Abstract 138P
Background
The goal of this study is to identify actionable mutations as predictive biomarkers to neoadjuvant chemotherapy response in patients with locally advanced breast cancer.
Methods
This study involved a cohort of 121 somatic exomes where quality analysis were made with tools as FastQC, MultiQC and FastQScreen, then we made an alignment to a reference genome using tools as Burrows-Wheeler-Aligner and Bowtie2, the next step consisted in the variant calling analysis using tools as Genome Analysis Toolkit and Freebayes in order to identify our interest mutations, finally we used BCtools to visualize the genetic variation we found, and we compared them in public databases as Genome in a Bottle and Platinum Genome in a Bottle. The second analysis was to do an CNV´s analysis in order to identify the correlation between gene expression and the presence of CNV´s.
Results
We found different variants related to the increasing of kinase activity in the PI3K pathway, these mutations were present in PIK3CA and were mainly represented by copy number amplifications and copy number losses. We also identified a correlation of CNV´s and the expression of the genes KCNJ3, PEX5L and RBM24. On the other hand we found genetic variations in RB1, ERBB2, NRAS, FGFR, EGFR which also were related to resistance to conventional therapy according to public databases.
Conclusions
Not only mutations in PIK3CA are related to trastuzumab resistance in locally advanced breast cancer patients but also are related to PIK3CA, AKT, PTEN signaling pathways. Added to this we found a correlation between the amount of CNV´s present and gene expression around an amount of genes.
Editorial acknowledgement
Clinical trial identification
Legal entity responsible for the study
National Cancer Institute, Mexico City.
Funding
National Cancer Institute, Mexico City.
Disclosure
All authors have declared no conflicts of interest.
Resources from the same session
72P - Role of pyruvate carboxykinase 2 upregulation in group 3 medulloblastoma: Implications for metabolic reprogramming and therapeutic strategies
Presenter: MEDHA GAYATHRI PAI
Session: Cocktail & Poster Display session
Resources:
Abstract
73P - Effect of combination therapy with atezolizumab plus metformin on peripheral immune cells from NSCLC patients
Presenter: Luisa Amato
Session: Cocktail & Poster Display session
Resources:
Abstract
74P - Obesity regulates tumor progression and sensitivity to checkpoint blockade through the diet-microbiota-immunity axis
Presenter: Lysanne Desharnais
Session: Cocktail & Poster Display session
Resources:
Abstract
75P - Possible significance of the proline at position 325 in the recognition of the MX35 epitope of the NaPi2b transporter by monoclonal antibodies
Presenter: Leisan Bulatova
Session: Cocktail & Poster Display session
Resources:
Abstract
76P - Circadian control of neutrophil extracellular trap formation temporally regulates metastatic lung cancer progression
Presenter: Simon Milette
Session: Cocktail & Poster Display session
Resources:
Abstract
78P - Daily rhythmic expression of pro-tumoral programs in NSCLC shape cancer immunity and therapy response
Presenter: Alba de Juan
Session: Cocktail & Poster Display session
Resources:
Abstract
79P - Tumor cell-released autophagosomes (TRAPs) remodel the breast tumor microenvironment by inducing the formation of inflammatory cancer-associated fibroblasts (CAFs)
Presenter: Chengdong Wu
Session: Cocktail & Poster Display session
Resources:
Abstract
80P - Tumor microenvironment (TME) defines prognosis of EGFR-mutant non-small cell lung cancer (NSCLC)
Presenter: Lodovica Zullo
Session: Cocktail & Poster Display session
Resources:
Abstract
81P - Single-cell spatial landscape of NSCLC reveals subtype specific immune features
Presenter: Mark Sorin
Session: Cocktail & Poster Display session
Resources:
Abstract
82P - Tumor cell-released autophagosomes (TRAPs) promote breast cancer lung metastasis by modulating neutrophil extracellular traps formation
Presenter: XIAOHE ZHOU
Session: Cocktail & Poster Display session
Resources:
Abstract