathogenic variants in cancer susceptibility genes. In addition, NGS allows the identification of low-level mosaicism events that may not be detectable by conventional Sanger sequencing. We describe two cases of presumed TP53 mosaic variants detected by NGS on blood-derived DNA, and confirmed by ARMS-PCR and Sanger sequencing. Case 1: female, 87 years old, colon cancer at 83 and metachronous breast cancer at 86, no history of familial cancer. Case 2: female, 75 years old, ovarian cancer at 71, local relapse at 74. Methods: NGS using TruSight® Cancer Sequencing Panel and TruSight® Rapid Capture kit (Illumina) and paired-end sequencing on MiSeq® platform (Illumina). Bioinformatic analysis with MiSeq Reporter, Enrichment, VariantStudio, VEP, Alamut Visual, VarAFT, VarSome and IGV. ARMS-PCR and Sanger sequencing were used to confirm the TP53 variants. Results and Conclusions: Two cases of presumed TP53 mosaic variants were studied. Case 1: the missense alteration TP53: c.764T>G, p.(Ile255Ser) was detected with a variant allele frequency (VAF) of 26% (39/150 reads). This variant is described in ClinVar as a somatic alteration, classified as likely pathogenic. It is not reported in gnomAD and VarSome software classified it as a variant of uncertain significance. Case 2: missense variant TP53: c.524G>A, p.(Arg175His) detected with a VAF of 15% (10/58 reads). This variant is described as pathogenic in HGMD Professional, LOVD and ClinVar, in association with Li-Fraumeni syndrome. These two cases seem to represent TP53 mosaicism, supported by: i) VAF lower than 30%, ii) detection at the sensitivity limit of Sanger sequencing and iii) confirmation by ARMS-PCR. Confirming this hypothesis by studying tumor and other tissue samples and offspring analysis (underway in both cases), is essential for disease diagnosis, assessing recurrence risk and genetic counseling. The hypothesis of acquired aberrant clonal expansion limited to the hematologic compartment, versus a germline variant should be considered in similar cases, and confirmatory methodologies are mandatory.info:eu-repo/semantics/publishedVersio

Massive MIMO Full-Duplex Relaying with Optimal Power Allocation for Independent Multipairs

With the help of an in-band full-duplex relay station, it is possible to simultaneously transmit and receive signals from multiple users. The performance of such system can be greatly increased when the relay station is equipped with a large number of antennas on both transmitter and receiver sides. In this paper, we exploit the use of massive arrays to effectively suppress the loopback interference (LI) of a decode-and-forward relay (DF) and evaluate the performance of the end-to-end (e2e) transmission. This paper assumes imperfect channel state information is available at the relay and designs a minimum mean-square error (MMSE) filter to mitigate the interference. Subsequently, we adopt zero-forcing (ZF) filters for both detection and beamforming. The performance of such system is evaluated in terms of bit error rate (BER) at both relay and destinations, and an optimal choice for the transmission power at the relay is shown. We then propose a complexity efficient optimal power allocation (OPA) algorithm that, using the channel statistics, computes the minimum power that satisfies the rate constraints of each pair. The results obtained via simulation show that when both MMSE filtering and OPA method are used, better values for the energy efficiency are attained.Comment: Accepted to the 16th IEEE International Workshop on Signal Processing Advances in Wireless Communications - SPAWC, Stockholm, Sweden 201

SST and the Consumer Behaviour in Portuguese Financial Services

Financial services, especially commercial banking has been introducing new self-service technologies (SST), in the contact with customers, which allows the customer to accede service in an autonomous and timeless form. This paper discusses the behaviour of users and non-users of self-service technologies (namely, ATMs, call center/telephone, and internet) in Portuguese banking services. An empirical study was carried out by means of a questionnaire. Data were collected on 300 individuals, representing a sample, by region, gender and age group, of the Portuguese population, age 18 and over, and living in mainland Portugal. The results call for a user’s profile and consumer’s behaviour of SST. The SST users reveal a higher intention of repurchase, propensity to complain and higher price sensibility than the non-users. They are younger and middle-aged individuals, with a medium and high level of education. The main contribution of the paper is that banking managers that invest in SST may expect more sales (as a result of consumers with higher intention of repurchase), more opportunities of recovering the service (as a result of consumers with higher propensity to complain), but more price competitiveness (as a result of a consumer behaviour more price sensible). The paper put in evidence that SST use is not sufficient to determine consumer satisfaction and positive word-of-mouth, and it is not a barrier to bank switching.TSS (self-service technology), consumer’s behaviour, ATM, internet banking, telephone banking, Portugal