Published February 23, 2017
| Version v1
Journal article
Constitutional variants are not associated with HER2-positive breast cancer: results from the SIGNAL/PHARE clinical cohort
Creators
- Pivot, Xavier
- Romieu, Gilles
- Fumoleau, Pierre
- Rios, Maria
- Bonnefoi, Hervé
- Bachelot, Thomas
- Soulié, Patrick
- Jouannaud, Christelle
- Bourgeois, Hugues
- Petit, Thierry
- Tennevet, Isabelle
- Assouline, David
- Mathieu, Marie-Christine
- Jacquin, Jean-Philippe
- Lavau-Denes, Sandrine
- Darut-Jouve, Ariane
- Ferrero, Jean-Marc
- Tarpin, Carole
- Lévy, Christelle
- Delecroix, Valérie
- Trillet-Lenoir, Véronique
- Cojocarasu, Oana
- Meunier, Jérôme
- Pierga, Jean-Yves
- Agostini, Cécile
- Kerbrat, Pierre
- Faure-Mercier, Céline
- Blanché, Hélène
- Sahbatou, Mourad
- Boland, Anne
- Bacq, Delphine
- Besse, Céline
- Calvo, Fabien
- Renaud, Alexia
- Deleuze, Jean-François
- Pauporté, Iris
- Thomas, Gilles
- Cox, David
Contributors
Others:
- Hôpital JeanMinjoz
- Institut régional de Cancérologie de Montpellier (ICM)
- Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL) ; UNICANCER
- Oncodesign [Dijon]
- Institut de Chimie Moléculaire de l'Université de Bourgogne [Dijon] (ICMUB) ; Université de Bourgogne (UB)-Institut de Chimie - CNRS Chimie (INC-CNRS)-Centre National de la Recherche Scientifique (CNRS)
- Institut de Cancérologie de Lorraine - Alexis Vautrin [Nancy] (UNICANCER/ICL) ; UNICANCER
- Département d'oncologie médicale ; Institut Bergonié [Bordeaux] ; UNICANCER-UNICANCER
- Centre Léon Bérard [Lyon]
- Institut de Cancérologie de l'Ouest [Angers/Nantes] (UNICANCER/ICO) ; UNICANCER
- Hôpital universitaire Robert Debré [Reims]
- Institut Jean Godinot [Reims] ; UNICANCER
- Centre Jean Bernard [Institut Inter-régional de Cancérologie - Le Mans]
- Département Automatique, Productique et Informatique (IMT Atlantique - DAPI) ; IMT Atlantique (IMT Atlantique) ; Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)
- Centre de Lutte Contre le Cancer Henri Becquerel Normandie Rouen (CLCC Henri Becquerel)
- Service Oncologie Médicale [Grenoble] ; Institut Daniel Hollard [Grenoble]
- Pathologie mammaire ; Département de médecine oncologique [Gustave Roussy] ; Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR)
- Service Oncologie Médicale [Saint Priest en Jarez] ; Institut de Cancérologie Lucien Neuwirth [Saint Priest en Jarez]
- Service d'Oncologie médicale [CHU Limoges] ; CHU Limoges
- Centre d'oncologie et de radiothérapie du parc [Dijon]
- Centre de Lutte contre le Cancer Antoine Lacassagne [Nice] (UNICANCER/CAL) ; UNICANCER-Université Côte d'Azur (UniCA)
- Centre de Recherche en Cancérologie de Marseille (CRCM) ; Aix Marseille Université (AMU)-Institut Paoli-Calmettes (IPC) ; Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
- Service d'Oncologie médicale [CHU Caen] ; CHU Caen ; Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)
- Service Oncologie Médicale [Saint-Nazaire] (Pôle Mutualiste) ; Centre Etienne Dolet [Saint-Nazaire]
- Service d'Oncologie Médicale [CHU Lyon Sud] ; Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS) ; Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL)
- Service d'Onco-Hématologie et Médecine interne [Le Mans] ; Centre Hospitalier Le Mans (CH Le Mans)
- Service d'Oncologie médicale [Orleans] ; Centre Hospitalier Régional d'Orléans (CHRO)
- Département d'Oncologie Médicale [Institut Curie, Paris] ; Institut Curie [Paris]
- Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Ponchaillou]
- Institut national du cancer (INCa)
- Fondation Jean Dausset - Centre d'Etudes du Polymorphisme Humain [Paris] (CEPH)
- Centre National de Génotypage (CNG) ; Commissariat à l'énergie atomique et aux énergies alternatives (CEA)
- Institut Gustave Roussy (IGR)
- Direction de la Recherche [Boulogne-Billancourt] ; Institut national du cancer (INCa)
- SEADACC
- Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL) ; Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL) ; Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
- French National Cancer Institut (INCa)
Description
Human epidermal growth factor receptor 2-positive breast cancer is a subtype of interest regarding its outcome and the impressive impact of human epidermal growth factor receptor 2 targeted therapy. Constitutional variants may be involved in the aetiology of human epidermal growth factor receptor 2-positive breast cancer, and we propose a case–case study to test the hypothesis that single nucleotide polymorphisms may be associated with human epidermal growth factor receptor 2 status. A Genome-Wide Association Study was used in a cohort of 9836 patients from the SIGNAL/PHARE study (NCT00381901-RECF1098). The main goal was to identify variants specifically related to human epidermal growth factor receptor 2-positive breast cancer. A two-staged genotyping strategy was carried out to cover as large a proportion of the genome as possible. All subjects were genotyped using the Illumina HumanCore Exome chip set. Principal Components Analysis and k -means were then used to characterize the ancestry of the participants. A random sample of subjects from the main "European" cluster was genotyped with the Omni5 chip set. These data were then used to impute missing genotypes from the remaining subjects genotyped only using the HumanCore Exome array. From the 9836 patients, a total of 8703 cases including 3230 patients with human epidermal growth factor receptor 2-positive breast cancer were analyzed. Despite having 80% power to detect an odds ratio of 1.23 in this population, no variant achieved genome-wide significance for association with the occurrence of human epidermal growth factor receptor 2–positive breast cancer vs. any other subtype of breast tumour. Our study was unable to identify constitutional polymorphisms that are strongly associated with human epidermal growth factor receptor 2-positive status among breast cancer patients.
Abstract
International audienceAdditional details
Identifiers
- URL
- https://cea.hal.science/cea-04501580
- URN
- urn:oai:HAL:cea-04501580v1
Origin repository
- Origin repository
- UNICA