Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum.

doi:10.1200/PO.23.00453

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Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum.

JCO precision oncology - 1 Feb 2024

Fortuno Cristina, Feng Bing-Jian, Carroll Courtney, Innella Giovanni, Kohlmann Wendy, Lázaro Conxi, Brunet Joan, Feliubadaló Lidia, Iglesias Silvia, Menéndez Mireia, Teulé Alex, Ballinger Mandy L, Thomas David M, Campbell Ainsley, Field Mike, Harris Marion, Kirk Judy, Pachter Nicholas, Poplawski Nicola, Susman Rachel, Tucker Kathy, Wallis Mathew, Williams Rachel, Cops Elisa, Goldgar David, James Paul A, Spurdle Amanda B

Abstract excerpt

PURPOSE: Establishing accurate age-related penetrance figures for the broad range of cancer types that occur in individuals harboring a pathogenic germline variant in the TP53 gene is essential to determine the most effective clinical management strategies. These figures also permit optimal use of cosegregation data for classification of TP53 variants of unknown significance. Penetrance estimation can easily be...

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PMID: 38412388
DOI: 10.1200/PO.23.00453
PMCID: PMC10914239

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