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Challenging interpretation of germline TP53 variants based on the experience of a national comprehen...

Challenging interpretation of germline TP53 variants based on the experience of a national comprehen...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0714ce041823455f9c1ba4a58dc89331

Challenging interpretation of germline TP53 variants based on the experience of a national comprehensive cancer centre

About this item

Full title

Challenging interpretation of germline TP53 variants based on the experience of a national comprehensive cancer centre

Publisher

London: Nature Publishing Group UK

Journal title

Scientific reports, 2023-08, Vol.13 (1), p.14259-14259, Article 14259

Language

English

Formats

Publication information

Publisher

London: Nature Publishing Group UK

More information

Scope and Contents

Contents

TP53
variant interpretation is still challenging, especially in patients with attenuated Li–Fraumeni syndrome (LFS). We investigated the prevalence of pathogenic/likely pathogenic (P/LP) variants and LFS disease in the Hungarian population of cancer patients. By testing 893 patients with multiplex or familial cancer, we identified and functional...

Alternative Titles

Full title

Challenging interpretation of germline TP53 variants based on the experience of a national comprehensive cancer centre

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_0714ce041823455f9c1ba4a58dc89331

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0714ce041823455f9c1ba4a58dc89331

Other Identifiers

ISSN

2045-2322

E-ISSN

2045-2322

DOI

10.1038/s41598-023-41481-y

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