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Article

Frequency of pathogenic/likely pathogenic germline variants in cancer-related genes among children with acute leukemia in Saudi Arabia.

Pediatric blood & cancer - 1 Jul 2020

Alsultan Abdulrahman, Essa Mohammed, Aljefri Abdullah, Ayas Mouhab, Alharbi Musa, Alkhayat Nawaf, Al-Anzi Faisal, Yassin Fawwaz, Alkasim Fawaz, Alharbi Qasim, Abdullah Shaker, Jastaniah Wasil

Abstract excerpt

BACKGROUND: The frequency of pathogenic/likely pathogenic (P/LP) germline mutations in cancer-related genes among children with cancer in highly consanguineous populations is not well studied. METHODS: Whole-exome sequencing of germline DNA was performed in 60 children with acute leukemia. We used the St. Jude Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE) data portal for the...

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PMID: 32359129
DOI: 10.1002/pbc.28340

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