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2.
J Natl Cancer Inst Monogr ; 2024(64): 62-69, 2024 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-38924794

RESUMEN

Drawing from insights from communication science and behavioral economics, the University of Pennsylvania Telehealth Research Center of Excellence (Penn TRACE) is designing and testing telehealth strategies with the potential to transform access to care, care quality, outcomes, health equity, and health-care efficiency across the cancer care continuum, with an emphasis on understanding mechanisms of action. Penn TRACE uses lung cancer care as an exemplar model for telehealth across the care continuum, from screening to treatment to survivorship. We bring together a diverse and interdisciplinary team of international experts and incorporate rapid-cycle approaches and mixed methods evaluation in all center projects. Our initiatives include a pragmatic sequential multiple assignment randomized trial to compare the effectiveness of telehealth strategies to increase shared decision-making for lung cancer screening and 2 pilot projects to test the effectiveness of telehealth to improve cancer care, identify multilevel mechanisms of action, and lay the foundation for future pragmatic trials. Penn TRACE aims to produce new fundamental knowledge and advance telehealth science in cancer care at Penn and nationally.


Asunto(s)
Neoplasias Pulmonares , Telemedicina , Humanos , Pennsylvania , Neoplasias Pulmonares/terapia , Neoplasias Pulmonares/diagnóstico , Universidades , Detección Precoz del Cáncer/métodos , Proyectos Piloto
3.
J Cancer Surviv ; 18(1): 29-33, 2024 02.
Artículo en Inglés | MEDLINE | ID: mdl-38294601

RESUMEN

The Cancer Survivorship Program was established at the University of Pennsylvania Cancer Center in 2001. The Cancer Center was renamed the Abramson Cancer Center of the University of Pennsylvania in 2002 and the survivorship program was henceforth known as the ACC Survivorship Program. The program was supported from 2001 to 2004 in part by a seed grant from the Lance Armstrong Foundation (LAF). The LIVESTRONG Survivorship Centers of Excellence Network was created by the LAF in 2005 and the ACC Survivorship Program joined the Network in 2007. The seven nationwide Cancer Centers that comprised the Network were supported by the LAF through 2015. A focus on clinical care, research, and education led the development of the ACC Survivorship Program. The program is currently led by an advanced practice provider (APP) and staffed by medical, surgical, and radiation oncology APPs and collaborating oncologists. This program provides care to adult survivors of pediatric cancers, as well as survivors of adult-onset cancers such as breast, genitourinary/prostate, lymphoma, head and neck, gastrointestinal, thoracic, sarcoma, and central nervous system. Research protocols for survivors of specific cancer diagnoses have been developed and have resulted in collaborative research, publications, and conference presentations. Sustaining the ACC Survivorship Program has been challenging despite strong endorsement of services by patients, families, and providers. Challenges include barriers such as cost restraints, changing cancer center priorities, and a reduced oncology workforce, issues experienced across the country that must be addressed in the years to come.


Asunto(s)
Supervivientes de Cáncer , Neoplasias , Sarcoma , Masculino , Adulto , Niño , Humanos , Neoplasias/terapia , Sobrevivientes , Oncología Médica/educación , Supervivencia
4.
JCO Oncol Pract ; 20(4): 483-490, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38237102

