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Kim SY, Im K, Park SN et al. CALR, JAK2, and MPL mutation profiles in patients with four different subtypes of myeloproliferative neoplasms: primary myelofibrosis, essential thrombocythemia, polycythemia vera, and myeloproliferative neoplasm, unclassifiable.
In a previous report of JAK2 mutation profiles in a series of >10,000 patient samples, we described detection of a novel deletion of JAK2 exon 14 (Δexon14) along with other JAK2 mutations in exons 12 through 15, using bi-directional mRNA sequencing technology [7].
This heterogeneity may reflect different cells of origin and/or different mutation profiles in these cells.
47 Hence, further studies are needed to clarify mutation profiles in NK/T-cell lymphoma.
We report the results of retrospective investigation designed to help define the role of tumour mutation profiles in the management of patients with mCRC.
Overall, these meta-analyses demonstrate that mutation profiles in NSCLC are heavily influenced by tumor histology, and the ethnicity and smoking history of patients.
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Mutation profiling in mice provides direct evidence that somatic AR variants are selected by therapy, a finding validated in human metastases from distinct treatment groups.
Taffon, S, Genovese, D, Blasi, M, Pierotti, P, Degli Esposti, A, Catone, S, Chionne, P, Pulimanti, B, Candido, A, Dettori, S, Tosti, ME, Argentini, C, Mazzotta, F, and Rapicetta, M. "HBV whole-genome mutation profile in HIV-1/HBV coinfected patients in a long-term follow-up study". Infection 42, no. 4 (August 2014): 675-687.
We report the implementation of a genotyping and validation algorithm that enables robust tumor mutation profiling in the clinical setting.
To facilitate cancer gene mutation profiling in clinical tumor specimens, we developed OncoMap, a panel of genotyping assays that assessed 396 unique mutations in 33 cancer genes.
In summary, this study represents the first large-scale application of the OncoMap platform for tumor mutation profiling in the clinical and archival setting.
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