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Is BRCA2 involved in early onset colorectal cancer risk?

A, Closed symbols indicate patients affected with cancer. Open symbols indicate healthy individuals. The type of cancer and age at presentation are given in brackets. Blue circle represents c.4471_4474del variant and red circle represents the c.9648 + 1G > A. B, RNA was extracted from blood of pa...

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Autores principales: Gay‐Bellile, Mathilde, Privat, Maud, Martins, Alexandra, Caputo, Sandrine M., Pebrel‐Richard, Céline, Cavaillé, Mathias, Viala, Sandrine, Corsini, Carole, Rodrigues, Michael, Barnich, Nicolas, Bidet, Yannick, Uhrhammer, Nancy, Bignon, Yves‐Jean
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078894/
https://www.ncbi.nlm.nih.gov/pubmed/31875949
http://dx.doi.org/10.1111/cge.13679
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author Gay‐Bellile, Mathilde
Privat, Maud
Martins, Alexandra
Caputo, Sandrine M.
Pebrel‐Richard, Céline
Cavaillé, Mathias
Viala, Sandrine
Corsini, Carole
Rodrigues, Michael
Barnich, Nicolas
Bidet, Yannick
Uhrhammer, Nancy
Bignon, Yves‐Jean
author_facet Gay‐Bellile, Mathilde
Privat, Maud
Martins, Alexandra
Caputo, Sandrine M.
Pebrel‐Richard, Céline
Cavaillé, Mathias
Viala, Sandrine
Corsini, Carole
Rodrigues, Michael
Barnich, Nicolas
Bidet, Yannick
Uhrhammer, Nancy
Bignon, Yves‐Jean
author_sort Gay‐Bellile, Mathilde
collection PubMed
description A, Closed symbols indicate patients affected with cancer. Open symbols indicate healthy individuals. The type of cancer and age at presentation are given in brackets. Blue circle represents c.4471_4474del variant and red circle represents the c.9648 + 1G > A. B, RNA was extracted from blood of patient III‐3 and his sisters III‐1 and III‐4. RT‐PCR analysis was performed with primers mapping to exons 25 and 27, and PCR products were separated by Bioanalyzer electrophoresis. The sizes of the DNA marker (M) are indicated to the left. LM, lower marker; UM, upper marker. C, Each RT‐PCR product from patient III‐3 was gel‐purified and analyzed by Sanger sequencing. The 297‐bp band corresponds to the reference BRCA2 transcript and the 150‐bp band corresponds to a BRCA2 transcript lacking exon 26.[Image: see text]
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spelling pubmed-70788942020-03-19 Is BRCA2 involved in early onset colorectal cancer risk? Gay‐Bellile, Mathilde Privat, Maud Martins, Alexandra Caputo, Sandrine M. Pebrel‐Richard, Céline Cavaillé, Mathias Viala, Sandrine Corsini, Carole Rodrigues, Michael Barnich, Nicolas Bidet, Yannick Uhrhammer, Nancy Bignon, Yves‐Jean Clin Genet Letters to the Editor A, Closed symbols indicate patients affected with cancer. Open symbols indicate healthy individuals. The type of cancer and age at presentation are given in brackets. Blue circle represents c.4471_4474del variant and red circle represents the c.9648 + 1G > A. B, RNA was extracted from blood of patient III‐3 and his sisters III‐1 and III‐4. RT‐PCR analysis was performed with primers mapping to exons 25 and 27, and PCR products were separated by Bioanalyzer electrophoresis. The sizes of the DNA marker (M) are indicated to the left. LM, lower marker; UM, upper marker. C, Each RT‐PCR product from patient III‐3 was gel‐purified and analyzed by Sanger sequencing. The 297‐bp band corresponds to the reference BRCA2 transcript and the 150‐bp band corresponds to a BRCA2 transcript lacking exon 26.[Image: see text] Blackwell Publishing Ltd 2019-12-26 2020-04 /pmc/articles/PMC7078894/ /pubmed/31875949 http://dx.doi.org/10.1111/cge.13679 Text en © 2019 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://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 Letters to the Editor
Gay‐Bellile, Mathilde
Privat, Maud
Martins, Alexandra
Caputo, Sandrine M.
Pebrel‐Richard, Céline
Cavaillé, Mathias
Viala, Sandrine
Corsini, Carole
Rodrigues, Michael
Barnich, Nicolas
Bidet, Yannick
Uhrhammer, Nancy
Bignon, Yves‐Jean
Is BRCA2 involved in early onset colorectal cancer risk?
title Is BRCA2 involved in early onset colorectal cancer risk?
title_full Is BRCA2 involved in early onset colorectal cancer risk?
title_fullStr Is BRCA2 involved in early onset colorectal cancer risk?
title_full_unstemmed Is BRCA2 involved in early onset colorectal cancer risk?
title_short Is BRCA2 involved in early onset colorectal cancer risk?
title_sort is brca2 involved in early onset colorectal cancer risk?
topic Letters to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078894/
https://www.ncbi.nlm.nih.gov/pubmed/31875949
http://dx.doi.org/10.1111/cge.13679
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