RESUMEN

PURPOSE: Capecitabine is an oral chemotherapy used to treat many gastrointestinal cancers. Its complex dosing and narrow therapeutic index make medication adherence and toxicity management crucial for quality care. METHODS: We conducted a pilot study of PENNY-GI, a mobile phone text messaging-based chatbot that leverages algorithmic surveys and natural language processing to promote medication adherence and toxicity management among patients with gastrointestinal cancers on capecitabine. Eligibility initially included all capecitabine-containing regimens but was subsequently restricted to capecitabine monotherapy because of challenges in integrating PENNY-GI with radiation and intravenous chemotherapy schedules. We used design thinking principles and real-time data on safety, accuracy, and usefulness to make iterative refinements to PENNY-GI with the goal of minimizing the proportion of text messaging exchanges with incorrect medication or symptom management recommendations. All patients were invited to participate in structured exit interviews to provide feedback on PENNY-GI. RESULTS: We enrolled 40 patients (median age 64.5 years, 52.5% male, 62.5% White, 55.0% with colorectal cancer, 50.0% on capecitabine monotherapy). We identified 284 of 3,895 (7.3%) medication-related and 13 of 527 (2.5%) symptom-related text messaging exchanges with incorrect recommendations. In exit interviews with 24 patients, participants reported finding the medication reminders reliable and user-friendly, but the symptom management tool was too simplistic to be helpful. CONCLUSION: Although PENNY-GI provided accurate recommendations in >90% of text messaging exchanges, we identified multiple limitations with respect to the intervention's generalizability, usefulness, and scalability. Lessons from this pilot study should inform future efforts to develop and implement digital health interventions in oncology.


Asunto(s)
Teléfono Celular , Neoplasias Gastrointestinales , Humanos , Masculino , Persona de Mediana Edad , Femenino , Capecitabina/farmacología , Capecitabina/uso terapéutico , Proyectos Piloto , Cumplimiento de la Medicación
5.
Eur Urol ; 85(4): 337-345, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37246069

RESUMEN

BACKGROUND: Testicular germ cell tumor (TGCT) is the most common cancer among young White men. TGCT is highly heritable, although there are no known high-penetrance predisposition genes. CHEK2 is associated with moderate TGCT risk. OBJECTIVE: To identify coding genomic variants associated with predisposition to TGCT. DESIGN, SETTING, AND PARTICIPANTS: The study involved 293 men with familial or bilateral (high risk; HR)-TGCT representing 228 unique families and 3157 cancer-free controls. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: We carried out exome sequencing and gene burden analysis to identify associations with TGCT risk. RESULTS AND LIMITATIONS: Gene burden association identified several genes, including loss-of-function variants of NIN and QRSL1. We identified no statistically significant association with the sex- and germ-cell development pathways (hypergeometric overlap test: p = 0.65 for truncating variants, p = 0.47 for all variants) or evidence of associations with the regions previously identified via genome-wide association studies (GWAS). When considering all significant coding variants together with genes associated with TGCT on GWAS, there were associations with three major pathways: mitosis/cell cycle (Gene Ontology identity GO:1903047: observed/expected variant ratio [O/E] 6.17, false discovery rate [FDR] 1.53 × 10-11), co-translational protein targeting (GO:0006613: O/E 18.62, FDR 1.35 × 10-10), and sex differentiation (GO:0007548: O/E 5.25, FDR 1.90 × 10-4). CONCLUSIONS: To the best of our knowledge, this study is the largest to date on men with HR-TGCT. As in previous studies, we identified associations with variants for several genes, suggesting multigenic heritability. We identified associations with co-translational protein targeting, and chromosomal segregation and sex determination, identified via GWAS. Our results suggest potentially druggable targets for TGCT prevention or treatment. PATIENT SUMMARY: We searched for gene variations that increase the risk of testicular cancer and found numerous new specific variants that contribute to this risk. Our results support the idea that many gene variants inherited together contribute to the risk of testicular cancer.


Asunto(s)
Neoplasias de Células Germinales y Embrionarias , Neoplasias Testiculares , Masculino , Humanos , Neoplasias Testiculares/genética , Neoplasias Testiculares/patología , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Secuenciación del Exoma , Estudios de Casos y Controles , Neoplasias de Células Germinales y Embrionarias/genética , Células Germinativas/patología
6.
J Natl Compr Canc Netw ; 21(8): 851-880, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-37549914

RESUMEN

This selection from the NCCN Guidelines for Adolescent and Young Adult (AYA) Oncology focuses on considerations for the comprehensive care of AYA patients with cancer. Compared with older adults with cancer, AYA patients have unique needs regarding treatment, fertility counseling, psychosocial and behavioral issues, and supportive care services. The complete version of the NCCN Guidelines for Adolescent and Young Adult (AYA) Oncology addresses additional aspects of caring for AYA patients, including risk factors, screening, diagnosis, and survivorship.


