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1.
Yale J Biol Med ; 88(2): 181-5, 2015 Jun.
Article in English | MEDLINE | ID: mdl-26029016

ABSTRACT

Li-Fraumeni syndrome is a rare cancer predisposition syndrome classically associated with remarkably early onset of cancer in families with a typical spectrum of malignancies, including sarcoma, breast cancer, brain tumors, and adrenocortical carcinoma. Because the risks of cancer development are strikingly high for Li-Fraumeni syndrome, aggressive cancer surveillance is often pursued in these individuals. However, optimal screening methods and intervals for Li-Fraumeni syndrome have yet to be determined. In addition, there may be a significant psychosocial burden to intensive cancer surveillance and some prevention modalities. Here, we describe a case of a young woman with a de novo mutation in TP53 and multiple malignancies, with her most recent cancers found at early, curable stages due to aggressive cancer screening. The potential benefits and risks of intensive cancer surveillance in hereditary cancer syndromes is discussed.


Subject(s)
Early Detection of Cancer/methods , Li-Fraumeni Syndrome/diagnosis , Li-Fraumeni Syndrome/genetics , Neoplasms, Multiple Primary/diagnosis , Neoplasms, Multiple Primary/genetics , Child , Female , Genetic Predisposition to Disease/genetics , Humans , Li-Fraumeni Syndrome/therapy , Neoplasms, Multiple Primary/therapy , Treatment Outcome
2.
JCO Clin Cancer Inform ; 1: 1-10, 2017 11.
Article in English | MEDLINE | ID: mdl-30657377

ABSTRACT

INTRODUCTION: Up to 40% of patients with breast cancer may not adhere to adjuvant endocrine therapy. Therapy-related adverse effects (AEs) are important contributors to nonadherence. We developed a bidirectional text-message application, BETA-Text, that simultaneously tracks adherence, records symptoms, and alerts the clinical team. PATIENTS AND METHODS: We piloted our intervention in 100 patients. The intervention consisted of text messages to which patients responded for 3 months: daily, evaluating adherence; weekly, evaluating medication-related AEs; and monthly, regarding barriers to adherence. Concerning responses prompted a telephone call from a clinic nurse. The primary objective was to assess patient acceptance of this intervention using self-reported surveys. To compare participants with the general population at our institution, we assessed 100 consecutively treated patients as historical controls using medical record review. RESULTS: We approached 141 consecutive patients, 100 (71%) of whom agreed to participate and 89 of whom completed the intervention. A majority of patients reported that the intervention was easy to use (98%) and helpful in taking their medication (96%). Four patients discontinued therapy before 3 months, and 93% of patients who continued therapy took ≥ 80% of their medication. The frequency of AEs reported by participants via text was higher than that reported in clinical trials: hot flashes (72%), arthralgias (53%), and vaginal symptoms (35%). Approximately 39% of patients reported one or more severe AE that prompted an alert to the provider team to call the patient. CONCLUSION: A daily bidirectional text-messaging system can monitor adherence and identify AEs and other barriers to adherence in real time without inconveniencing patients. AEs of endocrine therapy, as detected using this texting approach, are more prevalent than reported in clinical trials.


Subject(s)
Breast Neoplasms/epidemiology , Medication Adherence , Telemedicine , Text Messaging , Antineoplastic Agents, Hormonal/adverse effects , Antineoplastic Agents, Hormonal/therapeutic use , Breast Neoplasms/diagnosis , Breast Neoplasms/drug therapy , Combined Modality Therapy , Disease Management , Female , Humans , Neoplasm Grading , Neoplasm Staging , Patient Reported Outcome Measures , Prognosis , Telemedicine/methods
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