Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-07-10

AUTHORS

Laurent Castéra, Valentin Harter, Etienne Muller, Sophie Krieger, Nicolas Goardon, Agathe Ricou, Antoine Rousselin, Germain Paimparay, Angelina Legros, Olivia Bruet, Céline Quesnelle, Florian Domin, Chankannira San, Baptiste Brault, Robin Fouillet, Caroline Abadie, Odile Béra, Pascaline Berthet, French Exome Project Consortium, Thierry Frébourg, Dominique Vaur

ABSTRACT

PurposeIntegration of gene panels in the diagnosis of hereditary breast and ovarian cancer (HBOC) requires a careful evaluation of the risk associated with pathogenic or likely pathogenic variants (PVs) detected in each gene. Here we analyzed 34 genes in 5131 suspected HBOC index cases by next-generation sequencing.MethodsUsing the Exome Aggregation Consortium data sets plus 571 individuals from the French Exome Project, we simulated the probability that an individual from the Exome Aggregation Consortium carries a PV and compared it to the estimated frequency within the HBOC population.ResultsOdds ratio conferred by PVs within BRCA1, BRCA2, PALB2, RAD51C, RAD51D, ATM, BRIP1, CHEK2, and MSH6 were estimated at 13.22 [10.01–17.22], 8.61 [6.78–10.82], 8.22 [4.91–13.05], 4.54 [2.55–7.48], 5.23 [1.46–13.17], 3.20 [2.14–4.53], 2.49 [1.42–3.97], 1.67 [1.18–2.27], and 2.50 [1.12–4.67], respectively. PVs within RAD51C, RAD51D, and BRIP1 were associated with ovarian cancer family history (OR = 11.36 [5.78–19.59], 12.44 [2.94–33.30] and 3.82 [1.66–7.11]). PALB2 PVs were associated with bilateral breast cancer (OR = 16.17 [5.48–34.10]) and BARD1 PVs with triple-negative breast cancer (OR = 11.27 [3.37–25.01]). Burden tests performed in both patients and the French Exome Project population confirmed the association of PVs of BRCA1, BRCA2, PALB2, and RAD51C with HBOC.ConclusionOur results validate the integration of PALB2, RAD51C, and RAD51D in the diagnosis of HBOC and suggest that the other genes are involved in an oligogenic determinism. More... »

PAGES

1677-1686

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  • Identifiers

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    http://scigraph.springernature.com/pub.10.1038/s41436-018-0005-9

    DOI

    http://dx.doi.org/10.1038/s41436-018-0005-9

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1105391019

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/29988077


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