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Precision Medicine

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9 papers 0 to 25 followers
Maria E Cabanillas, David G McFadden, Cosimo Durante
Thyroid cancer is the fifth most common cancer in women in the USA, and an estimated over 62 000 new cases occurred in men and women in 2015. The incidence continues to rise worldwide. Differentiated thyroid cancer is the most frequent subtype of thyroid cancer and in most patients the standard treatment (surgery followed by either radioactive iodine or observation) is effective. Patients with other, more rare subtypes of thyroid cancer-medullary and anaplastic-are ideally treated by physicians with experience managing these malignancies...
May 27, 2016: Lancet
(no author information available yet)
We describe the landscape of genomic alterations in cutaneous melanomas through DNA, RNA, and protein-based analysis of 333 primary and/or metastatic melanomas from 331 patients. We establish a framework for genomic classification into one of four subtypes based on the pattern of the most prevalent significantly mutated genes: mutant BRAF, mutant RAS, mutant NF1, and Triple-WT (wild-type). Integrative analysis reveals enrichment of KIT mutations and focal amplifications and complex structural rearrangements as a feature of the Triple-WT subtype...
June 18, 2015: Cell
Eric Van Cutsem, Xavier Sagaert, Baki Topal, Karin Haustermans, Hans Prenen
Gastric cancer is one of the leading causes of cancer-related death worldwide. Many patients have inoperable disease at diagnosis or have recurrent disease after resection with curative intent. Gastric cancer is separated anatomically into true gastric adenocarcinomas and gastro-oesophageal-junction adenocarcinomas, and histologically into diffuse and intestinal types. Gastric cancer should be treated by teams of experts from different disciplines. Surgery is the only curative treatment. For locally advanced disease, adjuvant or neoadjuvant therapy is usually implemented in combination with surgery...
May 5, 2016: Lancet
Konstantinos N Lazaridis, Kimberly A Schahl, Margot A Cousin, Dusica Babovic-Vuksanovic, Douglas L Riegert-Johnson, Ralitza H Gavrilova, Tammy M McAllister, Noralane M Lindor, Roshini S Abraham, Michael J Ackerman, Pavel N Pichurin, David R Deyle, Dimitar K Gavrilov, Jennifer L Hand, Eric W Klee, Michael C Stephens, Myra J Wick, Elizabeth J Atkinson, David R Linden, Matthew J Ferber, Eric D Wieben, Gianrico Farrugia
OBJECTIVE: To describe the experience and outcome of performing whole-exome sequencing (WES) for resolution of patients on a diagnostic odyssey in the first 18 months of an individualized medicine clinic (IMC). PATIENTS AND METHODS: The IMC offered WES to physicians of Mayo Clinic practice for patients with suspected genetic disease. DNA specimens of the proband and relatives were submitted to WES laboratories. We developed the Genomic Odyssey Board with multidisciplinary expertise to determine the appropriateness for IMC services, review WES reports, and make the final decision about whether the exome findings explain the disease...
March 2016: Mayo Clinic Proceedings
Gareth J Hollands, David P French, Simon J Griffin, A Toby Prevost, Stephen Sutton, Sarah King, Theresa M Marteau
OBJECTIVE: To assess the impact of communicating DNA based disease risk estimates on risk-reducing health behaviours and motivation to engage in such behaviours. DESIGN: Systematic review with meta-analysis, using Cochrane methods. DATA SOURCES: Medline, Embase, PsycINFO, CINAHL, and the Cochrane Central Register of Controlled Trials up to 25 February 2015. Backward and forward citation searches were also conducted. STUDY SELECTION: Randomised and quasi-randomised controlled trials involving adults in which one group received personalised DNA based estimates of disease risk for conditions where risk could be reduced by behaviour change...
2016: BMJ: British Medical Journal
Yan V Sun, Yi-Juan Hu
Complex and dynamic networks of molecules are involved in human diseases. High-throughput technologies enable omics studies interrogating thousands to millions of makers with similar biochemical properties (eg, transcriptomics for RNA transcripts). However, a single layer of "omics" can only provide limited insights into the biological mechanisms of a disease. In the case of genome-wide association studies, although thousands of single nucleotide polymorphisms have been identified for complex diseases and traits, the functional implications and mechanisms of the associated loci are largely unknown...
2016: Advances in Genetics
Keunchil Park, Eng-Huat Tan, Ken O'Byrne, Li Zhang, Michael Boyer, Tony Mok, Vera Hirsh, James Chih-Hsin Yang, Ki Hyeong Lee, Shun Lu, Yuankai Shi, Sang-We Kim, Janessa Laskin, Dong-Wan Kim, Catherine Dubos Arvis, Karl Kölbeck, Scott A Laurie, Chun-Ming Tsai, Mehdi Shahidi, Miyoung Kim, Dan Massey, Victoria Zazulina, Luis Paz-Ares
BACKGROUND: The irreversible ErbB family blocker afatinib and the reversible EGFR tyrosine kinase inhibitor gefitinib are approved for first-line treatment of EGFR mutation-positive non-small-cell lung cancer (NSCLC). We aimed to compare the efficacy and safety of afatinib and gefitinib in this setting. METHODS: This multicentre, international, open-label, exploratory, randomised controlled phase 2B trial (LUX-Lung 7) was done at 64 centres in 13 countries. Treatment-naive patients with stage IIIB or IV NSCLC and a common EGFR mutation (exon 19 deletion or Leu858Arg) were randomly assigned (1:1) to receive afatinib (40 mg per day) or gefitinib (250 mg per day) until disease progression, or beyond if deemed beneficial by the investigator...
May 2016: Lancet Oncology
Saumya Shekhar Jamuar, Jyn Ling Kuan, Maggie Brett, Zenia Tiang, Wilson Lek Wen Tan, Jiin Ying Lim, Wendy Kein Meng Liew, Asif Javed, Woei Kang Liew, Hai Yang Law, Ee Shien Tan, Angeline Lai, Ivy Ng, Yik Ying Teo, Byrappa Venkatesh, Bruno Reversade, Ene Choo Tan, Roger Foo
BACKGROUND: In Western cohorts, the prevalence of incidental findings (IFs) or incidentalome, referring to variants in genes that are unrelated to the patient's primary condition, is between 0.86% and 8.8%. However, data on prevalence and type of IFs in Asian population is lacking. METHODS: In 2 cohorts of individuals with genomic sequencing performed in Singapore (total n = 377), we extracted and annotated variants in the 56 ACMG-recommended genes and filtered these variants based on the level of pathogenicity...
March 2016: EBioMedicine
Luca Salmasi, Enrico Capobianco
Precision medicine presents various methodological challenges whose assessment requires the consideration of multiple factors. In particular, the data multitude in the Electronic Health Records poses interoperability issues and requires novel inference strategies. A problem, though apparently a paradox, is that highly specific treatments and a variety of outcomes may hardly match with consistent observations (i.e., large samples). Why is it the case? Owing to the heterogeneity of Electronic Health Records, models for the evaluation of treatment effects need to be selected, and in some cases, the use of instrumental variables might be necessary...
April 7, 2016: Statistical Methods in Medical Research
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