期刊
CANCERS
卷 14, 期 3, 页码 -出版社
MDPI
DOI: 10.3390/cancers14030628
关键词
colorectal cancer; genetic predisposition; diagnosis; extracolonic; germline; mosaicism; mTOR polyposis; TGF-beta; WNT
类别
资金
- Fundacio La Marato de TV3 [2019-202008-10]
- Fondo de Investigacion Sanitaria/FEDER [20/00113]
- Fundacion Cientifica de la Asociacion Espanola contra el Cancer [PRYGN211085CAST]
- CERCA Program (Generalitat de Catalunya)
- Agencia de Gestio d'Ajuts Universitaris i de Recerca (Generalitat de Catalunya [GRPRE 2017SGR21]
- Instituto de Salud Carlos III
- COST (European Cooperation in Science and Technology) [CA17118]
Familiarity with nonmalignant features and comorbidities of cancer predisposition syndromes is important for clinicians to diagnose and interpret molecular test results. Genetic predisposition to colorectal cancer should be suspected in young patients, patients with significant family histories, multiple polyps, mismatch repair-deficient tumors, and in association with malignant or nonmalignant comorbidities. This knowledge can raise awareness, enable diagnosis, and assist in the process of genetic testing.
Simple Summary: Familiarity with nonmalignant features and comorbidities of cancer predisposition syndromes may raise awareness and assist clinicians in the diagnosis and interpretation of molecular test results. Genetic predisposition to colorectal cancer (CRC) should be suspected mainly in young patients, in patients with significant family histories, multiple polyps, mismatch repair-deficient tumors, and in association with malignant or nonmalignant comorbidities. The aim of this review is to describe the main nonmalignant comorbidities associated with selected CRC predisposition syndromes that may serve as valuable diagnostic clues for clinicians and genetic professionals.& nbsp;Genetic diagnosis of affected individuals and predictive testing of their at-risk relatives, combined with intensive cancer surveillance, has an enormous cancer-preventive potential in these families. A lack of awareness may be part of the reason why the underlying germline cause remains unexplained in a large proportion of patients with CRC. Various extracolonic features, mainly dermatologic, ophthalmic, dental, endocrine, vascular, and reproductive manifestations occur in many of the cancer predisposition syndromes associated with CRC and polyposis. Some are mediated via the WNT, TGF-beta, or mTOR pathways. However the pathogenesis of most features is still obscure. Here we review the extracolonic features of the main syndromes, the existing information regarding their prevalence, and the pathways involved in their pathogenesis. This knowledge could be useful for care managers from different professional disciplines, and used to raise awareness, enable diagnosis, and assist in the process of genetic testing and interpretation.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据