PURPOSE Screening and prevention decisions for women at increased risk of developing breast cancer depend on genetic and clinical factors to estimate risk and select appropriate interventions. Integration of polygenic risk into clinical breast cancer risk estimators can improve discrimination. However, correlated genetic effects must be incorporated carefully to avoid overestimation of risk. MATERIALS AND METHODS A novel Fixed-Stratified method was developed that accounts for confounding when adding a new factor to an established risk model. A combined risk score (CRS) of an 86–single-nucleotide polymorphism polygenic risk score and the Tyrer-Cuzick v7.02 clinical risk estimator was generated with attenuation for confounding by family history. Calibration and discriminatory accuracy of the CRS were evaluated in two independent validation cohorts of women of European ancestry (N = 1,615 and N = 518). Discrimination for remaining lifetime risk was examined by age-adjusted logistic regression. Risk stratification with a 20% risk threshold was compared between CRS and Tyrer-Cuzick in an independent clinical cohort (N = 32,576). RESULTS Simulation studies confirmed that the Fixed-Stratified method produced accurate risk estimation across patients with different family history. In both validation studies, CRS and Tyrer-Cuzick were significantly associated with breast cancer. In an analysis with both CRS and Tyrer-Cuzick as predictors of breast cancer, CRS added significant discrimination independent of that captured by Tyrer-Cuzick ( P < 10−11 in validation 1; P < 10−7 in validation 2). In an independent cohort, 18% of women shifted breast cancer risk categories from their Tyrer-Cuzick–based risk compared with risk estimates by CRS. CONCLUSION Integrating clinical and polygenic factors into a risk model offers more effective risk stratification and supports a personalized genomic approach to breast cancer screening and prevention.
Cancer patients vary in their comfort with the label “survivor”. Here, we explore how comfortable males with breast cancer (BC) are about accepting the label cancer “survivor”. Separate univariate logistic regressions were performed to assess whether time since diagnosis, age, treatment status, and cancer stage were associated with comfort with the “survivor” label. Of the 70 males treated for BC who participated in the study, 58% moderately-to-strongly liked the term “survivor”, 26% were neutral, and 16% moderately-to-strongly disliked the term. Of the factors we explored, only a longer time since diagnosis was significantly associated with the men endorsing a survivor identity (OR = 1.02, p = 0.05). We discuss how our findings compare with literature reports on the comfort with the label “survivor” for women with BC and men with prostate cancer. Unlike males with prostate cancer, males with BC identify as “survivors” in line with women with BC. This suggests that survivor identity is more influenced by disease type and treatments received than with sex/gender identities.
Objective: Emerging adults (those between the ages of 18–25) have the highest rate of substance use disorder (SUD) and drop out of treatment earlier when compared to the other age groups. Retention in treatment positively correlates to long-term sobriety. There is a gap in the literature regarding how to improve retention in this age group. To optimize services for emerging adults, a better understanding of what treatment interventions work best for this population is needed. Methods: This qualitative phenomenological study explored perspectives of health care professionals (HCPs) on barriers and facilitators to treatment retention for emerging adults with SUD. Semi-structured interviews were conducted with nine HCPs from two SUD programs (residential detoxification and residential treatment). Interviews were transcribed verbatim, coded by developing a list of significant common statements, and themes emerged from these statements. Results: Four themes related to facilitators and barriers to treatment retention were identified: the emerging adults’ development, their addiction and recovery, the environment, and SUD programming. Future policy recommendations include tailoring programs to the unique needs of the emerging adult, tailoring programs to be as flexible as possible, and including HCPs in the design of SUD programming. Conclusion: HCPs felt emerging adults with SUD are a distinct population that requires more support and understanding. Improving retention in treatment for emerging adults could help to ensure they are receiving the best possible care for their level of development. This will help improve their lives by increasing their quality of life and enhancing the likelihood of long-term sobriety. Objectif: Les adultes émergents (ceux âgés de 18 à 25 ans) ont le taux le plus élevé de troubles liés à la consommation de substances (SUD) et abandonnent les traitements plus tôt par rapport aux autres groupes d’âge. La persévérance en traitement est positivement corrélée à la sobriété à long terme. Il existe une lacune dans la littérature concernant la façon d’améliorer la persévérance à l’intérieur d’un traitement dans ce groupe d’âge. Afin d’optimiser les services pour les adultes émergents, une meilleure compréhension des interventions thérapeutiques les plus efficaces pour cette population est nécessaire. Méthodes: Cette étude phénoménologique qualitative a exploré les perspectives des professionnels de la santé (HCPs) concernant les obstacles et les facilitateurs à la persévérance de traitement pour les adultes émergents atteints de SUD. Des entretiens semi-structurés ont été menés avec neuf HCPs de deux programmes SUD (désintoxication résidentielle et traitement résidentiel). Les entrevues ont été transcrites textuellement, codées en élaborant une liste de déclarations communes importantes, et des thèmes ont émergé de ces déclarations. Résultats: Quatre thèmes liés aux facilitateurs et aux obstacles à la persévérance au traitement ont été identifiés: le développement des adultes émergents, leur dépendance et leur rétablissement, l’environnement et les programmes SUD. Les futures recommandations politiques incluent l’adaptation des programmes aux besoins uniques des adultes émergents, l’adaptation des programmes pour être aussi flexibles que possible et l’inclusion des HCPs dans la conception des programmes SUD. Conclusion: Les HCPs estimaient que les adultes émergents atteints de SUD constituent une population distincte qui nécessite plus de soutien et de compréhension. L’amélioration de la persévérance dans le traitement des adultes émergents pourrait aider à garantir qu’ils reçoivent les meilleurs soins possibles pour leur niveau de développement. Cela contribuera à améliorer leur vie en augmentant leur qualité de vie et en augmentant la probabilité de sobriété à long terme.
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