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Article

Heterozygous mutations in PALB2 cause DNA replication and damage response defects.

Nature communications - 1 Jan 2013

Nikkilä Jenni, Parplys Ann Christin, Pylkäs Katri, Bose Muthiah, Huo Yanying, Borgmann Kerstin, Rapakko Katrin, Nieminen Pentti, Xia Bing, Pospiech Helmut, Winqvist Robert

Abstract excerpt

Besides mutations in BRCA1/BRCA2, heterozygous defects in PALB2 are important in breast cancer predisposition. PALB2 heterozygosity increases the risk of malignancy about sixfold. PALB2 interacts with BRCA1 and BRCA2 to regulate homologous recombination and mediate DNA damage response. Here we show, by analysing lymphoblastoid cell lines from heterozygous female PALB2 mutation carriers, that PALB2...

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Source

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Identifiers

PMID: 24153426
DOI: 10.1038/ncomms3578
PMCID: PMC3826652

Genes

PALB2
BRCA1
BRCA2
ATR

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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