Asunto(s)
Oncología Médica , Neoplasias , Humanos , Adolescente , Adulto Joven , Anciano , Neoplasias/diagnóstico , Neoplasias/terapia , Neoplasias/psicología , Consejo , Supervivencia , Factores de Riesgo
8.
J Health Popul Nutr ; 42(1): 48, 2023 05 29.
Artículo en Inglés | MEDLINE | ID: mdl-37248541

RESUMEN

PURPOSE: To determine to what extent head and neck cancer (HNC) survivors participate in health behaviors (HBs) recommended by the National Cancer Center Network (NCCN®). METHODS: Participants identified through the tumor registries at the Abramson Cancer Center (ACC), University of Pennsylvania and affiliated sites. Eligibility: (a) diagnosis and treatment HNC; (b) aged 18 to 70 years; (c) ≥ 1-year post-diagnosis; (d) human papillomavirus (HPV) status confirmed; (e) ability to understand written English. Potential participants received an explanation of the study, informed consent, self-reported questionnaire, and self-addressed stamped envelope. RESULTS: 451 individuals eligible, 102 (23%) agreed to participate, HPV positive (74%). Current smoking rare (7%), historical use common (48%). Current alcohol use common (65%), average 2.1 drinks/day, 12 days/month. 22% binge drank with an average of 3.5 binge-drinking sessions per month. Nutritional behavior mean 7.1 (range 0-16), lower scores indicating better nutrition. Body mass index (BMI) 59% overweight/obese. Adequate aerobic exercise 59%, adequate strength and flexibility 64%. Leisure time activity, 18% sedentary, 19% moderately active, 64% active. All participants reported having a primary care physician, 92% seen in the previous 12 months. CONCLUSIONS: Most HNC survivors participated in some HBs. Current smoking rarely reported, binge drinking and high BMI most common negative HBs. Opportunities remain to improve dietary and exercise behaviors. IMPLICATIONS FOR CANCER SURVIVORS: The NCCN® has outlined HBs that decrease likelihood of cancer survivors developing comorbidities that could impact overall survival. It is incumbent on healthcare providers to educate and encourage cancer survivors to participate in these HBs.


Asunto(s)
Supervivientes de Cáncer , Neoplasias de Cabeza y Cuello , Infecciones por Papillomavirus , Humanos , Sobrevivientes , Conductas Relacionadas con la Salud , Neoplasias de Cabeza y Cuello/epidemiología , Neoplasias de Cabeza y Cuello/terapia
9.
J Adolesc Young Adult Oncol ; 12(5): 701-709, 2023 10.
Artículo en Inglés | MEDLINE | ID: mdl-36779982

RESUMEN

Purpose: The majority of adolescent and young adult (AYA) cancer survivors do not receive recommended health care surveillance after therapy. We used cross-sectional survey data to evaluate the impact of income, education, marital status, and insurance on health care adherence among AYA survivors. Methods: Eligible survivors were 18-39 years at diagnosis with invasive malignancy, 1-5 years from therapy completion. Online surveys assessed sociodemographic factors and self-report of completion of recommended health care services. Diagnosis and treatment data were abstracted from medical records. Multivariable logistic regression calculated odds ratios (ORs) and 95% confidence intervals (CIs) for adherence in relation to socioeconomic status and support. Results: Of 344 participants, 36% were adherent to at least 80% of recommendations. Adherence varied by cancer type: 34% for breast cancer, 52% for leukemia/lymphoma, 23% for other tumors. Adherence rates were similar among White, Asian, and Hispanic/Latinx patients. Lower adherence was associated with lower education (OR: 0.43; 95% CI: 0.23-0.80 for <4-year college degree) and lower annual income (OR: 0.51; 95% CI: 0.28-0.95 for $41,000-$80,000; OR: 0.40; 95% CI: 0.19-0.86 for ≤$40,000). Adherence decreased with decreasing income levels among those who were 1 to less than 3 years after diagnosis (OR: 0.25; 95% CI: 0.07-0.93 for $81,000-$120,000; OR: 0.24; 95% CI: 0.07-0.84 for $41,000-$80,000; OR: 0.13; 95% CI: 0.03-0.60 for ≤$40,000). Conclusion: Risk of nonadherence to health care guidelines was associated with lower income and lower education among AYA cancer survivors. Identification of these risks and related barriers to adherence in AYA survivors will inform interventions designed to meet needs of these high-risk groups, particularly during the first years after diagnosis. Trial Registration: NCT02192333.


