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Article

A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts.

Familial cancer - 1 Jan 2009

Sjursen Wenche, Bjørnevoll Inga, Engebretsen Lars F, Fjelland Kristine, Halvorsen Tore, Myrvold Helge E

Abstract excerpt

Turcot syndrome is a rare, inherited disease predisposing of tumours in the central nerve system and in the colorectal system. This report describes a Turcot patient with an extraordinary clinical history. The patient is still alive at the age of 43. She was operated at the age of 10 by brain tum...

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Source

Identifiers

PMID: 19039682
DOI: 10.1007/s10689-008-9225-5

Genes

PMS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19039682-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts.PMID 19039682Read ↗

Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 geneSemantic proximity Read ↗

Germline hMSH2 and differential somatic mutations in patients with Turcot's syndrome.Semantic proximity Read ↗

Mutations of the adenomatous polyposis coli and p53 genes in a child with Turcot's syndrome.Semantic proximity Read ↗

Drastic genetic instability of tumors and normal tissues in Turcot syndromeSemantic proximity Read ↗

The hPMS2 exon 5 mutation and malignant glioma. Case report.Semantic proximity Read ↗

Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.Semantic proximity Read ↗

Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.Semantic proximity Read ↗

Turcot syndrome confirmed with molecular analysis.Semantic proximity Read ↗

Molecular analysis of astrocytoma associated with Turcot syndrome type 1--case report.Semantic proximity Read ↗

A novel APC gene mutation associated with a severe phenotype in a patient with Turcot syndrome.Semantic proximity Read ↗

Molecular alterations in a patient with Turcot's syndrome.Semantic proximity Read ↗

Molecular assessment of clonality leads to the identification of a new germ line TP53 mutation associated with malignant cystosarcoma phyllodes and soft tissue sarcoma.Semantic proximity Read ↗

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