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Performance of LFSPRO <i>TP53</i> germline carrier risk predictions compared to standard genetic counseling practice on prospectively collected probands

2024-07-10

Abstract excerpt

Genetic counseling and testing for germline mutations are essential for identifying individuals at increased risk for cancer. Pathogenic variants in TP53 are diagnostic of Li-Fraumeni syndrome (LFS), a highly penetrant disorder with diverse, early-onset tumors. Current clinical guidelines, such as Chompret and Classic criteria, provide frameworks for identifying individuals at risk for likely pathogenic/pathogeni...

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Literature Corpus work
1bef4eb0-783e-5dcc-bd94-3c98c7981c77
DOI
10.1101/2024.07.09.24310095
Open publication

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Performance of LFSPRO <i>TP53</i> germline carrier risk predictions compared to standard genetic counseling practice on prospectively collected probandsDOI 10.1101/2024.07.09.24310095
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