Asunto(s)
Neoplasias de la Mama , Supervivientes de Cáncer , Neoplasias , Humanos , Adolescente , Adulto Joven , Femenino , Estudios Transversales , Atención a la Salud , Neoplasias/diagnóstico , Factores Socioeconómicos
11.
Urol Oncol ; 40(8): 385.e9-385.e17, 2022 08.
Artículo en Inglés | MEDLINE | ID: mdl-35659482

RESUMEN

INTRODUCTION: Despite high curability, patients with metastatic germ cell tumors (GCT) in the United States general population persistently face inferior outcomes compared with those treated in specialty referral centers. We characterized guideline discordant management in patients with metastatic GCT who experienced relapse after first-line chemotherapy and compared those who were initially treated in community practices vs. academic referral centers. PATIENTS/METHODS: Retrospective analysis of 53 patients with relapsed GCT between 2005 and 2018. First-line GCT management was assessed against the National Comprehensive Cancer Network guidelines. Guideline discordant management, predictors of discordance, and associations with outcomes were assessed. RESULTS: Of 53 patients with relapsed GCT, 34% received guideline discordant care in the first-line setting. Guideline discordant care was more prevalent in patients initially treated in community practices (12/30, 40%) vs. those initially treated in academic centers (3/22, 14%), though in multivariate logistic regression, this difference was not statistically significant (odds ratio: 4.07, P = 0.08). Most patients in community settings who received guideline discordant care were undertreated (10/12, 83%). There were 3 major reasons for guideline discordant care: (1) failure to resect residual masses after chemotherapy (27%, 4/15), (2) mismanagement of chemotherapy-related adverse events (27%, 4/15), and (3) under staging at diagnosis, resulting either insufficient chemotherapy regimen intensity (13%, 2/15) and/or inappropriately receiving primary surgical resection for metastatic disease (20%, 3/15). CONCLUSION: Under treatment was identified in nearly half of patients initially treated in a community setting who later developed relapsed GCT. Referral to specialized centers for a second opinion should be considered for all metastatic GCT patients in the first-line setting and all patients with post-chemotherapy residual disease. More effective methods should be developed to facilitate second opinions from expert centers in the United States.


Asunto(s)
Neoplasias de Células Germinales y Embrionarias , Neoplasias Primarias Secundarias , Humanos , Recurrencia Local de Neoplasia , Neoplasia Residual , Neoplasias de Células Germinales y Embrionarias/terapia , Neoplasias Primarias Secundarias/terapia , Guías de Práctica Clínica como Asunto , Estudios Retrospectivos
12.
JACC CardioOncol ; 4(1): 124-125, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-35492816
13.
J Cancer Surviv ; 16(5): 1149-1164, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-34590205

RESUMEN

PURPOSE: Young adult (YA) cancer survivors have high rates of adverse health and psychosocial outcomes. This risk-stratified, multicenter, randomized controlled trial (RCT) compared a self-management survivorship intervention to usual care in YA survivors with symptoms of cancer-related distress, insomnia, fatigue, pain, and/or depression. METHODS: Eligibility included age 18-39 at diagnosis with an invasive malignancy in the previous 1-5 years. Baseline assessment determined "high need" participants, with 2-5 elevated targeted symptoms. We randomized high need participants to intervention or usual care and offered intervention participants a survivorship clinic visit, which included mutually decided action plans for symptoms. Follow-up calls at 1 and 3 months after the clinic visit reviewed action plan progress. Outcomes compared rates of improved symptoms for intervention vs usual care at 6 months and 12 months. RESULTS: N = 344 completed baseline assessment, with n = 147 (43%) categorized as high need and randomized. Of n = 73 randomized to the intervention, n = 42 (58%) did not attend their survivorship clinic visit. In intent-to-treat analyses, aggregate symptom scores did not differ between arms, though distress improved for 46% in the intervention arm at 6 months compared to 18% in usual care (p = 0.03) among those with elevated distress at baseline. CONCLUSIONS: Distress improved for YAs who received self-management survivorship care. However, the study demonstrates a need for alternative strategies for providing YA survivorship care. TRIAL REGISTRATION: NCT02192333 IMPLICATIONS FOR CANCER SURVIVORS: While YA survivors demonstrate some improved distress when provided survivorship care, to make care accessible and effective, they require options such as remote delivery of care.


