Random Records

Paper: Exome sequencing of liver fluke-associated cholangiocarcinoma (doi: 10.1038/ng.2273) Point out only the points that I have been interested. Whole exome sequencing: Expected result; -provide insight into mutational landscape contributing to OV-CCA -8 OV-related tumors and matched normal tissue *206 somatic mutations in 187 genes -validate bySangerr sequencing in another 46 cases (prevalent set) to detect recurrently mutated genes (15 genes) Known cancer-related genes: *TP53 -- 44.4% *KRAS -- 16.7% SMAD4 -- 16.7% Somatic mutation in newly identified genes; inactivation mutations *MLL3 -- 14.85% *ROBO2 -- 9.3% *RNF43 -- 9.3% *PEG3 -- 5.65% activating mutation GNAS -- 9.3% These group of gene mutations can be divided; 1. deactivation of histone modifiers 2. activation of G protein signaling 3. loss of genome stability Intro: CCA - *account for 10-25% of all primary liver cancers *western -- 1.5/100,000 in western countries (age-standardiz...

Paper: RNF43 mutations are recurrent in Chinese patients with mucinous ovarian carcinoma but absent in other subtypes of ovarian cancer (doi: 10.1016/j.gene.2013.08.054) Abstract: Fact- *Large scale sequencing identified prevalent RNF43 mutation in pancreatic and ovarian mucinous carcinomas *Exome sequences on RNF43 in 251 Chinese patients with distinct ovarian subtypes *2/15 (13.3%) novel heterozygous nonsynonymous mutation found in mucinous ovarian carcinoma *the mutations is highly conserved *No RNF43-mutated samples contain hotspot mutation in --DICER1 (dicer 1, ribonuclease type III), --PPP2R1A (protein phosphatase 2, regulatory subunit A, alpha), --TRRAP (transformation/transcription domain-associated protein) -- DNMT3A (DNA (cytosine-5-)-methyltransferase 3 alpha) *lack of RNF43 mutation in other subtypes suggest no functional role in that subtype  Intro: Ovarian CA (OVCA) - *heterogeneity malignant *90% of OVCA are epithelial origin *10% of OV...