A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer

Pathogenic germline variants in the CHEK2 gene have been shown to cause a moderate increased risk of breast cancer. Here, we present a striking CHEK2 family with a biallelic carrier of two frameshift pathogenic variants, to draw attention and to encourage a comprehensive genetic and cancer risk educ...

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Detalles Bibliográficos
Autores principales: Soleimani, Tahereh, Bourdon, Corrie, Davis, Jacquelyn, Fortes, Thais
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834134/
https://www.ncbi.nlm.nih.gov/pubmed/36644613
http://dx.doi.org/10.1002/ccr3.6820
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author Soleimani, Tahereh
Bourdon, Corrie
Davis, Jacquelyn
Fortes, Thais
author_facet Soleimani, Tahereh
Bourdon, Corrie
Davis, Jacquelyn
Fortes, Thais
author_sort Soleimani, Tahereh
collection PubMed
description Pathogenic germline variants in the CHEK2 gene have been shown to cause a moderate increased risk of breast cancer. Here, we present a striking CHEK2 family with a biallelic carrier of two frameshift pathogenic variants, to draw attention and to encourage a comprehensive genetic and cancer risk education for biallelic carriers of CHEK2 pathogenic variants.
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spelling pubmed-98341342023-01-13 A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer Soleimani, Tahereh Bourdon, Corrie Davis, Jacquelyn Fortes, Thais Clin Case Rep Case Report Pathogenic germline variants in the CHEK2 gene have been shown to cause a moderate increased risk of breast cancer. Here, we present a striking CHEK2 family with a biallelic carrier of two frameshift pathogenic variants, to draw attention and to encourage a comprehensive genetic and cancer risk education for biallelic carriers of CHEK2 pathogenic variants. John Wiley and Sons Inc. 2023-01-11 /pmc/articles/PMC9834134/ /pubmed/36644613 http://dx.doi.org/10.1002/ccr3.6820 Text en © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Soleimani, Tahereh
Bourdon, Corrie
Davis, Jacquelyn
Fortes, Thais
A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer
title A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer
title_full A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer
title_fullStr A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer
title_full_unstemmed A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer
title_short A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer
title_sort case report of biallelic chek2 heterozygous variant presenting with breast cancer
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834134/
https://www.ncbi.nlm.nih.gov/pubmed/36644613
http://dx.doi.org/10.1002/ccr3.6820
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