Asunto(s)
Supervivientes de Cáncer , Neoplasias , Adolescente , Adulto , Supervivientes de Cáncer/psicología , Fatiga/etiología , Fatiga/terapia , Humanos , Neoplasias/psicología , Neoplasias/terapia , Calidad de Vida , Autocuidado , Supervivencia , Adulto Joven
14.
Pediatr Blood Cancer ; 68(3): e28884, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-33416214

RESUMEN

BACKGROUND: Self-management interventions for adolescent and young adult (AYA) survivors of childhood cancer are needed. The present study reports on the acceptability and feasibility of delivering survivorship care plans (SCPs) and an accompanying app to AYA. PROCEDURE: AYA (n = 224) ages 15-29 who completed treatment for cancer were randomized and received a digital SCP only or an SCP plus a mobile app intended to enhance self-management. For 16 weeks, the app delivered one to two daily messages complementing information in their SCP and tailored based on age, treatment, and health goal. Data are presented on feasibility, self-reported acceptability (including satisfaction and perceived benefits) and its relationship to app engagement (for those in app group), and feedback from qualitative interviews conducted with 10 AYA. RESULTS: The SCP and app proved feasible as evidenced by high recruitment and retention, access to technology, time analysis, moderate app engagement, and minimal technical issues. However, 12% reported never reading the SCP and 8% never used the app. The app and SCP were acceptable to AYA, and SCP acceptability ratings did not differ between groups. For those with the app, acceptability was positively related to message engagement. AYA recommended enhanced individualization and design features of the SCP and app. CONCLUSIONS: Results support the use of tailored SCPs and mobile health interventions for most AYA, as well as the need for further refinement and research. Delivery of SCPs and digital interventions are acceptable and feasible to AYA survivors, and may help promote health-related knowledge and survivorship self-management.


Asunto(s)
Supervivientes de Cáncer/estadística & datos numéricos , Promoción de la Salud , Aplicaciones Móviles/estadística & datos numéricos , Neoplasias/prevención & control , Planificación de Atención al Paciente/normas , Supervivencia , Adolescente , Adulto , Niño , Estudios de Factibilidad , Femenino , Estudios de Seguimiento , Humanos , Masculino , Motivación , Pronóstico , Tasa de Supervivencia , Adulto Joven
15.
PLoS One ; 15(11): e0239321, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33175879

RESUMEN

BACKGROUND: Testicular germ cell tumor (TGCT) incidence has increased in recent decades along with the use and dose of diagnostic radiation. Here we examine the association between reported exposure to diagnostic radiation and TGCT risk. METHODS: We conducted a case-control study of men with and without TGCT recruited from hospital- and population-based settings. Participants reported on exposures to 1) x-ray or CT below the waist and 2) lower GI series or barium enema, which consists of a series of x-rays of the colon. We also derived a combined measure of exposure. We used logistic regression to determine the risk of developing TGCT according to categories of exposures (0, 1-2, or ≥3 exposures) and age at first exposure, adjusting for age, year of birth, race, county, body mass index at diagnosis, family history of TGCT, and personal history of cryptorchidism. RESULTS: There were 315 men with TGCT and 931 men without TGCT in our study. Compared to no exposures, risk of TGCT was significantly elevated among those reporting at least three exposures to x-ray or CT (OR≥3 exposures, 1.78; 95% CI, 1.15-2.76; p = 0.010), lower GI series or barium enema (OR≥3 exposures, 4.58; 95% CI, 2.39-8.76; p<0.001), and the combined exposure variable (OR≥3 exposures, 1.59; 95% CI, 1.05-2.42; p = 0.029). The risk of TGCT was elevated for those exposed to diagnostic radiation at age 0-10 years, compared to those first exposed at age 18 years or later, although this association did not reach statistical significance (OR, 2.00; 95% CI, 0.91-4.42; p = 0.086). CONCLUSIONS: Exposure to diagnostic radiation below the waist may increase TGCT risk. If these results are validated, efforts to reduce diagnostic radiation doses to the testes should be prioritized.


