Biology of breast cancer during pregnancy using genomic profiling

Hatem A. Azim, Sylvain Brohée, Fedro A. Peccatori, Christine Desmedt, Sherene Loi, Diether Lambrechts, Patrizia Dell'Orto, Samira Majjaj, Vinu Jose, Nicole Rotmensz, Michail Ignatiadis, Giancarlo Pruneri, Martine Piccart, Giuseppe Viale, Christos Sotiriou

Research output: Contribution to journalArticlepeer-review


Breast cancer during pregnancy is rare and is associated with relatively poor prognosis. No information is available on its biological features at the genomic level. Using a dataset of 54 pregnant and 113 non-pregnant breast cancer patients, we evaluated the pattern of hot spot somatic mutations and did transcriptomic profiling using Sequenom and Affymetrix respectively. We performed gene set enrichment analysis to evaluate the pathways associated with diagnosis during pregnancy. We also evaluated the expression of selected cancer-related genes in pregnant and non-pregnant patients and correlated the results with changes occurring in the normal breast using a pregnant murine model. We finally investigated aberrations associated with disease-free survival (DFS). No significant differences in mutations were observed. Of the total number of patients, 18.6% of pregnant and 23% of non-pregnant patients had a PIK3CA mutation. Around 30% of tumors were basal, with no differences in the distribution of breast cancer molecular subtypes between pregnant and non-pregnant patients. Two pathways were enriched in tumors diagnosed during pregnancy: the G protein-coupled receptor pathway and the serotonin receptor pathway (FDR

Original languageEnglish
Pages (from-to)545-554
Number of pages10
JournalEndocrine-Related Cancer
Issue number4
Publication statusPublished - 2014


  • Biology
  • Breast cancer during pregnancy
  • Breast microenvironment
  • Gene expression profiling
  • IGF1
  • Mutations
  • PD1
  • PDL1
  • Young women

ASJC Scopus subject areas

  • Endocrinology
  • Oncology
  • Cancer Research
  • Endocrinology, Diabetes and Metabolism
  • Medicine(all)


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