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Titlebook: Hereditary Colorectal Cancer; Genetic Basis and Cl Laura Valle,Stephen B. Gruber,Gabriel Capellá Book 2018 Springer International Publishin

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发表于 2025-3-21 17:52:28 | 显示全部楼层 |阅读模式
书目名称Hereditary Colorectal Cancer
副标题Genetic Basis and Cl
编辑Laura Valle,Stephen B. Gruber,Gabriel Capellá
视频videohttp://file.papertrans.cn/426/425840/425840.mp4
概述Comprehensive and updated coverage of the topic.Novel findings and challenges discussed.Provides coverage of issues ranging from genetics to clinical description of the syndromes
图书封面Titlebook: Hereditary Colorectal Cancer; Genetic Basis and Cl Laura Valle,Stephen B. Gruber,Gabriel Capellá Book 2018 Springer International Publishin
描述.This book provides information on a wide variety of  issues ranging from genetics to clinical description of the syndromes, genetic testing and counseling, and clinical management including surveillance, surgical and prophylactic interventions, and chemoprevention. Moreover, current hot issues, such as the identification of novel causal genes and the challenges we face, and the relevance of cancer risk modifiers, both genetic and environmental, are also discussed.  .This reference book is great for geneticists, oncologists, genetic counselors, researchers, clinicians, surgeons and nurses dedicated to, or interested in,  hereditary cancer.  The best and most recognized experts in the field have contributed to this project, guaranteeing updated information, accuracy and the discussion of topical issues..
出版日期Book 2018
关键词epigenetics; genetic variants; polyposis; mutation; gene; Modifiers
版次1
doihttps://doi.org/10.1007/978-3-319-74259-5
isbn_softcover978-3-030-08948-1
isbn_ebook978-3-319-74259-5
copyrightSpringer International Publishing AG, part of Springer Nature 2018
The information of publication is updating

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发表于 2025-3-21 20:33:53 | 显示全部楼层
The Molecular Basis of Lynch-like Syndromepathogenic germline mutation has been identified. Patients and their first-degree relatives are considered to have an intermediate risk of developing cancer between LS and the general population..In this chapter, we aimed to review the most promising work in the area. Double somatic variants in MMR
发表于 2025-3-22 00:40:50 | 显示全部楼层
Constitutional Mismatch Repair Deficiency malignancies in childhood. This recessively inherited condition is named CMMRD for constitutional mismatch repair deficiency. The spectrum of tumours is distinct from LS. Malignant brain tumours are at least as frequent as gastrointestinal tumours, and in more than a third of cases, haematological
发表于 2025-3-22 06:20:28 | 显示全部楼层
Mismatch Repair-Proficient Hereditary Nonpolyposis Colorectal Cancerle defects in the DNA mismatch repair (MMR) system; more specifically, these patients have no germline mutations in the MMR genes and, therefore, no tumor microsatellite instability or loss of immunohistochemical staining of MMR proteins. The proportion of nonpolyposis CRC families without MMR defec
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Genetic and Environmental Modifiers of Cancer Risk in Lynch Syndromeximately 1 in 280 (0.35%) of the population are estimated to carry a pathogenic mutation in one of these genes. However, penetrance (age-specific cancer risk) estimates for mutation carriers have been found to vary substantially depending on person’s sex and which gene is mutated. Further, penetranc
发表于 2025-3-22 16:20:36 | 显示全部楼层
Adenomatous Polyposis Syndromes: Introductionancer (CRC), unless detected early. Currently, at least five different inherited forms can be delineated by molecular genetic analyses. Although all types are defined by multiple adenomas which result in a similar diagnostic and therapeutic approach, a significant clinical variability in terms of nu
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发表于 2025-3-22 21:52:55 | 显示全部楼层
Adenomatous Polyposis Syndromes: Polymerase Proofreading-Associated Polyposisnd . have been found to be a rare cause of multiple colorectal adenomas and carcinomas. This condition is known as polymerase proofreading-associated polyposis (PPAP). The EDM of . is also somatically mutated in ~1% of colorectal cancers (CRCs) and ~8% of endometrial cancers. In this chapter we will
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Adenomatous Polyposis Syndromes: NTHL1-Associated Polyposis / Tumor Syndromeed individuals have been described. Most had between 10 and 50 adenomas and two thirds had already developed CRC. Other cancers described include breast and endometrial cancer. In this chapter the clinical characteristics, genetics, tumor characteristics, and prevalence will be discussed.
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