Asunto(s)
Cavidad Abdominal/efectos de la radiación , Diagnóstico por Imagen/efectos adversos , Neoplasias de Células Germinales y Embrionarias/etiología , Pelvis/efectos de la radiación , Traumatismos por Radiación/etiología , Neoplasias Testiculares/etiología , Adolescente , Adulto , Factores de Edad , Estudios de Casos y Controles , Niño , Preescolar , Criptorquidismo/etiología , Humanos , Lactante , Recién Nacido , Modelos Logísticos , Masculino , Persona de Mediana Edad , Radiación , Factores de Riesgo , Testículo/efectos de la radiación , Adulto Joven
16.
Cancer ; 125(11): 1908-1917, 2019 06 01.
Artículo en Inglés | MEDLINE | ID: mdl-30707763

RESUMEN

BACKGROUND: The impact of cancer and its treatment on employment and financial burden in adolescents/young adults (AYAs) is not fully known. METHODS: Eligibility for this cross-sectional study of AYA cancer survivors included the diagnosis of a malignancy between ages 18 and 39 years and survey completion within 1 to 5 years from diagnosis and ≥1 year after therapy completion. Participants were selected randomly from the tumor registries of 7 participating sites and completed an online patient-reported outcomes survey to assess employment and financial concerns. Treatment data were abstracted from medical records. Data were analyzed across diagnoses and by tumor site using logistic regression and Wald-based 95% confidence intervals adjusting for age (categorized), sex, insurance status, education (categorized), and treatment exposures. RESULTS: Participants included 872 survivors (breast cancer, n = 241; thyroid cancer, n = 126; leukemia/lymphoma, n = 163; other malignancies, n = 342). Exposure to chemotherapy in breast cancer survivors was associated with an increase in self-reported mental impairment in work tasks (odds ratio [OR], 2.66) and taking unpaid time off (OR, 2.62); survivors of "other" malignancies reported an increase in mental impairment of work tasks (OR, 3.67) and borrowing >$10,000 (OR, 3.43). Radiation exposure was associated with an increase of mental impairment in work tasks (OR, 2.05) in breast cancer survivors, taking extended paid time off work in thyroid cancer survivors (OR, 5.05), and physical impairment in work tasks in survivors of "other" malignancies (OR, 3.11). Finally, in survivors of "other" malignancies, having undergone surgery was associated with an increase in physical (OR, 3.11) and mental impairment (OR, 2.31) of work tasks. CONCLUSIONS: Cancer treatment has a significant impact on AYA survivors' physical and mental work capacity and time off from work.


Asunto(s)
Supervivientes de Cáncer/psicología , Neoplasias/economía , Neoplasias/terapia , Desempleo/estadística & datos numéricos , Adolescente , Adulto , Costo de Enfermedad , Estudios Transversales , Femenino , Financiación Personal , Humanos , Modelos Logísticos , Masculino , Medición de Resultados Informados por el Paciente , Adulto Joven
17.
JAMA Oncol ; 5(4): 514-522, 2019 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-30676620

