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. 2020 Apr;97(4):668-669.
doi: 10.1111/cge.13679. Epub 2019 Dec 26.

Is BRCA2 involved in early onset colorectal cancer risk?

Mathilde Gay-Bellile  1   2 , Maud Privat  1   2 , Alexandra Martins  3 , Sandrine M Caputo  4 , Céline Pebrel-Richard  1   5 , Mathias Cavaillé  1   2 , Sandrine Viala  1   2 , Carole Corsini  6 , Michael Rodrigues  7 , Nicolas Barnich  7 , Yannick Bidet  1   2 , Nancy Uhrhammer  1   2 , Yves-Jean Bignon  1   2
Affiliations

Is BRCA2 involved in early onset colorectal cancer risk?

Mathilde Gay-Bellile et al. Clin Genet. 2020 Apr.

Abstract

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.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
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‐bpb and corresponds to the reference BRCA2 transcript and the 150‐bp band corresponds to a BRCA2 transcript lacking exon 26 [Colour figure can be viewed at http://wileyonlinelibrary.com]
See this image and copyright information in PMC

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