Understanding the Pathogenicity of Noncoding Mismatch Repair Gene Promoter Variants in Lynch Syndrome-Reference-Cited by-同舟云学术

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Understanding the Pathogenicity of Noncoding Mismatch Repair Gene Promoter Variants in Lynch Syndrome

Published:2016-03-18 Issue:5 Volume:37 Page:417-426
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Liu Qing¹,Thompson Bryony A.²³,Ward Robyn L.¹⁴,Hesson Luke B.¹,Sloane Mathew A.¹

Affiliation:

1. Adult Cancer Program; Lowy Cancer Research Centre and Prince of Wales Clinical School; UNSW Australia; Sydney New South Wales Australia

2. Huntsman Cancer Institute; University of Utah; Salt Lake City Utah

3. Centre for Epidemiology and Biostatistics; Melbourne School of Population and Global Health; University of Melbourne; Melbourne Victoria Australia

4. Level 3 Brian Wilson Chancellery; The University of Queensland; Brisbane Queensland Australia

Funder

Cancer Institute NSW

Cancer Council NSW

NHMRC Early-Career Fellowship

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference118 articles.

1. Risks of Lynch syndrome cancers for MSH6 mutation carriers;Baglietto;J Natl Cancer Inst,2010

2. Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium;Bakry;Eur J Cancer,2014

3. Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features;Belvederesi;Eur J Hum Genet,2006

4. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project;Birney;Nature,2007

5. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome;Bonadona;JAMA,2011

Cited by 10 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. Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers;Clinical Epigenetics;2023-06-03

2. Risk of cancer in individuals with Lynch-like syndrome and their families: a systematic review;Journal of Cancer Research and Clinical Oncology;2022-10-17

3. Lynch-like Syndrome: Potential Mechanisms and Management;Cancers;2022-02-22

4. WRN Germline Mutation Is the Likely Inherited Etiology of Various Cancer Types in One Iranian Family;Frontiers in Oncology;2021-06-07

5. Comparison of Molecular, Clinicopathological, and Pedigree Differences Between Lynch-Like and Lynch Syndromes;Frontiers in Genetics;2020-08-19

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