Information needs on breast cancer genetic and non-genetic risk factors in relatives of women with a BRCA1/2 or PALB2 pathogenic variant

Objectives: Comprehensive breast cancer (BC) risk models integrating effects of genetic (GRF) and non-genetic risk factors (NGRF) may refine BC prevention recommendations. We explored the perceived information received on BC risk factors, and related characteristics, in female relatives of women with a BRCA1/2 or PALB2 pathogenic variant, undergoing BC risk assessment using the CanRisk(C) prediction tool.Methods: Of 200 consecutive cancer-free women approached after the initial genetic consultation, 161 (80.5%) filled in questionnaires on their perception of information received and wished further information on BC risk factors (e.g., being a carrier of a moderate risk altered gene, personal genetic profile, lifestyles). Multilevel multivariate linear models were performed accounting for the clinician who met the counselee and exploring the effect of counselees' socio-demographic, familial and psychological characteristics on the perceived extent of information received.Results: Perceived no/little information received and wish for further information were more frequent for NGRF (>50%) than for GRF, especially high-risk genes (<20%). Perceived amount of information received and desire for further information were inversely correlated (p=<0.0001). Higher education level related to lower perceived levels of information received on GRF. Younger counselees' age (beta = 0.13, p = 0.02) and less frequent engagement coping (e.g., inclination to solicit information) (beta = 0.24, p = 0.02) related to lower perceived information received about NGRF. Other assessed counselees' features were not found to be associated to GRF and NGRF information perception.Conclusions: Awareness of counselees' perceived lack of information on BC risk factors indicates a need to enhance evidence-based information on BC NGRF especially. (C) 2021 The Authors. Published by Elsevier Ltd.Genome Instability and Cance

The KAMEO proposal: Investigation of the E2 nuclear resonance effects in kaonic atoms

- The E2 nuclear resonance effect is a phenomenon that occurs when the energy of an atomic de-excitation state closely matches that of a nuclear excita-tion state, resulting in the attenuation of certain atomic X-ray lines in the resonant isotope target. The study of this effect in kaonic atoms can provide important insight into the mechanisms of the strong kaon-nucleus interaction. In 1975, Goldfrey, Lum, and Wiegand at Lawrence Berkeley Laboratory observed the effect in 98 42Mo, but they did not have enough data to reach a conclusive result. The E2 nuclear resonance effect is expected to occur in four kaonic molybdenum isotopes (94 42Mo, 9642Mo, 98 42Mo, and 100 42 Mo) with similar energy values. The KAMEO (Kaonic Atoms Measuring Nuclear Resonance Effects Observables) proposal plans to study this effect in these isotopes at the DA &amp; phi;NE &amp; phi; factory during the SIDDHARTA-2 experiment. KAMEO will use four solid strip targets, each enriched with a different molybdenum isotope, and expose them to negatively charged kaons produced by &amp; phi; meson decays. The X-ray transition measurements will be performed using a high-purity germanium detector, and an additional solid strip target of non-resonant 9242Mo isotope will be exposed and used as a reference for standard non-resonant transitions

The SIDDHARTA-2 experiment for high precision kaonic atoms X-ray spectroscopy at DAΦNE

High precision X-ray spectroscopy of light kaonic atoms provides valuable information on kaon-nucleus interaction at threshold, allowing to investigate the strong interaction in the strangeness sector at the low-energy frontier. The SIDDHARTA-2 experiment at the DAΦNE collider of INFN-LNF is performing the challenging measurement of the kaonic deuterium 2p→1 s transition which together with the kaonic hydrogen measurement performed by SIDDHARTA, will allow to extract the isospin-dependent antikaon-nucleon scattering lengths. To achieve this goal, the optimization of the setup to maximize the signal over background ratio is a crucial step. This paper presents the SIDDHARTA-2 experiment and its optimization through the first observation of kaonic neon transitions. The excellent electromagnetic background reduction factor (∼ 104) paves the way not only to the measurement of kaonic deuterium, but also to a new era of selected kaonic atom measurements along the periodic table

Model-based probe set optimization for high-performance microarrays

A major challenge in microarray design is the selection of highly specific oligonucleotide probes for all targeted genes of interest, while maintaining thermodynamic uniformity at the hybridization temperature. We introduce a novel microarray design framework (Thermodynamic Model-based Oligo Design Optimizer, TherMODO) that for the first time incorporates a number of advanced modelling features: (i) A model of position-dependent labelling effects that is quantitatively derived from experiment. (ii) Multi-state thermodynamic hybridization models of probe binding behaviour, including potential cross-hybridization reactions. (iii) A fast calibrated sequence-similarity-based heuristic for cross-hybridization prediction supporting large-scale designs. (iv) A novel compound score formulation for the integrated assessment of multiple probe design objectives. In contrast to a greedy search for probes meeting parameter thresholds, this approach permits an optimization at the probe set level and facilitates the selection of highly specific probe candidates while maintaining probe set uniformity. (v) Lastly, a flexible target grouping structure allows easy adaptation of the pipeline to a variety of microarray application scenarios. The algorithm and features are discussed and demonstrated on actual design runs. Source code is available on request

