Personalized medicine

Genetics of multifactorial disorders: proceedings of the 6th Pan Arab Human Genetics Conference

The 6th Pan Arab Human Genetics Conference (PAHGC), “Genetics of Multifactorial Disorders” was organized by the Center for Arab Genomic Studies (http://​www.​cags.​org.​ae

Authors: Pratibha Nair, Sami Bizzari, Nirmal Rajah, Nada Assaf, Mahmoud Taleb Al-Ali and Abdul Rezzak Hamzeh

Pharmacogenetics driving personalized medicine: analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations

Breast cancer is the most common cancer in women characterized by a high variable clinical outcome among individuals treated with equivalent regimens and novel targeted therapies. In this study, we performed a...

Authors: Massimiliano Cocca, Davide Bedognetti, Martina La Bianca, Paolo Gasparini and Giorgia Girotto

Anti-cytokine autoantibodies in postherpetic neuralgia

The mechanisms by which varicella zoster virus (VZV) reactivation causes postherpetic neuralgia (PHN), a debilitating chronic pain condition, have not been fully elucidated. Based on previous studies identifyi...

Authors: Ahmad Bayat, Peter D. Burbelo, Sarah K. Browne, Mark Quinlivan, Bianca Martinez, Steven M. Holland, Asokumar Buvanendran, Jeffrey S. Kroin, Andrew J. Mannes, Judith Breuer, Jeffrey I. Cohen and Michael J. Iadarola

In vitro response pattern of monocytes after tmTNF reverse signaling predicts response to anti-TNF therapy in rheumatoid arthritis

Treatment with TNF inhibitors is very efficient in the majority of the patients with rheumatoid arthritis (RA), but it does not achieve a sufficient treatment response in 40–50% of the cases. Goal of the study...

Authors: Undine Meusch, Marco Krasselt, Manuela Rossol, Christoph Baerwald, Maria Klingner and Ulf Wagner

Plasma mRNA expression levels of BRCA1 and TS as potential predictive biomarkers for chemotherapy in gastric cancer

Personalized chemotherapy based on predictive biomarkers can maximize efficacy. However, tumor tissue obtained at the time of initial diagnosis will not reflect genetic alterations observed at the time of dise...

Authors: Jie Shen, Jia Wei, Wenxian Guan, Hao Wang, Yitao Ding, Xiaoping Qian, Lixia Yu, Zhengyun Zou, Li Xie, Carlota Costa, Trever Bivona, Rafael Rosell and Baorui Liu

Molecular epidemiology and genotype distribution of Human Papillomavirus (HPV) among Arab women in the state of Qatar

Human Papilloma Virus (HPV) infection is the major cause of cervical cancer worldwide. With limited data available on HPV prevalence in the Arab countries, this study aimed to identify the prevalence and genot...

Authors: Devendra Bansal, Asha A Elmi, Sini Skariah, Pascale Haddad, Laith J Abu-Raddad, Aysha H Al Hamadi, Nady Mohamed-Nady, Nahla M Affifi, Randa Ghedira, Elham Hassen, Asma AJ Al-Thani, Afaf AHM Al-Ansari and Ali A Sultan

High-throughput profiling identifies clinically actionable mutations in salivary duct carcinoma

Salivary duct carcinoma (SDC) is a highly aggressive subtype of salivary gland cancers and there is no established standard therapy for this disease. Thus, development of molecular markers for SDC will be impo...

Authors: Bo Mi Ku, Hyun Ae Jung, Jong-Mu Sun, Young Hyeh Ko, Han-Sin Jeong, Young-Ik Son, Chung-Hwan Baek, Keunchil Park and Myung-Ju Ahn

Genetics and primary care: where are we headed?

Since first sequencing the human genome in 2003, emerging genetic/genomic technologies have ushered in a revolutionary era of medicine that purports to bridge molecular biology and clinical care. The field of ...

Authors: Vasiliki Rahimzadeh and Gillian Bartlett

Cohort profile: Greifswald approach to individualized medicine (GANI_MED)

Individualized Medicine aims at providing optimal treatment for an individual patient at a given time based on his specific genetic and molecular characteristics. This requires excellent clinical stratificatio...

