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Article

A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer.

BMC cancer - 6 Feb 2014

Pradella Laura Maria, Evangelisti Cecilia, Ligorio Claudia, Ceccarelli Claudio, Neri Iria, Zuntini Roberta, Amato Laura Benedetta, Ferrari Simona, Martelli Alberto Maria, Gasparre Giuseppe, Turchetti Daniela

Abstract excerpt

BACKGROUND: An early age at Breast Cancer (BC) onset may be a hallmark of inherited predisposition, but BRCA1/2 mutations are only found in a minority of younger BC patients. Among the others, a fraction may carry mutations in rarer BC genes, such as TP53, STK11, CDH1 and PTEN. As the identification of women harboring such mutations allows for targeted risk-management, the knowledge of associated manifestations...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hamartoma Syndrome, Multiple

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Share to Proto-Oncogene Proteins c-akt

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Source

Open in PubMed Open full text

Identifiers

PMID: 24498881
DOI: 10.1186/1471-2407-14-70
PMCID: PMC3922036

Genes

PTEN
AKT1
BRCA1
CDH1
STK11

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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