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Article

Rare germline variant (rs78378222) in the TP53 3' UTR: Evidence for a new mechanism of cancer predisposition in Li-Fraumeni syndrome.

Cancer genetics - 1 Mar 2016

Macedo Gabriel S, Araujo Vieira Igor, Brandalize Ana Paula, Giacomazzi Juliana, Inez Palmero Edenir, Volc Sahlua, Rodrigues Paixão-Côrtes Vanessa, Caleffi Maira, Silva Alves Michele, Achatz Maria Isabel, Hainaut Pierre, Ashton-Prolla Patricia

Abstract excerpt

Germline mutations in TP53 are the underlying defects in Li-Fraumeni syndrome (LFS) and its variant, Li-Fraumeni-like (LFL) Syndrome, autosomal dominant disorders that are characterized by predisposition to multiple early onset cancers. Here, we identified rs78378222 (A > C), a rare variant that is located in the 3' untranslated region (3' UTR) of TP53, in 7 probands (5.4%) of a cohort from LFS/LFL patients...

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Identifiers

PMID: 26823150
DOI: 10.1016/j.cancergen.2015.12.012

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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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