Familial adenomatous polyposis syndrome: an update and review of extraintestinal manifestations

P Dinarvand, EP Davaro, JV Doan… - … of pathology & …, 2019 - meridian.allenpress.com
Context.—Familial adenomatous polyposis (FAP) is a rare genetic disorder with autosomal
dominant inheritance, defined by numerous adenomatous polyps, which inevitably progress …

NCCN Guidelines® insights: genetic/familial high-risk assessment: colorectal, Version 1.2021: featured updates to the NCCN Guidelines

JM Weiss, S Gupta, CA Burke, L Axell, LM Chen… - Journal of the National …, 2021 - jnccn.org
Identifying individuals with hereditary syndromes allows for timely cancer surveillance,
opportunities for risk reduction, and syndrome-specific management. Establishing criteria for …

Congenital hypertrophy of the retinal pigment epithelium (CHRPE) as a screening marker for familial adenomatous polyposis (FAP): systematic literature review and …

LA Bonnet, RM Conway, LA Lim - Clinical Ophthalmology, 2022 - Taylor & Francis
Purpose Familial adenomatous polyposis (FAP) has an almost 100% colorectal cancer risk
warranting early detection in gene carriers. This study presents congenital hypertrophy of …

Novel Mutation in APC Gene Associated with Multiple Osteomas in a Family and Review of Genotype-Phenotype Correlations of Extracolonic Manifestations in …

C Antohi, D Haba, L Caba, ML Ciofu, VL Drug… - Diagnostics, 2021 - mdpi.com
Gardner syndrome is a neoplasic disease that associates intestinal polyposis and colorectal
adenocarcinoma with osteomas and soft tissue tumors determined by germline mutations in …

Familial adenomatous polyposis in pediatrics: natural history, emerging surveillance and management protocols, chemopreventive strategies, and areas of ongoing …

S Septer, CE Lawson, S Anant, T Attard - Familial Cancer, 2016 - Springer
Familial adenomatous polyposis (FAP) is a hereditary condition with a near 100% lifetime
risk of colorectal cancer without prophylactic colectomy. Most patients with FAP have a …

Стратегия комплексного молекулярно-генетического изучения наследственных форм колоректального рака у российских пациентов

АС Цуканов - 2017 - elibrary.ru
Разработан алгоритм молекулярно-генетического исследования наследственных
форм колоректального рака, обусловленных герминальными мутациями в различных …

In patients with a positive family history of familial adenomatous polyposis can the condition be diagnosed from the presence of congenital hypertrophy of the retinal …

S Rehan, K Aye - Clinical & Experimental Ophthalmology, 2020 - Wiley Online Library
In classic familial adenomatous polyposis (FAP) adenomas become malignant. Congenital
hypertrophy of the retinal pigment epithelium (CHRPE) is a retinal pigmented lesion and is …

Current management of familial adenomatous polyposis

S Lauricella, E Rausa, I Pellegrini… - Expert Review of …, 2024 - Taylor & Francis
Introduction APC-associated polyposis is a rare hereditary disorder characterized by the
development of multiple adenomas in the digestive tract. Individuals with APC-associated …

遗传性结直肠癌临床诊治和家系管理中国专家共识.

袁瑛 - Chinese Journal of Oncology, 2018 - search.ebscohost.com
遗传性结直肠癌根据有无息肉大致可分为2 类, 第1 类是以息肉病为特征, 包括家族性腺瘤性息肉
病(FAP) 等; 第2 类为非息肉病性结直肠癌, Lynch 综合征是其中的重要代表 …

[HTML][HTML] Congenital hypertrophy of retinal pigment epithelium for diagnosis of familial adenomatous polyposis-the first FAP registry in Iran

SK Mirinezhad, F Mousavi, M Baghri… - Asian Pacific journal …, 2018 - ncbi.nlm.nih.gov
Objective: Familial adenomatous polyposis (FAP), an autosomal dominant inherited disorder
is characterized by the presence of multiple adenomatous colorectal polyps, which can …