Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutational signature analysis identifies MUTYH deficiency in colorectal cancers and adrenocortical carcinomas.

The Journal of pathology - 1 May 2017

Pilati Camilla, Shinde Jayendra, Alexandrov Ludmil B, Assié Guillaume, André Thierry, Hélias-Rodzewicz Zofia, Ducoudray Romain, Le Corre Delphine, Zucman-Rossi Jessica, Emile Jean-François, Bertherat Jérôme, Letouzé Eric, Laurent-Puig Pierre

Abstract excerpt

Germline alterations in DNA repair genes are implicated in cancer predisposition and can result in characteristic mutational signatures. However, specific mutational signatures associated with base excision repair (BER) defects remain to be characterized. Here, by analysing a series of colorectal cancers (CRCs) using exome sequencing, we identified a particular spectrum of somatic mutations characterized by an...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adrenal Cortex Neoplasms
Share to Adrenocortical Carcinoma

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Colorectal Neoplasms

Share to DNA Glycosylases

Share to DNA, Neoplasm

Share to Germ-Line Mutation

Share to Mice, Knockout

Share to Transcriptome

Source

Identifiers

PMID: 28127763
DOI: 10.1002/path.4880

Genes

MUTYH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutational signature analysis identifies MUTYH deficiency in colorectal cancers and adrenocortical carcinomas.PMID 28127763Read ↗

A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer.Semantic proximity Read ↗

Unraveling the genomic landscape of colorectal cancer through mutational signatures.Semantic proximity Read ↗

Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriersSemantic proximity Read ↗

Pan-Cancer Interrogation of MUTYH Variants Reveals Biallelic Inactivation and Defective Base Excision Repair Across a Spectrum of Solid Tumors.Semantic proximity Read ↗

Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells.Semantic proximity Read ↗

MUTYH-Associated Polyposis: The Irish Experience>.Semantic proximity Read ↗

Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers.Semantic proximity Read ↗

Inherited <i>MUTYH</i> mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cellsSemantic proximity Read ↗

Heterozygous deleterious MUTYH variants as a driver for tumorigenesisSemantic proximity Read ↗

Signatures of mutational processes in human cancer.Semantic proximity Read ↗

Germline haploinsufficiency for the base excision repair gene <i>MUTYH</i> causes mutational signature SBS18 in multiple tumour types, specifically leading to an increased risk of colorectal cancerSemantic proximity Read ↗

First report of medulloblastoma in a patient with MUTYH-associated polyposis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.