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

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 relate...

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Autores principales: Riechelmann, Rachel P, Soares, Diogo C, Dias, Carla, Carraro, Dirce M, Torrezan, Giovana T
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cancer Intelligence 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9934963/
https://www.ncbi.nlm.nih.gov/pubmed/36819813
http://dx.doi.org/10.3332/ecancer.2022.1487
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author Riechelmann, Rachel P
Soares, Diogo C
Dias, Carla
Carraro, Dirce M
Torrezan, Giovana T
author_facet Riechelmann, Rachel P
Soares, Diogo C
Dias, Carla
Carraro, Dirce M
Torrezan, Giovana T
author_sort Riechelmann, Rachel P
collection PubMed
description 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.
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spelling pubmed-99349632023-02-17 Li–Fraumeni-associated pancreatic neuroendocrine tumour and XAF1 p.Glu134Ter risk modifier variant Riechelmann, Rachel P Soares, Diogo C Dias, Carla Carraro, Dirce M Torrezan, Giovana T Ecancermedicalscience Case Report 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. Cancer Intelligence 2022-12-08 /pmc/articles/PMC9934963/ /pubmed/36819813 http://dx.doi.org/10.3332/ecancer.2022.1487 Text en © the authors; licensee ecancermedicalscience. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0 (https://creativecommons.org/licenses/by/4.0/) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Riechelmann, Rachel P
Soares, Diogo C
Dias, Carla
Carraro, Dirce M
Torrezan, Giovana T
Li–Fraumeni-associated pancreatic neuroendocrine tumour and XAF1 p.Glu134Ter risk modifier variant
title Li–Fraumeni-associated pancreatic neuroendocrine tumour and XAF1 p.Glu134Ter risk modifier variant
title_full Li–Fraumeni-associated pancreatic neuroendocrine tumour and XAF1 p.Glu134Ter risk modifier variant
title_fullStr Li–Fraumeni-associated pancreatic neuroendocrine tumour and XAF1 p.Glu134Ter risk modifier variant
title_full_unstemmed Li–Fraumeni-associated pancreatic neuroendocrine tumour and XAF1 p.Glu134Ter risk modifier variant
title_short Li–Fraumeni-associated pancreatic neuroendocrine tumour and XAF1 p.Glu134Ter risk modifier variant
title_sort li–fraumeni-associated pancreatic neuroendocrine tumour and xaf1 p.glu134ter risk modifier variant
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9934963/
https://www.ncbi.nlm.nih.gov/pubmed/36819813
http://dx.doi.org/10.3332/ecancer.2022.1487
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