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: Reversing effect of ring finger protein 43 inhibition on malignant phenotypes of human hepatocellular carcinoma (doi: 10.1158/1535-7163.MCT-12-0672) Abstract: Gap- role of RNF43 in hepatocellular carcinoma is unk RNF43 is overexpressed in HCC and correlate *vascular invasion *poor tumor differentiation *advanced tumor stage Functional study (knock down): *induce apoptosis *inhibit proliferation *inhibit invasion *inhibit proliferation *inhibit colony formation *inhibit xerograft growth Microarray results: *229 genes different between KD and Vector *analysis of 229 genes involves many cellular process: -- cell proliferation -- cell adhesion -- cell motility -- cell death -- DNA repair -- etc. Suggested therapy: since RNF43 is related to tumorigenesis, it could be the drug target to treat HCC ---- Gap: there is the study of RNF43 on the colorectal cancer but not HCC ---- Finding: 1. RNF43 is highly expressed in the HCC and related to p...

Paper: Analysis of somatic microsatellite indels identifies driver events in human tumors (doi: 10.1038/nbt.3966) Again, I only note for the gene that I have been interested. Microsatellites; *variable-lengths repeats of short DNA motif (usually 1-6 repeat) *exhibit of high rate of mutation, esp, indel Gap: *the relationship of somatic MS indels to cancer is unk,  bc of the technical limitation What they do: Present two tools MSMUTect - accurate detection of somatic MS indels MSMutSig - identification of genes containing MS indels Apply the tool to whole-exome from -6747 human tumors; 20 tumors -identified new >1000 MS indels in cancer genes -be able to distinguish microsatellite -stable from microstellite instability -identified 7 MS indel hotspots: *ACVR2A, RNF43,JAK1,MSH3 (previously known cancer genes -- meaning support the tumor growth) *ESRP1,PRDM2 and DOCK3 --- MS; *repetitive short sequences (1-6 bp) *abundant in non-transcribed regio...

I have heard these two trails for the first time at JCMS2017 from Dr. Somponart (SISP). Besides, I have heard my colleague talked about her principal investigator want to examine whether cholangiocarcinoma has the mutations that are drugable to the current drug market, especially in Thailand, where not many choices of the affordable targeted therapy are available. I think it is quite useful, at least, for me to have a very short note on it. Article: Novel Precision Medicine Trial Designs Umbrellas and Baskets Ref: 10.1001/jamaoncol.2016.5299 Precision concept: Finding the specific mutations and get the precise drug to treat -- Before the precision medicine era: *one size fits all -- specific mutation driving cancer Trend is changing since new technology + minor population want to be completely free from cancer *initiate two new differential trail designs *Umbrella trial - focus on one type of cancers but different genetic mutations (based on its origina...

Paper: The cancer genome (doi: 10.1038/nature07943) Note only the part that I am interested. Step by step of changing in the genome: 1.Fertilized set considered as original 2.Somatic set 3.Germline set --- In somatic mutations for the cancer genome: 1.substitution in one base 2.insertion or deletion 3.rearrangement/broken and rejoining 4.copy number increase/decrease --- Exogenous gene causing cancer: Esp. from virus that integrates into the host genome -- *human papilloma virus (HPV) *Epstein Barr virus (EBV) *Hepatitis B virus (HBV) *human T lymphotropic virus 1 *human herpes virus 8 --- Structural genome: *epigenetic changes -- chromatin structure + gene expression *Epigenetic changes can be applied with Darwinian natural selection --- Mitochondria genome: circular 17 kb somatic mutations has been reported in many human cancers - exact roles are not clear Introduction of total genomic DNA from human cancers into phenotypically normal NIH3T3 cel...

Paper: RNF43 is a tumor suppressor gene mutated in mucinous tumors of the ovary (doi: 10.1002/path.4134) Abstract; Focus on mucinous carcinomas in ovary (hard to treat by conventional therapy-platinum based) Gap: Genetic of mucinous type in ovarian tumor is unk Procedure: Exome sequencing 12 mucinous ovarian tumors Finding: frequently somatic mutation (high to low) 1.KRAS 2.RNF43 = TP53 and BRAF Look more details: Ovarian tumor in mucinous (benign) -- 2/22 (9%) Mucinous ovarian carcinoma -- 6/29 (21%) Type of mutations and changes in RNF43: 1. Truncated 2. Missense (causing lost function) 3. Lost of WT allele In conclusion evident suggested: RNF43 acts as tumor suppressor (first report to propose this role)  in 1. mucinous ovarian tumor 2. mucinous pancreatic precancerous cyst Increasing of mutation frequency of RNF43 would be used as transitional marker from borderline to cancerous state in mucinous ovarian cancer. Intro part: evident su...

Info: www.thailandinnodesign.com  // Department of International Trade Promotion Ministry of Commerce, Thailand (DITP) งานนิทรรศการชิ้นนี้เห็นมาจาก บล็อกของเพื่อนท่านหนึ่งใน facebook เหมาะเจาะกับความสนใจในเรื่องดังกล่าว และเวลาว่างตรงกันพอดี เลยมีโอกาสได้เดินทางไปยังศูนย์การประชุมแห่งชาติสิริกิติ์ เพื่อไปดูว่างาน innovation และ design มีอะไรที่น่าสนใจบ้าง ทางเข้าป้ายอาจจะค่อนข้างเล็กนิดนึง แต่งานข้างในตระการตามาก และพร้อมไปด้วยข้อมูลของเจ้าของสินค้า เป็นโบรชัวร์ที่เอาไว้ประกอบการเดินดูงาน นอกจากนี้แล้วยังมีกิจกรรมต่าง ๆ ให้ร่วมในห้องประชุมข้าง ๆ กัน แต่เนื่องจากเวลาจำกัด จึงได้แค่เดินดูไอเดียต่าง ๆ ในห้อง plenary hall แทน เมื่อเข้ามาถึงห้องประชุม งานจะจัดแสดงไว้เป็นบล็อก ๆ แยกตามลักษณะของตัวผลิตภัณฑ์ ซึ่งมีค่อนข้างหลากหลายมาก มีตั้งแต่เรื่องการแพทย์ การเกษตร การออกแบบผลิตภัณฑ์ รวมไปถึงแอพลิเคชั่นที่ช่วยอำนวยความสะดวกให้กับชีวิตประจำวัน แต่ละที่ตั้ง จะแสดงถึงที่มาที่ไปของผลิตภัณฑ์ ซึ่งทำได้สมสัดส่วน และบอกถึงแหล่งที่สามารถติดต่อถึงเจ้าของผลงาน เพื่อทำการซื้อหรือทำการติด...

15 September 2015 (last day!) Attend only one session HCC Early Diagnostic and Screening (Dr.Taya) Top ten tips Survival is poor Thailand is the number one in Asian pacific region Survival is very low since patients always comes when chronic How to improve - using the bclc staging system which has the criteria to treat in each step (it is basically in Spain Step by step to make it better Prevention Early diagnostic Treatment Palliation Symptoms occur late, detection late cause patients to have low survival rate  90.2% does not get the targeted-therapy Early diagnostic; screening increases the early stage of the detections and improve survival rate Problem on the screening like ultrasound (some ppl cannot afford), doctors might miss recognition the risk of hbv, sound like it still has a problem on the screening Surgery and Liver Transplantation (Dr.Prawat) Next for the treatment (surgery and transplantation) Su...

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...