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Germline Determinants of Esophageal Adenocarcinoma.

作者信息

Lee Minyi, Eng George, Handte-Reinecker Anna, Deshpande Vikram S, Yilmaz Omer H, Gala Manish K

机构信息

Division of Gastroenterology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts; MD-PhD Program, Boston University School of Medicine, Boston, Massachusetts.

Division of Gastroenterology and Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts; David H. Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, Massachusetts.

出版信息

Gastroenterology. 2023 Nov;165(5):1276-1279.e7. doi: 10.1053/j.gastro.2023.07.015. Epub 2023 Jul 26.

DOI:10.1053/j.gastro.2023.07.015
PMID:37507074
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10592248/
Abstract
摘要

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本文引用的文献

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Aneuploidy and a deregulated DNA damage response suggest haploinsufficiency in breast tissues of mutation carriers.非整倍体和失调的 DNA 损伤反应表明突变携带者的乳腺组织中存在杂合不足。
Sci Adv. 2020 Jan 29;6(5):eaay2611. doi: 10.1126/sciadv.aay2611. eCollection 2020 Jan.
2
Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer.切除胰腺癌患者的种系癌症易感性基因变异、体细胞二次打击和生存结局。
Genet Med. 2019 Jan;21(1):213-223. doi: 10.1038/s41436-018-0009-5. Epub 2018 Jul 2.
3
Development and Validation of a Model to Determine Risk of Progression of Barrett's Esophagus to Neoplasia.
发展和验证一个模型以确定 Barrett 食管进展为肿瘤的风险。
Gastroenterology. 2018 Apr;154(5):1282-1289.e2. doi: 10.1053/j.gastro.2017.12.009. Epub 2017 Dec 19.
4
Paired exome analysis of Barrett's esophagus and adenocarcinoma.巴雷特食管与腺癌的配对外显子组分析。
Nat Genet. 2015 Sep;47(9):1047-55. doi: 10.1038/ng.3343. Epub 2015 Jul 20.
5
Incidence of adenocarcinoma among patients with Barrett's esophagus.巴雷特食管患者腺癌的发病率。
N Engl J Med. 2011 Oct 13;365(15):1375-83. doi: 10.1056/NEJMoa1103042.
6
Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression.遗传性弥漫性胃癌综合征进展过程中CDH1基因表观遗传和遗传二次打击的定量分析。
Gastroenterology. 2009 Jun;136(7):2137-48. doi: 10.1053/j.gastro.2009.02.065. Epub 2009 Mar 6.