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Article

A novel germline TP53 mutation p.Pro190Arg detected in a patient with lung and bilateral breast cancers.

Advances in medical sciences - 1 Sept 2017

Krześniak Małgorzata, Butkiewicz Dorota, Rachtan Jadwiga, Matuszczyk Iwona, Grzybowska Ewa, Rusin Marek

Abstract excerpt

PURPOSE: Li-Fraumeni syndrome (LFS) is a rare genetic disease with strong predispositions to multiple early-onset neoplasms, mostly sarcomas, breast cancers, brain tumors and adrenocortical carcinomas (LFS core cancers). In most LFS families the germline mutations of TP53 tumor suppressor gene were found. Lung cancer does not belong to the core cancers of LFS, however its higher incidence is observed in families...

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Source

Identifiers

PMID: 28499267
DOI: 10.1016/j.advms.2016.12.002

Genes

BAX
MDM2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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