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Article

Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.

Breast cancer research : BCR - 7 Aug 2018

Penkert Judith, Schmidt Gunnar, Hofmann Winfried, Schubert Stephanie, Schieck Maximilian, Auber Bernd, Ripperger Tim, Hackmann Karl, Sturm Marc, Prokisch Holger, Hille-Betz Ursula, Mark Dorothea, Illig Thomas, Schlegelberger Brigitte, Steinemann Doris

Abstract excerpt

BACKGROUND: Breast cancer is the most prevalent tumor entity in Li-Fraumeni syndrome. Up to 80% of individuals with a Li-Fraumeni-like phenotype do not harbor detectable causative germline TP53 variants. Yet, no systematic panel analyses for a wide range of cancer predisposition genes have been conducted on cohorts of women with breast cancer fulfilling Li-Fraumeni(-like) clinical diagnostic criteria. METHODS: To...

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Source

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Identifiers

PMID: 30086788
DOI: 10.1186/s13058-018-1011-1
PMCID: PMC6081832

Genes

ATM
BRCA1
BRCA2
CHEK2
PALB2
RUNX1

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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