Med Sci (Basel). 2020 Mar 23;8(1). doi: 10.3390/medsci8010018.
Breast Cancer: A Molecularly Heterogenous Disease Needing Subtype-Specific Treatments.
Medical sciences (Basel, Switzerland)
Ugo Testa, Germana Castelli, Elvira Pelosi
Affiliations
Affiliations
- Department of Oncology, Istituto Superiore di Sanità , Regina Elena 299, 00161 Rome,Italy.
PMID: 32210163
PMCID: PMC7151639 DOI: 10.3390/medsci8010018
Abstract
Breast cancer is the most commonly occurring cancer in women. There were over two-million new cases in world in 2018. It is the second leading cause of death from cancer in western countries. At the molecular level, breast cancer is a heterogeneous disease, which is characterized by high genomic instability evidenced by somatic gene mutations, copy number alterations, and chromosome structural rearrangements. The genomic instability is caused by defects in DNA damage repair, transcription, DNA replication, telomere maintenance and mitotic chromosome segregation. According to molecular features, breast cancers are subdivided in subtypes, according to activation of hormone receptors (estrogen receptor and progesterone receptor), of human epidermal growth factors receptor 2 (HER2), and or BRCA mutations. In-depth analyses of the molecular features of primary and metastatic breast cancer have shown the great heterogeneity of genetic alterations and their clonal evolution during disease development. These studies have contributed to identify a repertoire of numerous disease-causing genes that are altered through different mutational processes. While early-stage breast cancer is a curable disease in about 70% of patients, advanced breast cancer is largely incurable. However, molecular studies have contributed to develop new therapeutic approaches targeting HER2, CDK4/6, PI3K, or involving poly(ADP-ribose) polymerase inhibitors for BRCA mutation carriers and immunotherapy.
Keywords: biomarkers; breast cancer; cancer; cancer genomics; target therapy
Conflict of interest statement
The authors declare no conflict of interest.
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