NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas
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Title
NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas
Authors
Keywords
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Journal
Scientific Reports
Volume 9, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2019-06-21
DOI
10.1038/s41598-019-45281-1
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Note: Only part of the references are listed.- NTHL1-associate polyposis: first Australian case report
- (2019) Alexandra Groves et al. Familial Cancer
- Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype
- (2019) Judith E. Grolleman et al. CANCER CELL
- Evidence suggests that germlineRNF43mutations are a rare cause of serrated polyposis
- (2018) Isabel Quintana et al. GUT
- Extending the clinical phenotype associated with biallelic NTHL1 germline mutations
- (2018) Florentia Fostira et al. CLINICAL GENETICS
- Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients—a Systematic Review
- (2017) Peter Broderick et al. GASTROENTEROLOGY
- Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer
- (2016) Daniel Chubb et al. Nature Communications
- A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer
- (2015) Robbert D A Weren et al. NATURE GENETICS
- Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors
- (2015) Barbara Rivera et al. NEW ENGLAND JOURNAL OF MEDICINE
- MutationTaster2: mutation prediction for the deep-sequencing age
- (2014) Jana Marie Schwarz et al. NATURE METHODS
- Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel
- (2011) Abel González-Pérez et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia
- (2011) Xose S. Puente et al. NATURE
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Integrated study of copy number states and genotype calls using high-density SNP arrays
- (2009) Wei Sun et al. NUCLEIC ACIDS RESEARCH
- Human Splicing Finder: an online bioinformatics tool to predict splicing signals
- (2009) François-Olivier Desmet et al. NUCLEIC ACIDS RESEARCH
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