Constitutional variants are not associated with HER2-positive breast cancer: results from the SIGNAL/PHARE clinical cohort - Institut de cancérologie de l'Ouest Access content directly
Journal Articles npj Breast Cancer Year : 2017

Constitutional variants are not associated with HER2-positive breast cancer: results from the SIGNAL/PHARE clinical cohort

1 Hôpital JeanMinjoz
2 ICM - Institut régional de Cancérologie de Montpellier
3 UNICANCER/CRLCC-CGFL - Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon]
4 Oncodesign [Dijon]
5 ICMUB - Institut de Chimie Moléculaire de l'Université de Bourgogne [Dijon]
6 UNICANCER/ICL - Institut de Cancérologie de Lorraine - Alexis Vautrin [Nancy]
7 Département d'oncologie médicale
8 Centre Léon Bérard [Lyon]
9 UNICANCER/ICO - Institut de Cancérologie de l'Ouest [Angers/Nantes]
10 CHU Reims - Hôpital universitaire Robert Debré [Reims]
11 Institut Jean Godinot [Reims]
12 Centre Jean Bernard [Institut Inter-régional de Cancérologie - Le Mans]
13 CLCC Henri Becquerel - Centre de Lutte Contre le Cancer Henri Becquerel Normandie Rouen
14 Service Oncologie Médicale [Grenoble]
15 Pathologie mammaire
16 Service Oncologie Médicale [Saint Priest en Jarez]
17 Service d'Oncologie médicale [CHU Limoges]
18 Centre d'oncologie et de radiothérapie du parc [Dijon]
19 UNICANCER/CAL - Centre de Lutte contre le Cancer Antoine Lacassagne [Nice]
20 CRCM - Centre de Recherche en Cancérologie de Marseille
21 Service d'Oncologie médicale [CHU Caen]
22 Pôle Mutualiste - Service Oncologie Médicale [Saint-Nazaire]
23 Service d’Oncologie Médicale [CHU Lyon Sud]
24 Service d’Onco-Hématologie et Médecine interne [Le Mans]
25 Service d’Oncologie médicale [Orleans]
26 Département d'Oncologie Médicale [Institut Curie, Paris]
27 Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Ponchaillou]
28 INCa - Institut national du cancer
29 CEPH - Fondation Jean Dausset - Centre d’Etudes du Polymorphisme Humain [Paris]
30 CNG - Centre National de Génotypage
31 IGR - Institut Gustave Roussy
32 Direction de la Recherche [Boulogne-Billancourt]
33 SEADACC
34 UNICANCER/CRCL - Centre de Recherche en Cancérologie de Lyon
Xavier Pivot
  • Function : Correspondent author
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Thierry Petit
  • Function : Author
Cécile Agostini
  • Function : Author
Alexia Renaud
  • Function : Author
Gilles Thomas
  • Function : Author

Abstract

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.
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cea-04501580 , version 1 (12-03-2024)

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Xavier Pivot, Gilles Romieu, Pierre Fumoleau, Maria Rios, Hervé Bonnefoi, et al.. Constitutional variants are not associated with HER2-positive breast cancer: results from the SIGNAL/PHARE clinical cohort. npj Breast Cancer, 2017, 3 (1), pp.4. ⟨10.1038/s41523-017-0005-y⟩. ⟨cea-04501580⟩
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