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Journal articles
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
Sophie Blein 1
Author
Laure Barjhoux 2, 1
Author
Francesca Damiola 1
Author
Marie-Gabrielle Dondon 3
Author
Séverine Eon-Marchais 3
Author
Morgane Marcou 3
Author
Olivier Caron 4
Mail : Site :
Author
Alain Lortholary 5
Mail :
Author
Bruno Buecher 6
Author
Philippe Vennin 7
Author
Pascaline Berthet 8, 9
Author
Catherine Noguès 10
Author
Christine Lasset 11
Author
Marion Gauthier-Villars 4
Author
Sylvie Mazoyer 1
Mail :
Author
Dominique Stoppa-Lyonnet 12, 13
Mail :
Author
Nadine Andrieu 3
Mail :
Author
Gilles Thomas 14
Author
Olga Sinilnikova 1, 2
Author
David G Cox 1
Mail :
Correspondent author
1
UNICANCER/CRCL - Centre de Recherche en Cancérologie de Lyon (28, rue Laennec - 69373 Lyon - France)
- Centre Léon Bérard [Lyon] (28, rue Laennec 69373 LYON Cedex 08 - France)
- UCBL - Université Claude Bernard Lyon 1 (43, boulevard du 11 novembre 1918, 69622 Villeurbanne cedex - France)
- Université de Lyon (92 rue Pasteur - CS 30122, 69361 Lyon Cedex 07 - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U1052 (101, rue de Tolbiac, 75013 Paris - France)
- CNRS - Centre National de la Recherche Scientifique : UMR5286 (France)
2
Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents (28 Rue Laennec, 69008 Lyon - France)
- Centre Léon Bérard [Lyon] (28, rue Laennec 69373 LYON Cedex 08 - France)
- HCL - Hospices Civils de Lyon (3 Quai des Célestins 69002 Lyon - France)
3
Cancer et génôme: Bioinformatique, biostatistiques et épidémiologie d'un système complexe (26 rue d'Ulm - 75248 Paris cedex 05 - France)
- MINES ParisTech - École nationale supérieure des mines de Paris (60, boulevard Saint-Michel 75006 Paris - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U900 (101, rue de Tolbiac, 75013 Paris - France)
- Institut Curie [Paris] ( 26 rue d'Ulm - 75248 Paris - France)
4
Onco-génétique (Gustave Roussy. 114, rue Édouard-Vaillant 94805 Villejuif Cedex -France - France)
- Département de médecine oncologique [Gustave Roussy] (Gustave Roussy. 114, rue Édouard-Vaillant 94805 Villejuif Cedex -France - France)
- IGR - Institut Gustave Roussy (114, rue Édouard-Vaillant 94805 Villejuif Cedex -France - France)
5
CCS - Centre Catherine-de-Sienne [Nantes] ( Hopital Du Confluent
2 Rue Éric Tabarly, 44200 Nantes - France)
6
Institut Curie [Paris] ( 26 rue d'Ulm - 75248 Paris - France)
7
UNICANCER/Lille - Centre Régional de Lutte contre le Cancer Oscar Lambret [Lille] (3, rue Frédéric Combemale, 59020 Lille - France)
- UNICANCER (101, rue de Tolbiac, 75654 Paris Cedex 13 - France)
- Université Lille Nord de France (COMUE) (365 bis, rue Jules Guesde BP 50458 - 59658 Villeneuve d’Ascq Cedex - France)
8
Consultation d'Oncogénétique (Caen - France)
- UNICANCER/CRLC - Centre Régional de Lutte contre le Cancer François Baclesse [Caen] (3 avenue général Harris, 14000 Caen - France)
- UNICANCER (101, rue de Tolbiac, 75654 Paris Cedex 13 - France)
- TCBN - Tumorothèque de Caen Basse-Normandie (3 avenue du Général Harris 14076 Caen cedex 5 - France)
- NU - Normandie Université (Esplanade de la Paix - CS 14032 - 14032 Caen Cedex 5 - France)
9
UNICANCER/CRLC - Centre Régional de Lutte contre le Cancer François Baclesse [Caen] (3 avenue général Harris, 14000 Caen - France)
- UNICANCER (101, rue de Tolbiac, 75654 Paris Cedex 13 - France)
- TCBN - Tumorothèque de Caen Basse-Normandie (3 avenue du Général Harris 14076 Caen cedex 5 - France)
- NU - Normandie Université (Esplanade de la Paix - CS 14032 - 14032 Caen Cedex 5 - France)
10
CRLCC René Huguenin (France)
11
Centre Léon Bérard [Lyon] (28, rue Laennec 69373 LYON Cedex 08 - France)
12
Service de Génétique Oncologique (26 rue d'Ulm 75248 Paris cedex 05 - France)
- Institut Curie [Paris] ( 26 rue d'Ulm - 75248 Paris - France)
13
U830 - Unité de génétique et biologie des cancers (Institut Curie
26, rue d'Ulm section de recherche
75248 Paris cedex 05 - France)
- UPD5 - Université Paris Descartes - Paris 5 : UMR_S 830 (12, rue de l'École de Médecine - 75270 Paris cedex 06 - France)
- Institut Curie [Paris] ( 26 rue d'Ulm - 75248 Paris - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U830 (101, rue de Tolbiac, 75013 Paris - France)
14
Université de Lyon (92 rue Pasteur - CS 30122, 69361 Lyon Cedex 07 - France)
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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Journal articles
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https://www.hal.inserm.fr/inserm-01991386
Contributor : Claire Lissalde <>
Submitted on : Wednesday, January 23, 2019 - 6:35:24 PM
Last modification on : Wednesday, June 10, 2020 - 7:22:06 PM
Contributor : Claire Lissalde <>
Submitted on : Wednesday, January 23, 2019 - 6:35:24 PM
Last modification on : Wednesday, June 10, 2020 - 7:22:06 PM
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pone.0136192.pdf
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Identifiers
- HAL Id : inserm-01991386, version 1
- PUBMED : 26406445
- DOI : 10.1371/journal.pone.0136192
- PUBMEDCENTRAL : PMC4583250
Collections
CNRS | HCL | INSTITUT-TELECOM | CURIE | BACLESSE | LAMBRET | HUGUENIN | FNCLCC | ENSMP_CBIO | PSL | UNIV-PARIS5 | UNIV-LYON1 | ENSMP | CRCL | USPC | UNIV-PARIS-SACLAY | PARISTECH | IGR | COMUE-NORMANDIE | UDL
Citation
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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