[66,67] Although responses were highly variable, patients with mutations more frequently achieved a clinical response than did those with amplifications, and patients with
tumor mutations affecting exons 11 and 13 were able to achieve significant radiographic responses in over 40 % of cases.
Not exact matches
«One of the major and immediate downstream effects of myc activation is a dramatic increase in the capacity of
affected cells to make protein,» Ruggero said «This, in turn, leads to increased cell survival and proliferation, and to unstable genomes that foster additional
mutations that turn these abnormal cells into
tumor cells.»
«You can see they are very active and
affect the DNA in the
tumor tremendously, causing lots of
mutations that may further the cells» uncontrolled growth, says Alon Keinan, a computational biologist at Cornell University.
Research from other scientists at Johns Hopkins, he says, had suggested that some
tumors, particularly those that
affect the nervous system, have
mutations in the ATRX gene, which produces proteins that appear to maintain the length of telomeres, repetitive segments of DNA on the ends of chromosomes that typically shorten each time a cell divides.
From a basic research perspective, we have found the first example of a
tumor - initiating
mutation that directly
affects how cells divide, causing chromosomal instability.
Together the team will not only be able to provide clarity on which drugs are most effective against
tumors with specific PI3K - pathway
mutations, but how these specific
mutations differentially
affect how the pathway functions.
Their next steps are to characterize how these treatments
affected NK cell function as well as determine the reactivity of patients» T cells against
tumor mutations.
In the next decade, molecular research is going to further develop along five lines: predictive medicine, that investigates the genetic conditions predisposing to
tumor risk; early molecular diagnosis; the evaluation of each patient's prognosis based on his / her genetic profile, in other words, the analysis of what kind of
mutation affects the DNA of altered cells; the investigation of the individual response to drugs, based on our genetic knowledge; «smart drugs», molecules able to hit the target in a selective way, killing only the deprogrammed cells.»
Through her CLIP Grant, she is analyzing patient samples to determine how Poly ICLC (a TLR agonist)
affects the
tumor environment and immune responses against specific
mutations, to identify how Poly ICLC could complement existing immunotherapies.
We observed an average of 14.5 «tier 1» (coding)
mutations per
tumor in the 24 WGS cases; on average, ~ 3 of these
affected recurrently mutated genes in M1
tumors, and ~ 2
affected recurrently mutated genes in M3
tumors.
We are also interested in the interplay of Eph receptor
mutations with
mutations affecting well - established oncogenes and
tumor suppressor genes.
Both
mutations affect the function of CDKN2A, a
tumor suppressor gene associated with melanoma in humans.