Variant Overlooked: A Partial Deficiency TP53 Allele that Skirts Interpretation Criteria
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Co-Author - Lisa A. Lansdon; Co-Author - Florencia Del Viso, PhD; Co-Author - Caitlin Schwager, MS, CGC; Co-Author - Lei Zhang, PhD, FACMG; Co-Author - Sultan Habeebu, MD, PhD; Co-Author - Melissa Gener, MD; Co-Author - Midhat S. Farooqi, MD, PhD; Co-Author - Kevin Ginn, MD; Presenting Author - Joseph T. Alaimo, PhD, FACMG;
Meta Tag
array CGH
Cancer Syndromes
Genetic Testing
NextGen Sequencing
Pathology
Co-Author Lisa A. Lansdon
Co-Author Florencia Del Viso, PhD
Co-Author Caitlin Schwager, MS, CGC
Co-Author Lei Zhang, PhD, FACMG
Co-Author Sultan Habeebu, MD, PhD
Co-Author Melissa Gener, MD
Co-Author Midhat S. Farooqi, MD, PhD
Co-Author Kevin Ginn, MD
Presenting Author Joseph T. Alaimo, PhD, FACMG
Keywords
Li-Fraumeni syndrome
LFS
TP53 gene variants
TP53 variant interpretation
partial deficiency TP53 allele
grade 3 choroid plexus carcinoma
heterozygous missense change
variant of uncertain significance
later-onset LFS spectrum cancers
modification to TP53 VCEP guidelines

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