XAF1 as a modifier of p53 function and cancer susceptibility.
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ABSTRACT:
SUBMITTER: Pinto EM
PROVIDER: S-EPMC7314530 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Publications
XAF1 as a modifier of p53 function and cancer susceptibility.
Pinto Emilia M EM Figueiredo Bonald C BC Chen Wenan W Galvao Henrique C R HCR Formiga Maria Nirvana MN Fragoso Maria Candida B V MCBV Ashton-Prolla Patricia P Ribeiro Enilze M S F EMSF Felix Gabriela G Costa Tatiana E B TEB Savage Sharon A SA Yeager Meredith M Palmero Edenir I EI Volc Sahlua S Salvador Hector H Fuster-Soler Jose Luis JL Lavarino Cinzia C Chantada Guillermo G Vaur Dominique D Odone-Filho Vicente V Brugières Laurence L Else Tobias T Stoffel Elena M EM Maxwell Kara N KN Achatz Maria Isabel MI Kowalski Luis L de Andrade Kelvin C KC Pappo Alberto A Letouze Eric E Latronico Ana Claudia AC Mendonca Berenice B BB Almeida Madson Q MQ Brondani Vania B VB Bittar Camila M CM Soares Emerson W S EWS Mathias Carolina C Ramos Cintia R N CRN Machado Moara M Zhou Weiyin W Jones Kristine K Vogt Aurelie A Klincha Payal P PP Santiago Karina M KM Komechen Heloisa H Paraizo Mariana M MM Parise Ivy Z S IZS Hamilton Kayla V KV Wang Jinling J Rampersaud Evadnie E Clay Michael R MR Murphy Andrew J AJ Lalli Enzo E Nichols Kim E KE Ribeiro Raul C RC Rodriguez-Galindo Carlos C Korbonits Marta M Zhang Jinghui J Thomas Mark G MG Connelly Jon P JP Pruett-Miller Shondra S Diekmann Yoan Y Neale Geoffrey G Wu Gang G Zambetti Gerard P GP
Science advances 20200624 26
Cancer risk is highly variable in carriers of the common <i>TP53-</i>R337H founder allele, possibly due to the influence of modifier genes. Whole-genome sequencing identified a variant in the tumor suppressor <i>XAF1</i> (E134*/Glu134Ter/rs146752602) in a subset of R337H carriers. Haplotype-defining variants were verified in 203 patients with cancer, 582 relatives, and 42,438 newborns. The compound mutant haplotype was enriched in patients with cancer, conferring risk for sarcoma (<i>P</i> = 0.0 ...[more]
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