Journal article

Genotype-phenotype correlations among TP53 carriers: Literature review and analysis of probands undergoing multi-gene panel testing and single-gene testing

Cristina Fortuno, Tina Pesaran, Jessica Mester, Jill Dolinsky, Amal Yussuf, Kelly McGoldrick, Paul A James, Amanda B Spurdle

Cancer Genetics | ELSEVIER SCIENCE INC | Published : 2020


Pathogenic germline variants in the TP53 gene predispose to a wide range of cancers, known collectively as Li-Fraumeni syndrome (LFS). There has been much research aimed to identify genotype-phenotype correlations, that is, differences between variant location and/or effect and cancer spectrum. These correlations, should they exist, have potential to impact clinical management of carriers. Review of previously published studies showed a variety of study designs and inconsistency in reported findings. Here, we used pooled data from 427 TP53 carriers who had undergone multigene panel testing and 154 TP53 carriers identified by single-gene testing to investigate correlations between TP53 genoty..

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Awarded by Australian National Health and Medical Research funding

Funding Acknowledgements

The work of C.F. was supported by a University of Queensland (UQ) International Scholarship from the UQ School of Medicine. The work of A.B.S. was supported by Australian National Health and Medical Research funding (ID1061779, ID1161589).