Personalized medicine is a term used to identify a
personalized approach in diagnosis and treatment based on the individual
genetic profile of a patient. In oncology, personalized medicine is
essentially based on the analysis of the genetic profile of a tumor.
It is actually proved that some somatic mutations
in cancer can confer susceptibility or resistance to certain drugs and
that as consequence the patient's treatment can be tailored in order to
obtain a better response (see also PHARMACOGENOMICS). Not only: some of these somatic cancer
mutations are of help in narrowing the histological diagnosis as they
can be typical of certain cellular types and/or cancer growth patterns (histomolecular correlations).
As a collateral effect of their therapeutic and diagnostic relevance,
some somatic mutations may also show a prognostic significance in terms
of association with (1) progression-free survival (PFS) and/or (2) longer/shorter overall survival (OS). Some EGFR gene mutations, for instance, are known to increase sensitivity to the treatment with gefinitinb, whereas some other mutations in the same gene are known to give resistance to that same drug.
These
cancer somatic mutations of crucial therapeutic, diagnostic and/or
prognostic value are sometimes belonging to the pool of the so-called driver mutations. Properly, driver mutations
are mutations which have a fundamental role in cancer genesis and
development. It is because of these driver mutations that a cancer can
thrive and invade the human body. Cancer cells also bear several other
genetic mutations which are thought not to be as important as driver
mutations and which are called passenger mutations. Not all driver mutations can be targetable by a specific drug
and, on the other side, not all somatic mutations with a relevant
diagnostic or prognostic significance can be proved to be driver
mutations, i.e. mutations which drive the growth of the cancer.
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