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

Novel p53 splicing site mutation in Li-Fraumeni-like syndrome with osteosarcoma.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Feb 2013

Sakurai Naoto, Iwamoto Shotaro, Miura Yoshihiro, Nakamura Tomoki, Matsumine Akihiko, Nishioka Junji, Nakatani Kaname, Komada Yoshihiro

Abstract excerpt

We describe a 15-year-old girl with a novel germline p53 splice site mutation who developed an osteosarcoma. She received several cycles of chemotherapy with complete resection of the primary tumor without amputation, and has maintained remission for 18 months. Li-Fraumeni-like syndrome was suspected based on familial history. Sequence analysis revealed the presence of a novel germline p53 gene mutation resulting...

Read the complete abstract on PubMed

Topics

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

Share to Bone Neoplasms
Share to Genes, p53

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Markers

Share to Li-Fraumeni Syndrome

Share to Osteosarcoma

Share to Radiography

Share to RNA Splice Sites

Source

Identifiers

PMID: 23409989
DOI: 10.1111/j.1442-200X.2012.03641.x

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel p53 splicing site mutation in Li-Fraumeni-like syndrome with osteosarcoma.PMID 23409989Read ↗

Functional studies of a novel germline p53 splicing mutation identified in a patient with Li-Fraumeni-like syndrome.Semantic proximity Read ↗

A novel, de novo germline TP53 mutation in a rare presentation of the Li-Fraumeni syndrome in the maxilla.Semantic proximity Read ↗

A novel TP53 tandem duplication in a child with Li-Fraumeni syndrome.Semantic proximity Read ↗

Genetic and functional studies of a germline TP53 splicing mutation in a Li–Fraumeni-like familySemantic proximity Read ↗

A first report of a rare TP53 variant associated with Li-Fraumeni syndrome manifesting as invasive breast cancer and malignant solitary fibrous tumor.Semantic proximity Read ↗

Li–Fraumeni‐associated osteosarcomas: The French experienceSemantic proximity Read ↗

Hematologic malignancies in Li-Fraumeni syndrome: A case report.Semantic proximity Read ↗

Novel p53 splice site mutations in three families with Li-Fraumeni syndrome.Semantic proximity Read ↗

Li-Fraumeni associated osteosarcomas: the French experience.Semantic proximity Read ↗

Li-Fraumeni syndrome: a germline TP53 splice variant reveals a novel physiological alternative transcript.Semantic proximity Read ↗

TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome.Semantic proximity Read ↗

Significance of intron 6 sequence variations in the TP53 gene in Li-Fraumeni syndrome.Semantic proximity Read ↗

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