109P - Genetic influence of EGFR-PI3K-mTOR pathway and other loci in triple-negative breast cancer

Date 10 October 2016
Event ESMO 2016 Congress
Session Poster display
Topics Breast Cancer
Translational Research
Basic Principles in the Management and Treatment (of cancer)
Presenter Carlos Cabrera
Citation Annals of Oncology (2016) 27 (6): 15-42. 10.1093/annonc/mdw363
Authors C. Cabrera1, M.J. Arranz2, M.L. Surralles Calnge3, A. Salas3, X. Tarroch3, L. Ibañez2, A. Garcia4, S. Gonzalez Jimenez1, M. Campayo1, L. Cirera1
  • 1Oncology And Hematology Department, Hospital Univeristari Mutua Terrassa, 08221 - Terrassa/ES
  • 2Fundacio Docència I Recerca Mútua Terrassa, Hospital Univeristari Mutua Terrassa, 08221 - Terrassa/ES
  • 3Pathology Department, Hospital Univeristari Mutua Terrassa, 08221 - Terrassa/ES
  • 4Gynecology And Obstretics Department, Hospital Univeristari Mutua Terrassa, 08221 - Terrassa/ES



Breast cancer (BC) is the most frequent cancer in women. About 15% of all cases account for the most aggressive subtype: triple negative breast cancer (TNBC). TNBC biological heterogeneity has been explained in both gene expression profile studies and genome wide association studies (GWAS). Our study explores the role of single nucleotide polymorphisms (SNP) in TNBC. We hypothesized that new loci can confer risk and prognosis of TNBC, given its well-known tendency to genetic aberrations.


In this retrospective study, we genotyped a group of SNP in 111 paraffin-embedded tumor samples of patients diagnosed with TNBC (cases) and in 176 blood samples of healthy donors (controls). The SNP were selected from 5 genes (MAP3K1, PI3K, TERT, EGFR, and mTOR) known for their implication in TNBC and other types of cancer.


Univariate analysis with chi-square test comparing genotypic frequencies between cases and controls confirmed statistical significance in EGFR rs4947986 (p= 0.001) and TERT rs2736100 (p=


Our study found no prognostic significance of SNP for disease free survival (DFS) or overall survival (OS) in the multivariate analyses including TNM stage, axillary status, treatment (chemotherapy and/or radiotherapy) and age.

Our findings not only confirm the genetic influence of molecular pathways in EGFR, PI3K, mTOR and MAP3K1 but also reveal new loci for development of TNBC.

Having recognized new TERT and EGFR mutations in our cohort encourages us to keep unveiling plausible new pathways on carcinogenesis and treatment targets for TNBC. However, more translational studies are mandatory.

Clinical trial identification

Legal entity responsible for the study

Hospital Universitari Mutua Terrassa-Oncology and Hematology Department


Hospital Universitari Mutua Terrassa


All authors have declared no conflicts of interest.