npj Breast Cancer (Feb 2017)

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

  • Xavier Pivot,
  • Gilles Romieu,
  • Pierre Fumoleau,
  • Maria Rios,
  • Hervé Bonnefoi,
  • Thomas Bachelot,
  • Patrick Soulié,
  • Christelle Jouannaud,
  • Hugues Bourgeois,
  • Thierry Petit,
  • Isabelle Tennevet,
  • David Assouline,
  • Marie-Christine Mathieu,
  • Jean-Philippe Jacquin,
  • Sandrine Lavau-Denes,
  • Ariane Darut-Jouve,
  • Jean-Marc Ferrero,
  • Carole Tarpin,
  • Christelle Lévy,
  • Valérie Delecroix,
  • Véronique Trillet-Lenoir,
  • Oana Cojocarasu,
  • Jérôme Meunier,
  • Jean-Yves Pierga,
  • Cécile Agostini,
  • Pierre Kerbrat,
  • Céline Faure-Mercier,
  • Hélène Blanché,
  • Mourad Sahbatou,
  • Anne Boland,
  • Delphine Bacq,
  • Céline Besse,
  • Fabien Calvo,
  • Alexia Renaud,
  • Jean-François Deleuze,
  • Iris Pauporté,
  • Gilles Thomas,
  • David G. Cox

DOI
https://doi.org/10.1038/s41523-017-0005-y
Journal volume & issue
Vol. 3, no. 1
pp. 1 – 5

Abstract

Read online

Genetics: heredity does not explain HER2 expression A large gene-finding study failed to identify any hereditary factors linked to HER2 expression among women with breast cancer. A team in France led by Xavier Pivot from the University Hospital Center of Besançon, France, analyzed more than 500,000 single DNA letters from a cohort of 8703 patients with breast cancer, 3230 of whom had tumors with high expression of human epidermal growth factor receptor 2 (HER2) and are thus treated with for anti-HER2 targeted therapies. The researchers searched for DNA variants associated with HER2 status, but none reached the threshold for statistical significance. The findings reveal a high level of genetic diversity in women with HER2-positive breast cancer and suggest that HER2 amplification may have more to do with the intrinsic nature of the tumor than with the genetics of the patient.