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

A comprehensive characterization of the spectrum of MUTYH germline pathogenic variants in Latin America.

Familial cancer - 1 Nov 2024

Esperon Patricia, Neffa Florencia, Pavicic Walter, Spirandelli Florencia, Alvarez Karin, Mullins María José, Rossi Benedito Mauro, Góngora E Silva Rodrigo Felipe, Vaccaro Carlos, Lopéz-Köstner Francisco, Rugeles Jorge, Valle Adriana Della, Dominguez-Valentin Mev

Abstract excerpt

MUTYH-Associated Polyposis (MAP) is caused by biallelic pathogenic germline variants in the MUTYH gene. However, individuals harboring monoallelic MUTYH pathogenic variants in the presence of a positive family history have been reported to have a twofold increased risk of colorectal cancer (CRC) and extra colonic cancers. Our aim was to characterize the spectrum of monoallelic and biallelic germline MUTYH...

Read the complete abstract on PubMed

Topics

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

Share to Adenomatous Polyposis Coli
Share to Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Aged, 80 and over

Share to Colorectal Neoplasms

Share to DNA Glycosylases

Share to Genetic Predisposition to Disease

Share to Germ-Line Mutation

Share to Latin America

Source

Identifiers

PMID: 38687439
DOI: 10.1007/s10689-024-00382-3

Genes

MUTYH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A comprehensive characterization of the spectrum of MUTYH germline pathogenic variants in Latin America.PMID 38687439Read ↗

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

[MUTYH-associated polyposis: Review and update of the French recommendations established in 2012 under the auspices of the National Cancer Institute (INCa)].Semantic proximity Read ↗

Prevalence and Distribution of MUTYH Pathogenic Variants, Is There a Relation with an Increased Risk of Breast Cancer?Semantic proximity Read ↗

Phenotype Correlations With Pathogenic DNA Variants in the MUTYH Gene: A Review of Over 2000 CasesSemantic proximity Read ↗

Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study.Semantic proximity Read ↗

Frequency of the common germline MUTYH mutations p.G396D and p.Y179C in patients diagnosed with colorectal cancer in Southern Brazil.Semantic proximity Read ↗

Novel variant of unknown significance in MUTYH in a patient with MUTYH-associated polyposis: a case to reclassify.Semantic proximity Read ↗

MUTYH-associated tumor syndrome: The other face of MAP.Semantic proximity Read ↗

Phenotype correlations with pathogenic DNA variants in the<i>MUTYH</i>geneSemantic proximity Read ↗

Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures.Semantic proximity Read ↗

MUTYH-associated polyposis.Semantic proximity Read ↗

Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.Semantic proximity Read ↗

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