KAONIC HELIUM-4 L-SERIES YIELD MEASUREMENT AT 2.25 g/l DENSITY BY SIDDHARTA-2 at DAΦNE

This article presents the results of the kaonic helium-4 measurement conducted by the SIDDHARTA-2 experiment, aiming to provide crucial insights into the low-energy strong interaction in the strangeness sector. High-precision X-ray spectroscopy is used to examine the interaction between negatively charged kaons and nuclei in atomic systems. The SIDDHARTA-2 setup was optimized through the kaonic helium-4 measurement in preparation for the challenging kaonic deuterium measurement. The kaonic helium-4 measurement at a new density of 2.25 g/l is reported, providing the absolute and relative yields for the L-series transitions, which are essential data for understanding kaonic atom cascade processes

First measurement of kaonic helium-4 M-series transitions

In this paper we present the results of a new kaonic helium-4 measurement with a 1.37 g l−1 gaseous target by the SIDDHARTA-2 experiment at the DAΦNE collider. We measured, for the first time, the energies and yields of three transitions belonging to the M-series. Moreover, we improved by a factor about three, the statistical precision of the 2p level energy shift and width induced by the strong interaction, obtaining the most precise measurement for gaseous kaonic helium, and measured the yield of the Lα transition at the employed density, providing a new experimental input to investigate the density dependence of kaonic atoms transitions yield

First measurement of kaonic helium-4 M-series transitions

In this paper we present the results of a new kaonic helium-4 measurement with a 1.37 g/l gaseous target by the SIDDHARTA-2 experiment at the DA{\Phi}NE collider. We measured, for the first time, the energies and yields of three transitions belonging to the Mseries. Moreover, we improved by a factor about three, the statistical precision of the 2p level energy shift and width induced by the strong interaction, obtaining the most precise measurement for gaseous kaonic helium, and measured the yield of the L{\alpha} transition at the employed density, providing a new experimental input to investigate the density dependence of kaonic atoms transitions yield.Comment: 12 pages, 5 figures, 3 table

THE ODYSSEY OF KAONIC ATOMS STUDIES AT THE DAΦNE COLLIDER: FROM DEAR TO SIDDHARTA-2

In this paper, an overview of kaonic atoms studies from the late 90s to nowadays at the DAΦNE collider at INFN-LNF is presented. Experiments on kaonic atoms are an important tool to test and optimize phenomenological models on the low-energy strong interaction. Since its construction, the DAΦNE collider has represented an ideal machine to perform kaonic atoms measurements, thanks to the unique beam of kaons coming from the φs produced in the collider decays. The DEAR and SIDDHARTA experiments achieved the precise evaluation of the shift and width of the 2p → 1s transition in kaonic hydrogen due to the strong interaction, and thus provided a measurement strictly linked to isospin-dependent antikaon–nucleon scattering lengths. To fully disentangle the iso-scalar and iso-vector scattering lengths, the measurement of kaonic deuterium is necessary as well. The SIDDHARTA-2 experiment is now taking data at the DAΦNE collider with the aim to fulfill the need of this measurement, and therefore provide important information to the various phenomenological models on low-energy strong interactions with strangeness. The SIDDHARTA-2 Collaboration is also exploring the possibility to perform future kaonic atoms experiments, developing X-ray detector systems beyond the current state-of-art. These measurements are crucial for a deeper understanding of the kaon interactions with nuclei and for solving the kaon mass “puzzle”

Potentialities of CdZnTe Quasi-Hemispherical Detectors for Hard X-ray Spectroscopy of Kaonic Atoms at the DAΦNE Collider

Kaonic atom X-ray spectroscopy is a consolidated technique for investigations on the physics of strong kaon-nucleus/nucleon interaction. Several experiments have been conducted regarding the measurement of soft X-ray emission (&lt;20 keV) from light kaonic atoms (hydrogen, deuterium, and helium). Currently, there have been new research activities within the framework of the SIDDHARTA-2 experiment and EXCALIBUR proposal focusing on performing precise and accurate measurements of hard X-rays (&gt;20 keV) from intermediate kaonic atoms (carbon, aluminum, and sulfur). In this context, we investigated cadmium-zinc-telluride (CdZnTe or CZT) detectors, which have recently demonstrated high-resolution capabilities for hard X-ray and gamma-ray detection. A demonstrator prototype based on a new cadmium-zinc-telluride quasi-hemispherical detector and custom digital pulse processing electronics was developed. The detector covered a detection area of 1 cm2 with a single readout channel and interesting room-temperature performance with energy resolution of 4.4% (2.6 keV), 3% (3.7 keV), and 1.4% (9.3 keV) FWHM at 59.5, 122.1, and 662 keV, respectively. The results from X-ray measurements at the DAΦNE collider at the INFN National Laboratories of Frascati (Italy) are also presented with particular attention to the effects and rejection of electromagnetic and hadronic background

New opportunities for kaonic atoms measurements from CdZnTe detectors

We present the tests performed by the SIDDHARTA-2 collaboration at the DA Φ NE collider with a quasi-hemispherical CdZnTe detector. The very good room-temperature energy resolution and efficiency in a wide energy range show that this detector technology is ideal for studying radiative transitions in intermediate and heavy mass kaonic atoms. The CdZnTe detector was installed for the first time in an accelerator environment to perform tests on the background rejection capabilities, which were achieved by exploiting the SIDDHARTA-2 Luminosity Monitor. A spectrum with an 241Am source has been acquired, with beams circulating in the main rings, and peak resolutions of 6% at 60 keV and of 2.2% at 511 keV have been achieved. The background suppression factor, which turned out to be of the order of ≃ 10 5 - 6 , opens the possibility to plan for future kaonic atom measurements with CdZnTe detectors