RESUMEN

IMPORTANCE: Approximately 50% of the risk for the development of testicular germ cell tumors (TGCTs) is estimated to be heritable, but no mendelian TGCT predisposition genes have yet been identified. It is hypothesized that inherited pathogenic DNA repair gene (DRG) alterations may drive susceptibility to TGCTs. OBJECTIVE: To systematically evaluate the enrichment of germline pathogenic variants in the mendelian cancer predisposition DRGs in patients with TGCTs vs healthy controls. DESIGN, SETTING, AND PARTICIPANTS: A case-control enrichment analysis was performed from January 2016 to May 2018 to screen for 48 DRGs in 205 unselected men with TGCT and 27 173 ancestry-matched cancer-free individuals from the Exome Aggregation Consortium cohort in the discovery stage. Significant findings were selectively replicated in independent cohorts of 448 unselected men with TGCTs and 442 population-matched controls, as well as 231 high-risk men with TGCTs and 3090 ancestry-matched controls. Statistical analysis took place from January to May 2018. MAIN OUTCOMES AND MEASURES: Gene-level enrichment analysis of germline pathogenic variants in individuals with TGCTs relative to cancer-free controls. RESULTS: Among 205 unselected men with TGCTs (mean [SD] age, 33.04 [9.67] years), 22 pathogenic germline DRG variants, one-third of which were in CHEK2 (OMIM 604373), were identified in 20 men (9.8%; 95% CI, 6.1%-14.7%). Unselected men with TGCTs were approximately 4 times more likely to carry germline loss-of-function CHEK2 variants compared with cancer-free individuals from the Exome Aggregation Consortium cohort (odds ratio [OR], 3.87; 95% CI, 1.65-8.86; nominal P = .006; q = 0.018). Similar enrichment was also seen in an independent cohort of 448 unselected Croatian men with TGCTs (mean [SD] age, 31.98 [8.11] years) vs 442 unselected Croatian men without TGCTs (at least 50 years of age at time of sample collection) (OR, >1.4; P = .03) and 231 high-risk men with TGCTs (mean [SD] age, 31.54 [9.24] years) vs 3090 men (all older than 50 years) from the Penn Medicine Biobank (OR, 6.30; 95% CI, 2.34-17.31; P = .001). The low-penetrance CHEK2 variant (p.Ile157Thr) was found to be a Croatian founder TGCT risk variant (OR, 3.93; 95% CI, 1.53-9.95; P = .002). Individuals with the pathogenic CHEK2 loss-of-function variants developed TGCTs 6 years earlier than individuals with CHEK2 wild-type alleles (5.95 years; 95% CI, 1.48-10.42; P = .009). CONCLUSIONS AND RELEVANCE: This multicenter case-control analysis of men with or without TGCTs provides evidence for CHEK2 as a novel moderate-penetrance TGCT susceptibility gene, with potential clinical utility. In addition to highlighting DNA-repair deficiency as a potential mechanism driving TGCT susceptibility, this analysis also provides new avenues to explore management strategies and biological investigations for high-risk individuals.


Asunto(s)
Quinasa de Punto de Control 2/genética , Predisposición Genética a la Enfermedad , Neoplasias de Células Germinales y Embrionarias/genética , Neoplasias Testiculares/genética , Adulto , Estudios de Casos y Controles , Mutación de Línea Germinal , Humanos , Masculino , Adulto Joven
18.
Clin Pract Pediatr Psychol ; 7(1): 31-43, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-38882593

RESUMEN

Objectives: Methods for developing mobile health (mHealth) interventions are not well described. To guide the development of future mHealth interventions, we describe the application of the agile science framework to iteratively develop a mHealth intervention for adolescent and young adult (AYA) survivors of childhood cancer. Methods: We created the AYA STEPS mobile app (AYA Self-management via Texting, Education, and Plans for Survivorship) by modifying and integrating two existing programs: an online survivorship care plan (SCP) generator and a text messaging self-management intervention for AYA off treatment. The iterative development process involved three stages of agile science: 1) Formative work, 2) Obtaining feedback about the first AYA STEPS prototype, and 3) Pilot testing and finalization of a prototype. We determined preferences of AYA stakeholders as well as discovered and addressed technology problems prior to beginning a subsequent randomized controlled trial. Results: AYA survivors reported that the app and the embedded tailored messages related to their health and SCP, were easy to use and generally satisfying and beneficial. Usage data supported that AYA were engaged in the app. Technology glitches were discovered in the pilot and addressed. Conclusions: The iterative development of AYA STEPS was essential for creating a consistent and acceptable end user experience. This study serves as one example of how behavioral scientists may apply agile science to their own mHealth research.

