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Article

A germline mutation in SRRM2, a splicing factor gene, is implicated in papillary thyroid carcinoma predisposition.

Scientific reports - 2 Jul 2015

Tomsic Jerneja, He Huiling, Akagi Keiko, Liyanarachchi Sandya, Pan Qun, Bertani Blake, Nagy Rebecca, Symer David E, Blencowe Benjamin J, de la Chapelle Albert

Abstract excerpt

Papillary thyroid carcinoma (PTC) displays strong but so far largely uncharacterized heritability. Here we studied genetic predisposition in a family with six affected individuals. We genotyped all available family members and conducted whole exome sequencing of blood DNA from two affected individuals. Haplotype analysis and other genetic criteria narrowed our list of candidates to a germline variant in the...

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Share to Alternative Splicing
Share to Carcinoma, Papillary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

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Share to Sequence Analysis, RNA

Share to Thyroid Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 26135620
DOI: 10.1038/srep10566
PMCID: PMC4488885

Genes

SRRM2

Variants

rs149019598

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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