Impact of Event Scale (IES): Psychometric properties in a Spanish sample with hereditary cancer risk

Abstract: This study assessed the psychometric properties of the Impact of Event Scale (IES) in a Spanish sample at increased risk of hereditary cancer and the contribution of socio-demographic and clinical characteristics to predict cognitive intrusions and avoidance. A total of 766 patients participated in this cross-sectional study. Psychometric analyses of the IES were performed using exploratory and confirmatory factor analyses. The influences of socio-demographic and clinical characteristics were determined using multiple linear regression analyses. The exploratory analysis supported the original two-factor solution of the IES, and the confirmatory analysis added the cross-factor loading for item 12, characteristic for this population. Related to the socio-demographic and clinical variables, patient affected by cancer (β = -.19), sex (β = .15), previous psychiatric treatment (β = -.10), and age (β = -.08), were significant predictors of the intrusion subscale. Patient affected by cancer (β = -.19), sex (β = .13), and previous psychiatric treatment (β = -.14) were significant predictors of the avoidance subscale. Keywords: Cognitive symptoms; psychometrics; genetic counseling; hereditary cancer; emotional distress. Escala del Impacto del Estresor (EIE): Propiedades psicométricas en una muestra española con riesgode cáncer hereditario Resumen: Este estudio evaluó las propiedades psicométricas de la Escala de Impacto del Estresor (EIE) en una muestra española con alto riesgo de cáncer hereditario, y la contribución de las características sociodemográficas y clínicas para predecir cogniciones de intrusión y evitación. Un total de 766 pacientes participaron en un diseño transversal. Los análisis psicométricos se realizaron a través de análisis factoriales exploratorios y confirmatorios. La influencia de las características sociodemográficas y clínicas se determinó llevando a cabo regresiones múltiples. El análisis exploratorio confirmó la solución original bifactorial del EIE, y el análisis confirmatorio añadió la carga factorial cruzada del ítem 12, que caracteriza a esta población. En las características sociodemográficas y clínicas, paciente afecto de cáncer (β = -.19), sexo (β = .15), antecedentes de tratamiento psiquiátrico (β = -.10), y edad (β = -.08), fueron predictores significativos de la subescala de intrusión. Paciente afecto de cáncer (β = -.19), sexo (β = .13), y antecedentes de tratamiento psiquiátrico (β = -.14) fueron predictores significativos de la subescala de evitación. Palabras clave: síntomas cognitivos; psicometría; consejo genético; cáncer hereditario; malestar emocional

Prevalence and Clinicopathological Characteristics of Moderate and High-Penetrance Genes in Non-BRCA1/2 Breast Cancer High-Risk Spanish Families

(1) Background: Over the last decade, genetic counseling clinics have moved from single-gene sequencing to multigene panel sequencing. Multiple genes related to a moderate risk of breast cancer (BC) have emerged, although many questions remain regarding the risks and clinical features associated with these genes. (2) Methods: Ninety-six BC index cases (ICs) with high-risk features for hereditary breast and ovarian cancer (HBOC) and with a previous uninformative result for BRCA1/2 were tested with a panel of 41 genes associated with BC risk. The frequency of pathogenic variants (PVs) was related to the clinical characteristics of BC. (3) Results: We detected a PV rate of 13.5% (excluding two cases each of BRCA1 and MUTYH). Among the 95 assessed cases, 17 PVs were identified in 16 ICs, as follows: BRCA1 (n = 2), CHEK2 (n = 3), ATM (n = 5), MUTYH (n = 2), TP53 (n = 2), BRIP1 (n = 1), CASP8 (n = 1), and MSH2 (n = 1). We also identified a novel loss-of-function variant in CASP8, a candidate gene for increased BC risk. There was no evidence that the clinical characteristics of BC might be related to a higher chance of identifying a PV. (4) Conclusions: In our cohort, which was enriched with families with a high number of BC cases, a high proportion of mutations in ATM and CHEK2 were identified. The clinical characteristics of BC associated with moderate-risk genes were different from those related to BRCA1/2 genes