Identification of a BRCA2 mutation in a Turkish family with early‐onset breast cancer

We used a multi‐gene panel testing to identify the germline variants in a mother‐daughter pair with early‐onset breast cancer, and detected one pathogenic protein‐truncating variant in BRCA2. Our results highlight the importance of genetic testing in identifying the pathogenic mutation running in ca...

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Autores principales: Celik, Elifnaz, Ermis Tekkus, Kubra, Akcay, Izzet Mehmet, Alkurt Sal, Gizem, Ezberci, Fikret, Dinler Doganay, Gizem, Doganay, Levent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132100/
https://www.ncbi.nlm.nih.gov/pubmed/30214756
http://dx.doi.org/10.1002/ccr3.1625
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author Celik, Elifnaz
Ermis Tekkus, Kubra
Akcay, Izzet Mehmet
Alkurt Sal, Gizem
Ezberci, Fikret
Dinler Doganay, Gizem
Doganay, Levent
author_facet Celik, Elifnaz
Ermis Tekkus, Kubra
Akcay, Izzet Mehmet
Alkurt Sal, Gizem
Ezberci, Fikret
Dinler Doganay, Gizem
Doganay, Levent
author_sort Celik, Elifnaz
collection PubMed
description We used a multi‐gene panel testing to identify the germline variants in a mother‐daughter pair with early‐onset breast cancer, and detected one pathogenic protein‐truncating variant in BRCA2. Our results highlight the importance of genetic testing in identifying the pathogenic mutation running in cancer families.
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spelling pubmed-61321002018-09-13 Identification of a BRCA2 mutation in a Turkish family with early‐onset breast cancer Celik, Elifnaz Ermis Tekkus, Kubra Akcay, Izzet Mehmet Alkurt Sal, Gizem Ezberci, Fikret Dinler Doganay, Gizem Doganay, Levent Clin Case Rep Case Reports We used a multi‐gene panel testing to identify the germline variants in a mother‐daughter pair with early‐onset breast cancer, and detected one pathogenic protein‐truncating variant in BRCA2. Our results highlight the importance of genetic testing in identifying the pathogenic mutation running in cancer families. John Wiley and Sons Inc. 2018-07-17 /pmc/articles/PMC6132100/ /pubmed/30214756 http://dx.doi.org/10.1002/ccr3.1625 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Celik, Elifnaz
Ermis Tekkus, Kubra
Akcay, Izzet Mehmet
Alkurt Sal, Gizem
Ezberci, Fikret
Dinler Doganay, Gizem
Doganay, Levent
Identification of a BRCA2 mutation in a Turkish family with early‐onset breast cancer
title Identification of a BRCA2 mutation in a Turkish family with early‐onset breast cancer
title_full Identification of a BRCA2 mutation in a Turkish family with early‐onset breast cancer
title_fullStr Identification of a BRCA2 mutation in a Turkish family with early‐onset breast cancer
title_full_unstemmed Identification of a BRCA2 mutation in a Turkish family with early‐onset breast cancer
title_short Identification of a BRCA2 mutation in a Turkish family with early‐onset breast cancer
title_sort identification of a brca2 mutation in a turkish family with early‐onset breast cancer
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132100/
https://www.ncbi.nlm.nih.gov/pubmed/30214756
http://dx.doi.org/10.1002/ccr3.1625
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