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

Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposis

12 Jan 2018

Abstract excerpt

We read with interest the work by Yan et al published in Gut .1 The serrated (hyperplastic) polyposis syndrome (SPS) is a heterogeneous disease defined by the presence of multiple serrated polyps throughout the colon,2 causing an increased risk (16%) of colorectal cancer (CRC).3 By performing whole-exome sequencing in 20 SPS families, Gala et al identified a germline mutation, c.338C>A (p.R113*), in the RING-type...

Read the complete abstract on PubMed

Topics

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

Share to Colorectal Cancer Screening and Detection
Share to Colorectal Cancer Treatments and Studies
Share to Genetic factors in colorectal cancer

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 29330307
DOI: 10.1136/gutjnl-2017-315733

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposisPMID 29330307Read ↗

Lack of evidence for germline <i>RNF43</i> mutations in patients with serrated polyposis syndrome from a large multinational studySemantic proximity Read ↗

RNF43 mutation analysis in serrated polyposis, sporadic serrated polyps and Lynch syndrome polyps.Semantic proximity Read ↗

Germline pathogenic variants in RNF43 in patients with and without serrated polyposis syndrome.Semantic proximity Read ↗

Comparison between germline and somatic loss-of-function RNF43 mutations reveals different genotype-phenotype associations and provides insights into the genetic mechanisms of colorectal tumourigenesis.Semantic proximity Read ↗

A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindredSemantic proximity Read ↗

RNF43 germline and somatic mutation in serrated neoplasia pathway and its association with BRAF mutation.Semantic proximity Read ↗

Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis SyndromeSemantic proximity Read ↗

Phenotype and polyp landscape in serrated polyposis syndrome: a series of 100 patients from genetics clinics.Semantic proximity Read ↗

RNF43 Is an Early and Specific Mutated Gene in the Serrated Pathway, With Increased Frequency in Traditional Serrated Adenoma and Its Associated Malignancy.Semantic proximity Read ↗

RNF43 pathogenic Germline variant in a family with colorectal cancer.Semantic proximity Read ↗

Clinical subtypes and molecular characteristics of serrated polyposis syndrome.Semantic proximity Read ↗

Impact of loss-of-function mutations at the RNF43 locus on colorectal cancer development and progression.Semantic proximity Read ↗

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