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After adjusting for extrahepatic disease and RAS mutation status, we found strong evidence of an independent effect of hepatic tumour burden on risk of mortality (HR 1.08, 95% CI 1.03 1.12, p = 0.0009).
When a given classification algorithm produced posterior probabilities of mutation status, we assigned each variant's mutation status according to the higher posterior probability (Weka's default behavior).
Stratifying patients according to treatment, similar to what was recorded for TP53 mutation status; we found the MDM2 SNP309 309Tgenotypestopes to be associated with inferior RFS and DSS in the paclitaxel (Figure 2C) but not in the epirubicin (Figure 2D) cohort.
In addition to demonstrating discrimination on the basis of mutation status, we wanted to test the strength of the sensor arrays when facing confounding factors.
When analyzing subgroups by grade and mutation status, we find few significant copy number differences between IDHwt lower grade and IDHwt grade IV gliomas.
First, through the resequencing of known cancer genes on a set of cancer cell lines with known mutation status, we were able to evaluate the rediscovery rate.
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To further investigate the clinical relevance of p-PP2A in metastatic CRC we analysed its potential prognostic value by stratifying our cohort based on KRAS mutation status, and we found that p-PP2A retained its prognostic impact in both KRAS wild-type and KRAS mutated subgroups with a similar significance (Supplementary Figure 3).
Additionally, many people who do know they have such a mutation can now take preventive measures (such as Angelina Jolie's recent pre-emptive double mastectomy upon learning her BRCA gene mutation status), and we have no way of knowing whether they would have gone on to develop cancer if these measures had not been taken.
Given that women considering genetic testing often have two or more such factors, it is important that a multivariate model be used for predicting mutation status, as we have done here.
There was no association between the patterns of organ involvement of metastatic disease both at the time of distant metastasis (stage IV) diagnosis and BRAF/NRAS mutation status, although we found non-lung visceral metastases (M1c disease) more common in patients with NRAS-mutant disease.
In our study, 88% of the women had their mutation status confirmed, and we excluded known sporadic cases.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com