Article
Somatic intronic TP53 c.375+5G mutations are a recurrent but under-recognized mode of TP53 inactivation.
The journal of pathology. Clinical research - 1 Jan 2022
Chui M Herman, Yang Ciyu, Mehta Nikita, Rai Vikas, Zehir Ahmet, Momeni Boroujeni Amir, Ladanyi Marc, Mandelker Diana
Abstract excerpt
TP53 is one of the most ubiquitously altered genes in human cancer. The biological impact of rare variants, particularly those located within noncoding regions, remains poorly understood. From interrogation of clinical massively parallel sequencing data from over 55,000 tumors, which included 23,330 tumors with known TP53 mutations, TP53 intron 4 nucleotide substitutions at position c.375+5G were identified in 45...
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