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An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition

Danièle Muller1*, Etienne Rouleau2, Inès Schultz1, Sandrine Caputo2, Cédrick Lefol2, Ivan Bièche2, Olivier Caron3, Catherine Noguès4, Jean Marc Limacher3, Liliane Demange4, Rosette Lidereau2, Jean Pierre Fricker1 and Joseph Abecassis1

Author Affiliations

1 Division of oncogenetic, Department of Biology and Pathology, Regional Cancer Centre Paul Strauss, BP30042, 67065 Strasbourg, France

2 Oncogenetic laboratory, Institut Curie-Hospital René Huguenin, 92210 Saint Cloud, France

3 Department of oncology, Hôpitaux Universitaires de Strasbourg, 67071 Strasbourg, France

4 Clinical oncogenetic department, Institut Curie-Hospital René Huguenin, 92210 Saint Cloud, France

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BMC Medical Genetics 2011, 12:121  doi:10.1186/1471-2350-12-121

Published: 22 September 2011

Additional files

Additional file 1:

Schematic figure to explain the principle of competitive quantitative PCR (C-QPCR). a) pyrograph (right) and subsequent pyrogram (left) obtained using the two set of primers on exon 2 and exon 3 (full-length transcript) and on exon 2 and exon 4 (delta3-transcript). b) pyrograms of the C-QPCR showing the three levels of delta3-transcript (5%, 20%, 46%). c) sensitivity study of the C-QPCR obtained with a mix of exon2-3 amplicons and exon 2-4 amplicons for a range of delta3-transcript concentrations (5%, 10%, 25%, 50% 75%, 90%). On the × axis, the proportion of delta3-transcripts (exon2-4) in the mix, y axis, pyrosequencing results in % of delta3-transcripts from the C-QPCR.

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Additional file 2:

Illustration of the consequences on proportion of delta3-transcripts and on allelic discrimination, of the three cases: wild-type, moderate (c.68-7T>A) and exclusive (c.316+3delA and exon 3 deletion) expression of exon 3 spliced transcripts. The A/B allelic discrimination panel gives the theoretical percentages of the allele depending on the position of primers that specifically dose the total, the delta3- or the full-length transcripts.

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