et al. Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. Hum. Mutat. 32(1), 33–43 (2011). 62. Linari, M., Hanzal-Bayer, M. & Becker, J. The delta subunit of rod specific cyclic GMP phosphodiesterase, PDE δ , interacts with...
Analysis of MLH1 based on his blood sample revealed no germline mutation or large genomic deletion. No methylation of the promoter was identified in tumoral DNA. No transversion mutations were identified in APC or KRAS in tumor DNA of this patient. Loss of expression of MLH1 was due to a ...
et al. Germline KRAS and BRAF mutations in cardio-facio-cutaneous (CFC) syndrome. Nature Genet. 12 February 2006 (doi:10.1038/ng1749) FURTHER READING Tartaglia, M. et al. Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-...
Whole genome sequencing (WGS) of leukemic blasts (BP sample), the MPN clone (CP sample), and germline control (T-cells or buccal DNA) was performed to identify somatic mutations. We detected somatic mutations at BP in 19 genes recurrently mutated in myeloid leukemia (ML) with an average ...
Olaparib Lynparza 0310-0657-58 (AZ) 12/19/14 Treatment as monotherapy in patients with germline mutations in BRCA in advanced ovarian cancer treated with three or more previous lines of chemotherapy D No Panobinostat Farydak 0078-0650-06 (Novartis) 2/23/15 In combination with bortezomib and ...
When SH2 domain profiles were examined using unsupervised clustering, we could observe groups of cells based on SH2 binding patterns with some clusters correlated with EGFR or KRAS mutation status. Amongst cells displaying identical histology and presence of activating EGFR mutations, we could observe...
and that subsequent driver gene mutations eventually led to invasive pancreatic cancer. We estimate that this multi-step progression generally spans many years. These new data reframe the step-wise progression model of pancreatic cancer by illustrating that independent, high-grade pancreatic precursor les...
et al. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science 26 January 2006 (10.1126/science.1124642) Niihori, T. et al. Germline KRAS and BRAF mutations in cardio-facio-cutaneous (CFC) syndrome. Nature Genet. 12 February 2006 (10.1038/ng1749) ...
Figure 2. Common mutations in adenocarcinoma (ADC) and squamous cell carcinoma (SCC). KRAS, LKB1 and EGFR mutations are predominantly found in ADC while FGFR, PIK3CA, and PTEN are common in SCC. TP53 is common in both with 52% and 79% in ADC and SCC, respectively. Data taken from [5...
In total, 14 recurrent variants, including TP53 and KRAS hotspot mutations, were analysed in plasma using ddPCR mutation assays (Figure 7, Tables S3 and S7). T1h8eoffal2s6e- positive rate for the ddPCR assays ranged between 0 and 0.06 VAF%. The total number of cell-free DNA copies per...