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Article

Number of rare germline CNVs and TP53 mutation types.

Orphanet journal of rare diseases - 21 Dec 2012

Silva Amanda G, Achatz Isabel Maria W, Krepischi Ana Cv, Pearson Peter L, Rosenberg Carla

Abstract excerpt

BACKGROUND: The Li-Fraumeni syndrome (LFS), an inherited rare cancer predisposition syndrome characterized by a variety of early-onset tumors, is caused by different highly penetrant germline mutations in the TP53 gene; each separate mutation has dissimilar functional and phenotypic effects, which partially clarifies the reported heterogeneity between LFS families. Increases in copy number variation (CNV) have...

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Identifiers

PMID: 23259501
DOI: 10.1186/1750-1172-7-101
PMCID: PMC3558401

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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