Targeted next-generation sequencing identifies clinically relevant somatic mutations in a large cohort of inflammatory breast cancer

Autor: Sophie Vacher, Ivan Bièche, Virginie Bernard, Anais Boulai, Sylvain Baulande, Céline Callens, Mylène Bohec, Florence Lerebours, Xu Liang
Rok vydání: 2018
Předmět:
Adult
0301 basic medicine
Oncology
medicine.medical_specialty
ARID1A
medicine.medical_treatment
DNA Mutational Analysis
Kaplan-Meier Estimate
lcsh:RC254-282
Inflammatory breast cancer
Targeted therapy
Young Adult
03 medical and health sciences
0302 clinical medicine
Germline mutation
Breast cancer
Surgical oncology
Internal medicine
Genotype
Biomarkers
Tumor
medicine
ROS1
Humans
Breast
Prospective Studies
skin and connective tissue diseases
Aged
Aged
80 and over
business.industry
Somatic mutation
Targeted NGS
High-Throughput Nucleotide Sequencing
Middle Aged
lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens
Prognosis
medicine.disease
030104 developmental biology
030220 oncology & carcinogenesis
Mutation
Female
Inflammatory Breast Neoplasms
business
Follow-Up Studies
Research Article
Zdroj: Breast Cancer Research : BCR
Breast Cancer Research, Vol 20, Iss 1, Pp 1-12 (2018)
ISSN: 1465-542X
Popis: Background Inflammatory breast cancer (IBC) is the most aggressive form of primary breast cancer. Using a custom-made breast cancer gene sequencing panel, we investigated somatic mutations in IBC to better understand the genomic differences compared with non-IBC and to consider new targeted therapy in IBC patients. Methods Targeted next-generation sequencing (NGS) of 91 candidate breast cancer-associated genes was performed on 156 fresh-frozen breast tumor tissues from IBC patients. Mutational profiles from 197 primary breast tumors from The Cancer Genome Atlas (TCGA) were used as non-IBC controls for comparison analysis. The mutational landscape of IBC was correlated with clinicopathological data and outcomes. Results After genotype calling and algorithmic annotations, we identified 392 deleterious variants in IBC and 320 variants in non-IBC cohorts, respectively. IBC tumors harbored more mutations than non-IBC (2.5 per sample vs. 1.6 per sample, p
Databáze: OpenAIRE
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