CDKN2A Mutation: A Patient's and Physician's Experience.

IF 4.2 3区 医学 Q1 DERMATOLOGY Dermatology and Therapy Pub Date : 2025-02-01 Epub Date: 2025-02-08 DOI:10.1007/s13555-025-01354-w
Yaelle Shaked, Alyssa Swearingen, Tracey N Liebman
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Abstract

This article discusses both the patient's and physician's perspective on the CDKN2A mutation. After an intriguing interview with the patient, the author writes about the patient's feelings, thoughts, and overall experience when he was diagnosed with the CDKN2A mutation. The patient's story discusses what prompted the patient to get tested for the mutation and how the diagnosis later impacted his life and that of his family. The author describes the clinical relevance of the CDKN2A mutation and the current guidelines for testing. The author highlights the need to recognize patients with familial melanomas as high risk and educate the patient on the importance of routine dermatological surveillance.

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CDKN2A突变:病人和医生的经验。
本文讨论了患者和医生对CDKN2A突变的看法。在对患者进行了一次有趣的采访后,作者写下了患者被诊断患有CDKN2A突变时的感受、想法和总体经历。病人的故事讨论了是什么促使他接受突变检测,以及诊断结果后来如何影响了他和他的家人的生活。作者描述了CDKN2A突变的临床相关性和当前的检测指南。作者强调有必要认识到家族性黑色素瘤患者是高风险的,并教育患者进行常规皮肤病学监测的重要性。
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来源期刊
Dermatology and Therapy
Dermatology and Therapy Medicine-Dermatology
CiteScore
6.00
自引率
8.80%
发文量
187
审稿时长
6 weeks
期刊介绍: Dermatology and Therapy is an international, open access, peer-reviewed, rapid publication journal (peer review in 2 weeks, published 3–4 weeks from acceptance). The journal is dedicated to the publication of high-quality clinical (all phases), observational, real-world, and health outcomes research around the discovery, development, and use of dermatological therapies. Studies relating to diagnosis, pharmacoeconomics, public health and epidemiology, quality of life, and patient care, management, and education are also encouraged. Areas of focus include, but are not limited to all clinical aspects of dermatology, such as skin pharmacology; skin development and aging; prevention, diagnosis, and management of skin disorders and melanomas; research into dermal structures and pathology; and all areas of aesthetic dermatology, including skin maintenance, dermatological surgery, and lasers. The journal is of interest to a broad audience of pharmaceutical and healthcare professionals and publishes original research, reviews, case reports/case series, trial protocols, and short communications. Dermatology and Therapy will consider all scientifically sound research be it positive, confirmatory or negative data. Submissions are welcomed whether they relate to an International and/or a country-specific audience, something that is crucially important when researchers are trying to target more specific patient populations. This inclusive approach allows the journal to assist in the dissemination of quality research, which may be considered of insufficient interest by other journals. The journal appeals to a global audience and receives submissions from all over the world.
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