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DNA Mismatch Repair Gene Mosaicism Is Rare in People With Mismatch Repair-Deficient Cancers.

作者信息

Walker Romy, Joo Jihoon E, Mahmood Khalid, Georgeson Peter, Winship Ingrid M, Buchanan Daniel D

机构信息

Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Melbourne, Victoria, Australia; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Melbourne, Victoria, Australia.

Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Melbourne, Victoria, Australia; Victorian Comprehensive Cancer Centre, University of Melbourne Centre for Cancer Research, Melbourne, Victoria, Australia.

出版信息

Gastroenterology. 2025 May;168(5):983-986. doi: 10.1053/j.gastro.2024.12.027. Epub 2025 Jan 7.

DOI:10.1053/j.gastro.2024.12.027
PMID:39788211
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12093059/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1c70/12093059/532482ae257e/nihms-2077496-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1c70/12093059/532482ae257e/nihms-2077496-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1c70/12093059/532482ae257e/nihms-2077496-f0001.jpg

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Fam Cancer. 2023 Oct;22(4):423-428. doi: 10.1007/s10689-023-00337-0. Epub 2023 Jun 15.
2
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.以肿瘤为中心的方法解决 DNA 错配修复缺陷肿瘤的病因学，这些肿瘤被归类为疑似林奇综合征。
J Transl Med. 2023 Apr 26;21(1):282. doi: 10.1186/s12967-023-04143-1.
3
The Prospective Lynch Syndrome Database reports enable evidence-based personal precision health care.
前瞻性林奇综合征数据库报告有助于实现基于证据的个人精准医疗保健。
Hered Cancer Clin Pract. 2020 Mar 14;18:6. doi: 10.1186/s13053-020-0138-0. eCollection 2020.
4
Mosaicism in Patients With Colorectal Cancer or Polyposis Syndromes: A Systematic Review.结直肠癌或息肉病综合征患者中的嵌合体：系统评价。
Clin Gastroenterol Hepatol. 2020 Aug;18(9):1949-1960. doi: 10.1016/j.cgh.2020.02.049. Epub 2020 Mar 5.
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Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer.结直肠癌主要基因和多基因的患病率及外显率
Cancer Epidemiol Biomarkers Prev. 2017 Mar;26(3):404-412. doi: 10.1158/1055-9965.EPI-16-0693. Epub 2016 Oct 31.
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Clin Genet. 2009 Jul;76(1):1-18. doi: 10.1111/j.1399-0004.2009.01230.x.
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Muir-Torre Syndrome: expanding the genotype and phenotype--a further family with a MSH6 mutation.穆尔-托里综合征：基因型和表型的扩展——一个携带MSH6突变的家族
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