19.
J Adolesc Young Adult Oncol ; 7(4): 430-437, 2018 08.
Artículo en Inglés | MEDLINE | ID: mdl-29570983

RESUMEN

PURPOSE: Young adult survivors (YAS) of cancer experience late effects of treatment similar to older adult survivors (AS). Online health tools such as Internet-based survivorship care plans (SCPs) can provide access to information about late effects and symptom management, but little is known about SCP patterns of use among YAS. METHODS: An Internet-based cross-sectional survey was completed over 24 months. Participants were individuals diagnosed with cancer between 18 and 39 years (YAS, n = 611) or 40-60 years (AS, n = 1742), who were 2-20 years postdiagnosis, and who created an Internet-based SCP. Demographics, treatment-related variables, satisfaction with SCP, communication of SCP, and patient-reported late effects (fatigue, neurocognitive, sexual, cardiovascular, pulmonary, or second cancers) were collected. RESULTS: YAS were primarily female (71%), Caucasian (78%), college educated (65%), and generated the SCP without assistance (76%). YAS reported satisfaction with content (93%) and shared content with providers (71%). A higher proportion of YAS than AS were male (29% vs. 17%, p < 0.001), lived internationally (23% vs. 17%, p = 0.003), and endorsed oncologist-led survivorship care (47% vs. 41%, p = 0.001). YAS reported concerns about neurocognitive performance (56%) and fatigue (50%). Overall, YAS reported equivalent or fewer late effects than AS across all domains. CONCLUSIONS: YAS report high satisfaction with the online SCP, as well as a high symptom burden, although the latter were reported less than for AS.


Asunto(s)
Neoplasias/terapia , Planificación de Atención al Paciente/normas , Medición de Resultados Informados por el Paciente , Adolescente , Adulto , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Masculino , Neoplasias/patología , Supervivencia , Adulto Joven
20.
Support Care Cancer ; 25(8): 2405-2412, 2017 08.
Artículo en Inglés | MEDLINE | ID: mdl-28233121

RESUMEN

PURPOSE: Survivor distress is well represented in the literature, but less is known about survivors' concerns and how these relate to adaptation. Using a newly designed Survivorship Concern Scale, we examined concerns and their relationship to psychosocial adaptation among recent breast cancer (BC) survivors. METHODS: One hundred forty-three stage 0-III BC survivors completed an online assessment including the Survivorship Concern Scale (0-3 scale; alpha = 0.91), unmet needs, quality of life (QoL), and anxiety and depressive symptoms within 1 year of end of treatment. RESULTS: Participants were predominately white (76%), middle-aged (51 years), married (70%), and college educated (79%). Eighty-two percent were stage I or II at diagnosis. Mean degree of survivorship concern was moderate (M = 1.75, SD = 0.70) though variable (range = 0.12-3.00). Survivorship concerns were not significantly related to disease, treatment, or demographic variables except income (p = 0.02). Degree of survivorship concern was significantly associated with all indices of psychosocial adaptation: unmet need (r = 0.50), physical and mental QoL (r = -0.32 and r = -0.32, respectively), depressive symptoms (r = 0.21), and anxiety symptoms (r = 0.51; all p < 0.001). Binary logistic regression suggested that each one-point increase in degree of average concern increased the odds for elevated depressive symptoms by 2.83 (p = 0.03) and increased the odds of elevated anxiety symptoms by 3.69 (p < 0.001). CONCLUSIONS: Survivorship concerns in the year following treatment are moderate but variable. Concerns are associated with QoL, unmet need, and psychosocial adaptation. Adequately addressing concerns may be a way to improve psychosocial outcomes early in the survivorship trajectory.


Asunto(s)
Neoplasias de la Mama/psicología , Medición de Resultados Informados por el Paciente , Calidad de Vida/psicología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Encuestas y Cuestionarios , Tasa de Supervivencia , Sobrevivientes/psicología
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