Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier

BRCA1, c.4096+3A>G was identified in a consanguineous Danish family with several cases of breast/ovarian cancer. In silico analysis and splicing assays indicated that the variant caused aberrant splicing. However, based on segregation data and the finding of a healthy homozygous carrier, we class...

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Detalles Bibliográficos
Autores principales: Byrjalsen, Anna, Steffensen, Ane Y., Hansen, Thomas v. O., Wadt, Karin, Gerdes, Anne‐Marie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5458035/
https://www.ncbi.nlm.nih.gov/pubmed/28588830
http://dx.doi.org/10.1002/ccr3.944
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author Byrjalsen, Anna
Steffensen, Ane Y.
Hansen, Thomas v. O.
Wadt, Karin
Gerdes, Anne‐Marie
author_facet Byrjalsen, Anna
Steffensen, Ane Y.
Hansen, Thomas v. O.
Wadt, Karin
Gerdes, Anne‐Marie
author_sort Byrjalsen, Anna
collection PubMed
description BRCA1, c.4096+3A>G was identified in a consanguineous Danish family with several cases of breast/ovarian cancer. In silico analysis and splicing assays indicated that the variant caused aberrant splicing. However, based on segregation data and the finding of a healthy homozygous carrier, we classify the BRCA1 c.4096+3A>G variant as likely benign.
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spelling pubmed-54580352017-06-06 Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier Byrjalsen, Anna Steffensen, Ane Y. Hansen, Thomas v. O. Wadt, Karin Gerdes, Anne‐Marie Clin Case Rep Case Reports BRCA1, c.4096+3A>G was identified in a consanguineous Danish family with several cases of breast/ovarian cancer. In silico analysis and splicing assays indicated that the variant caused aberrant splicing. However, based on segregation data and the finding of a healthy homozygous carrier, we classify the BRCA1 c.4096+3A>G variant as likely benign. John Wiley and Sons Inc. 2017-04-22 /pmc/articles/PMC5458035/ /pubmed/28588830 http://dx.doi.org/10.1002/ccr3.944 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial (http://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Byrjalsen, Anna
Steffensen, Ane Y.
Hansen, Thomas v. O.
Wadt, Karin
Gerdes, Anne‐Marie
Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier
title Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier
title_full Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier
title_fullStr Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier
title_full_unstemmed Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier
title_short Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier
title_sort classification of the spliceogenic brca1 c.4096+3a>g variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5458035/
https://www.ncbi.nlm.nih.gov/pubmed/28588830
http://dx.doi.org/10.1002/ccr3.944
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