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Targeted Sequencing of the Mitochondrial Genome of Women at High Risk of Breast Cancer without Detectable Mutations in BRCA1/2

Sophie Blein 1 Laure Barjhoux 2, 1 Francesca Damiola 1 Marie-Gabrielle Dondon 3 Séverine Eon-Marchais 3 Morgane Marcou 3 Olivier Caron 4 Alain Lortholary 5 Bruno Buecher 6 Philippe Vennin 7 Pascaline Berthet 8, 9 Catherine Noguès 10 Christine Lasset 11 Marion Gauthier-Villars 4 Sylvie Mazoyer 1 Dominique Stoppa-Lyonnet 12, 13 Nadine Andrieu 3 Gilles Thomas 14 Olga Sinilnikova 1, 2 David Cox 1, *
* Corresponding author
1 UNICANCER/CRCL - Centre de Recherche en Cancérologie de Lyon
2 Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents
3 Cancer et génome: Bioinformatique, biostatistiques et épidémiologie d'un système complexe
4 Onco-génétique
Département de médecine oncologique [Gustave Roussy]
5 CCS - Centre Catherine-de-Sienne [Nantes]
6 Institut Curie [Paris]
7 UNICANCER/Lille - Centre Régional de Lutte contre le Cancer Oscar Lambret [Lille]
8 Consultation d'Oncogénétique
9 UNICANCER/CRLC - Centre Régional de Lutte contre le Cancer François Baclesse [Caen]
10 CRLCC René Huguenin
11 Centre Léon Bérard [Lyon]
12 Service de Génétique Oncologique
13 U830 - Unité de génétique et biologie des cancers
14 Université de Lyon
Abstract : Breast Cancer is a complex multifactorial disease for which high-penetrance mutations have been identified. Approaches used to date have identified genomic features explaining about 50% of breast cancer heritability. A number of low-to medium penetrance alleles (per-allele odds ratio < 1.5 and 4.0, respectively) have been identified, suggesting that the remaining heritability is likely to be explained by the cumulative effect of such alleles and/or by rare high-penetrance alleles. Relatively few studies have specifically explored the mito-chondrial genome for variants potentially implicated in breast cancer risk. For these reasons , we propose an exploration of the variability of the mitochondrial genome in individuals diagnosed with breast cancer, having a positive breast cancer family history but testing negative for BRCA1/2 pathogenic mutations. We sequenced the mitochondrial genome of 436 index breast cancer cases from the GENESIS study. As expected, no pathogenic genomic pattern common to the 436 women included in our study was observed. The mitochondrial genes MT-ATP6 and MT-CYB were observed to carry the highest number of variants in the study. The proteins encoded by these genes are involved in the structure of the PLOS ONE |
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INSERM | CNRS | HCL | INSTITUT-TELECOM | CURIE | BACLESSE | LAMBRET | HUGUENIN | FNCLCC | ENSMP_CBIO | UNIV-PARIS5 | UNIV-LYON1 | ENSMP | CRCL | USPC | PARISTECH | IGR | COMUE-NORMANDIE | UDL | UNIV-PARIS | PSL

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Sophie Blein, Laure Barjhoux, Francesca Damiola, Marie-Gabrielle Dondon, Séverine Eon-Marchais, et al.. Targeted Sequencing of the Mitochondrial Genome of Women at High Risk of Breast Cancer without Detectable Mutations in BRCA1/2. PLoS ONE, Public Library of Science, 2015, 10 (9), pp.e0136192. ⟨10.1371/journal.pone.0136192⟩. ⟨inserm-01991386⟩

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