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Article

The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations.

Orphanet journal of rare diseases - 28 Apr 2014

Silva Amanda G, Krepischi Ana C V, Pearson Peter L, Hainaut Pierre, Rosenberg Carla, Achatz Maria Isabel

Abstract excerpt

BACKGROUND: The Li-Fraumeni syndrome (LFS) is an inherited rare cancer predisposition syndrome characterized by a variety of early-onset tumors. Although germline mutations in the tumor suppressor gene TP53 account for over 50% of the families matching LFS criteria, the lack of TP53 mutation in a...

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Identifiers

PMID: 24775443
DOI: 10.1186/1750-1172-9-63
PMCID: PMC4022048

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24775443-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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