Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing
Author:
Funder
Ministry of Economy and Competitiveness | Instituto de Salud Carlos III
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-019-46403-5.pdf
Reference44 articles.
1. Lucci-Cordisco, E., Risio, M., Venesio, T. & Genuardi, M. The growing complexity of the intestinal polyposis syndromes. Am J Med Genet A 161A, 2777–87 (2013).
2. Mongin, C. et al. Unexplained polyposis: a challenge for geneticists, pathologists and gastroenterologists. Clin Genet 81, 38–46 (2012).
3. Jasperson, K. W., Tuohy, T. M., Neklason, D. W. & Burt, R. W. Hereditary and familial colon cancer. Gastroenterology 138, 2044–58 (2010).
4. Palles, C. et al. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 45, 136–44 (2013).
5. Weren, R. D. et al. A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. Nat Genet 47, 668–71 (2015).
Cited by 11 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Attenuated adenomatous polyposis with MSH6 variation: Two case reports;Medicine;2024-07-05
2. Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision;British Journal of Surgery;2024-05
3. Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel;Genetics in Medicine;2023-10
4. Combined germline and tumor mutation signature testing identifies new families with NTHL1 tumor syndrome;Frontiers in Genetics;2023-08-31
5. Attenuated adenomatous polyposis with MSH6 variation: two case reports;2023-06-26
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3