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Li-Fraumeni-associated pancreatic neuroendocrine tumour and XAF1 p.Glu134Ter risk modifier variant.

ABSTRACT: Studies have demonstrated that up to 17% of patients with pancreatic neuroendocrine tumours (pNETs) present pathogenic germline variants (PGVs) in several different genes, irrespective of family cancer history. Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition syndrome related to PGVs in the TP53 gene. A previous case of a pNET associated with LFS (c.1009C > T, p.R337C) has been reported. Here we report the first case of a patient with pNET and TP53 p.R337H and XAF1 p.E134* germline variants, expanding the knowledge of LFS and germline mutations in neuroendocrine tumours.

SUBMITTER: Riechelmann RP

PROVIDER: S-EPMC9934963 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

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Li-Fraumeni-associated pancreatic neuroendocrine tumour and XAF1 p.Glu134Ter risk modifier variant.

Riechelmann Rachel P RP Soares Diogo C DC Dias Carla C Carraro Dirce M DM Torrezan Giovana T GT

Ecancermedicalscience 20221208

Studies have demonstrated that up to 17% of patients with pancreatic neuroendocrine tumours (pNETs) present pathogenic germline variants (PGVs) in several different genes, irrespective of family cancer history. Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition syndrome related to PGVs in the TP53 gene. A previous case of a pNET associated with LFS (c.1009C > T, p.R337C) has been reported. Here we report the first case of a patient with pNET and TP53 p.R337H ...[more]

PMID: 36819813

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The first pancreatic neuroendocrine tumor in Li-Fraumeni syndrome: a case report.

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| S-EPMC7106707 | biostudies-literature

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Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family.

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A Novel Variant in the TP53 Gene Causing Li-Fraumeni Syndrome.

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