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Germline Variants in Cancer Predisposing Genes in Young Adults with Neuroendocrine Tumors


Introduction: Advances in genomics have enabled the recognition of new cancer predisposing genes (CPG). There are few studies of CPG in neuroendocrine tumors (NET).

Aim(s): To define the frequency of pathogenic (PV) and probably pathogenic (PPV) germline variants in known CPGs in young adults with NET.

Materials and methods: We prospectively screened consecutive patients (pts) with lung or digestive NET diagnosed under 40 years without known history of cancer hereditary syndromes for germline variants in 113 CPG of high to moderate penetrance. Sequencing was performed through next generation sequencing (NGS -NextSeq 500, Illumina), using a custom panel with IDT LockdownProbes. Alignment and variant calling were performed with the Isaac Enrichment v2.1 tool. Identified variants were filtered by the VarSeq software (Golden Helix) and classified using the American College of Medical Genetics criteria. When PV and PPV were detected in genes without known association with NET, we evaluated related tumors for gene expression alterations and loss of heterozygosis of the wild allele. Clinical data were collected.

Conference: 17th Annual ENETSConcerence (2020)

Presenting Author: Riechelmann R

Authors: Riechelmann R, de Paula C, Donadio M, Barros M, Formiga M,

Keywords: hereditary syndrome, neuroendocrine tumors, germline variants,

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