{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:49:08Z","timestamp":1791298148339,"version":"4.1.0"},"reference-count":44,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2011,3,14]],"date-time":"2011-03-14T00:00:00Z","timestamp":1300060800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["pathsocjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pathology"],"published-print":{"date-parts":[[2011,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>PALB2 interacts with BRCA1 and BRCA2 in supercomplexes involved in DNA repair via homologous recombination. Heterozygous germline mutations in <jats:italic>PALB2<\/jats:italic> confer a moderate risk of breast cancer, while biallelic <jats:italic>PALB2<\/jats:italic> mutations are linked to a severe form of Fanconi anaemia characterized by early childhood solid tumours and severe chromosomal instability. In contrast to BRCA1\u2010 or BRCA2\u2010associated cancers, breast tumours in heterozygous <jats:italic>PALB2<\/jats:italic> mutation carriers do not show loss of the wild\u2010type allele, suggesting <jats:italic>PALB2<\/jats:italic> might be haploinsufficient for tumour suppression. To study the role of PALB2 in development and tumourigenesis, we have generated <jats:italic>Palb2<\/jats:italic><jats:sup><jats:italic>GT<\/jats:italic><\/jats:sup> mouse mutants using a gene trap approach. Whereas <jats:italic>Palb2<\/jats:italic><jats:sup><jats:italic>GT<\/jats:italic>\/<jats:italic>GT<\/jats:italic><\/jats:sup> homozygous mutant embryos died at mid\u2010gestation due to massive apoptosis, <jats:italic>Palb2<\/jats:italic><jats:sup><jats:italic>GT<\/jats:italic>\/+<\/jats:sup> heterozygous mice were viable and did not show any obvious abnormalities. Deletion of p53 alleviated the phenotype of <jats:italic>Palb2<\/jats:italic><jats:sup><jats:italic>GT<\/jats:italic>\/<jats:italic>GT<\/jats:italic><\/jats:sup> embryos, but did not rescue embryonic lethality. In addition, loss of p53 did not significantly collaborate with <jats:italic>Palb2<\/jats:italic> heterozygosity in tumourigenesis in heterozygous or homozygous <jats:italic>p53<\/jats:italic> knockout mice. Tumours arising in <jats:italic>Palb2<\/jats:italic><jats:sup><jats:italic>GT<\/jats:italic>\/+<\/jats:sup>;<jats:italic>p53<\/jats:italic><jats:sup>+\/\u2212<\/jats:sup> or <jats:italic>Palb2<\/jats:italic><jats:sup><jats:italic>GT<\/jats:italic>\/+<\/jats:sup>;<jats:italic>p53<\/jats:italic><jats:sup>\u2212\/\u2212<\/jats:sup> compound mutant mice retained the wild\u2010type <jats:italic>Palb2<\/jats:italic> allele and did not display increased genomic instability. Copyright \u00a9 2011 Pathological Society of Great Britain and Ireland. Published by John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/path.2861","type":"journal-article","created":{"date-parts":[[2011,1,20]],"date-time":"2011-01-20T09:42:25Z","timestamp":1295516545000},"page":"10-21","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Loss of p53 partially rescues embryonic development of <i>Palb2<\/i> knockout mice but does not foster haploinsufficiency of <i>Palb2<\/i> in tumour 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