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

Co-occurrence of Lynch syndrome and juvenile polyposis syndrome confirmed by multigene panel testing.

Familial cancer - 1 Jan 2018

Silva-Smith Rachel, Sussman Daniel A

Abstract excerpt

Through germline multigene panel testing, we discovered the co-occurrence of Lynch syndrome due to a PMS2 mutation and juvenile polyposis syndrome due to a BMPR1A mutation in a young man with synchronous bladder and colorectal cancers and a family history of colorectal polyps. To our knowledge, this is the first report of an individual having these two hereditary colorectal cancer syndromes. This discovery...

Read the complete abstract on PubMed

Topics

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

Share to Bone Morphogenetic Protein Receptors, Type I
Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Intestinal Polyposis

Share to Mismatch Repair Endonuclease PMS2

Share to Neoplasms, Multiple Primary

Share to Neoplastic Syndromes, Hereditary

Share to Urinary Bladder Neoplasms

Source

Identifiers

PMID: 28600700
DOI: 10.1007/s10689-017-0012-z

Genes

PMS2

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

Co-occurrence of Lynch syndrome and juvenile polyposis syndrome confirmed by multigene panel testing.PMID 28600700Read ↗

SMAD4 mosaicism in juvenile polyposis: Essential contribution of somatic analysis in diagnosis.Semantic proximity Read ↗

Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case reportSemantic proximity Read ↗

Overlap of Juvenile polyposis syndrome and Cowden syndrome due to de novo chromosome 10 deletion involving BMPR1A and PTEN: implications for treatment and surveillance.Semantic proximity Read ↗

Increased Co-Occurrence of Pathogenic Variants in Hereditary Breast and Ovarian Cancer and Lynch Syndromes: A Consequence of Multigene Panel Genetic Testing?Semantic proximity Read ↗

Adenomatous Polyposis Phenotype in BMPR1A and SMAD4 Variant Carriers.Semantic proximity Read ↗

BMPR1A and SMAD4 mutations in juvenile polyposis syndrome: clinicopathological and genetic data from two congolese patientsSemantic proximity Read ↗

A review of juvenile polyposis syndrome.Semantic proximity Read ↗

Establishing a diagnostic road map for MUTYH-associated polyposis.Semantic proximity Read ↗

Mutated MCM9 is associated with predisposition to hereditary mixed polyposis and colorectal cancer in addition to primary ovarian failure.Semantic proximity Read ↗

Juvenile polyposis syndrome in children: The impact of SMAD4 and BMPR1A mutations on clinical phenotype and polyp burden.Semantic proximity Read ↗

Germline bone morphogenesis protein receptor 1A mutation causes colorectal tumorigenesis in hereditary mixed polyposis syndrome.Semantic proximity Read ↗

A patient with four metachronous cancers and multiple adenomatous colon polyps harboring the American Founder Lynch syndrome mutation: a case reportSemantic proximity Read ↗

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