Familial adenomatous polyposis: non-surgical management of large bowel disease: endoscopic and chemoprevention strategies.

IF 2 4区 医学 Q3 GENETICS & HEREDITY
Maria Daca-Álvarez, Andrew Latchford, Maria Pellisé, Francesc Balaguer
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引用次数: 0

Abstract

Familial adenomatous polyposis (FAP) is a hereditary disorder caused by constitutional pathogenic variants in the APC gene, leading to the development of up to hundreds of colorectal adenomas and a near-inevitable risk of colorectal cancer (CRC) if untreated. Traditional management relies on prophylactic colectomy, but advances in endoscopic techniques and chemoprevention offer alternative strategies to delay or even avoid surgery. This review explores the role of endoscopic surveillance, polypectomy strategies, and chemopreventive agents in FAP management, evaluating their efficacy, limitations, and the need for personalized approaches.

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家族性腺瘤性息肉病:大肠疾病的非手术治疗:内镜和化学预防策略。
家族性腺瘤性息肉病(FAP)是一种由APC基因的体质致病性变异引起的遗传性疾病,导致多达数百例结直肠腺瘤的发展,如果不治疗,几乎不可避免地存在结直肠癌(CRC)的风险。传统的治疗依赖于预防性结肠切除术,但内窥镜技术和化学预防的进步提供了延迟甚至避免手术的替代策略。这篇综述探讨了内镜监测、息肉切除策略和化学预防药物在FAP治疗中的作用,评估了它们的疗效、局限性和个性化治疗的必要性。
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来源期刊
Familial Cancer
Familial Cancer 医学-遗传学
CiteScore
4.10
自引率
4.50%
发文量
36
审稿时长
6-12 weeks
期刊介绍: In recent years clinical cancer genetics has become increasingly important. Several events, in particular the developments in DNA-based technology, have contributed to this evolution. Clinical cancer genetics has now matured to a medical discipline which is truly multidisciplinary in which clinical and molecular geneticists work together with clinical and medical oncologists as well as with psycho-social workers. Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together focusing on the interests and needs of the clinician. The journal mainly concentrates on clinical cancer genetics. Most major areas in the field shall be included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counselling and the health economics of familial cancer.
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