Clinical and immunophenotypic characteristics of familial leukemia predisposition caused by PAX5 germline variants

Article Hematology

Germline PAX5 mutation predisposes to familial B-cell precursor acute lymphoblastic leukemia

Nicolas Duployez et al.

BLOOD (2021)

Article Biochemistry & Molecular Biology

Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer

Rabea Wagener et al.

Summary: This study identified a portion of pediatric cancer patients carrying pathogenic germline variants through trio whole-exome sequencing, accounting for 13.8% of the cases. Clinical screening also revealed suspicions of underlying cancer predisposition syndrome in some patients, but only a small number were confirmed to have pathogenic variants.

EUROPEAN JOURNAL OF HUMAN GENETICS (2021)

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Article Oncology

Cancer Predisposition Sequencing Reporter (CPSR): A flexible variant report engine for high-throughput germline screening in cancer

Sigve Nakken et al.

Summary: High-throughput germline genetic testing is increasingly valuable in cancer care, and the open-source CPSR computational workflow can generate structured reports highlighting the therapeutic, prognostic, and diagnostic relevance of germline variants in cancer predisposition genes. The tool provides flexibility in selecting genes to include in the report, while maintaining consistency with ACMG standards.

INTERNATIONAL JOURNAL OF CANCER (2021)

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Article Genetics & Heredity