Authors: Hans J Grabe, Heinrich Assel, Thomas Bahls, Marcus Dörr, Karlhans Endlich, Nicole Endlich, Pia Erdmann, Ralf Ewert, Stephan B Felix, Beate Fiene, Tobias Fischer, Steffen Flessa, Nele Friedrich, Mariacarla Gadebusch-Bondio, Manuela Gesell Salazar, Elke Hammer…

In silico modeling predicts drug sensitivity of patient-derived cancer cells

Glioblastoma (GBM) is an aggressive disease associated with poor survival. It is essential to account for the complexity of GBM biology to improve diagnostic and therapeutic strategies. This complexity is best...

Authors: Sandeep C Pingle, Zeba Sultana, Sandra Pastorino, Pengfei Jiang, Rajesh Mukthavaram, Ying Chao, Ila Sri Bharati, Natsuko Nomura, Milan Makale, Taher Abbasi, Shweta Kapoor, Ansu Kumar, Shahabuddin Usmani, Ashish Agrawal, Shireen Vali and Santosh Kesari

Intratumoral distribution of EGFR mutations and copy number in metastatic lung cancer, what impact on the initial molecular diagnosis?

Activating epidermal growth factor receptor (EGFR) mutations characterize a subgroup of non-small-cell lung cancer that benefit from first line EGFR tyrosine kinase inhibitors (EGFR-TKI). However, the existence o...

Authors: Audrey Mansuet-Lupo, Fouzia Zouiti, Marco Alifano, Anne Tallet, Marie-Christine Charpentier, Véronique Ducruit, Fabrice Devez, Fanny Lemaitre, Pierre Laurent-Puig, Diane Damotte and Hélène Blons

Genetic variability of the core protein in hepatitis C virus genotype 4 in Saudi Arabian patients and its implication on pegylated interferon and ribavirin therapy

Hepatitis C virus (HCV) shows a remarkable genetic diversity, contributing to its high persistence and varied susceptibilities to antiviral treatment. Previous studies have reported that the substitution of am...

Authors: Fatimah S Alhamlan, Mohammed N Al-Ahdal, Nisreen Z Khalaf, Ayman A Abdo, Faisal M Sanai, Hamad I Al-Ashgar, Mahmoud ElHefnawi, Amina Zaid and Ahmed A Al-Qahtani

PTPRO promoter methylation is predictive of poorer outcome for HER2-positive breast cancer: indication for personalized therapy

Protein Tyrosine Phosphatase Receptor-type O (PTPRO) has recently been in the spotlight as a tumor suppressor, whose encoding gene is frequently methylated in cancers. We examined the methylation status of the...

Authors: Yi-Teng Huang, Fei-Fei Li, Chen Ke, Zhou Li, Zong-Tai Li, Xiao-Fang Zou, Xiao-Xuan Zheng, Yu-Ping Chen and Hao Zhang

The AKT inhibitor AZD5363 is selectively active in PI3KCA mutant gastric cancer, and sensitizes a patient-derived gastric cancer xenograft model with PTEN loss to Taxotere

Activation of the PI3K/AKT pathway is a common phenomenon in cancer due to multiple mechanisms, including mutation of PI3KCA, loss or mutation of PTEN, or over-expression of receptor tyrosine kinases. We recen...

Authors: Jing Li, Barry R Davies, Sufang Han, Minhua Zhou, Yu Bai, Jingchuan Zhang, Yan Xu, Lily Tang, Huiying Wang, Yuan Jie Liu, Xiaolu Yin, Qunsheng Ji and De-Hua Yu

Molecular-guided therapy predictions reveal drug resistance phenotypes and treatment alternatives in malignant peripheral nerve sheath tumors

Malignant peripheral nerve sheath tumors (MPNST) are rare highly aggressive sarcomas that affect 8-13% of people with neurofibromatosis type 1. The prognosis for patients with MPNST is very poor. Despite TOP2A...

Authors: Jacqueline D Peacock, David Cherba, Kevin Kampfschulte, Mallory K Smith, Noel R Monks, Craig P Webb and Matthew Steensma

Heterogeneous distribution of BRAF/NRAS mutations among Italian patients with advanced melanoma

Prevalence and distribution of pathogenetic mutations in BRAF and NRAS genes were evaluated in multiple melanoma lesions from patients with different geographical origin within the same Italian population.

Authors: Maria Colombino, Amelia Lissia, Mariaelena Capone, Vincenzo De Giorgi, Daniela Massi, Ignazio Stanganelli, Ester Fonsatti, Michele Maio, Gerardo Botti, Corrado Caracò, Nicola Mozzillo, Paolo A Ascierto, Antonio Cossu and Giuseppe Palmieri

Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China

Hearing loss is caused by several environmental and genetic factors and the proportion attributed to inherited causes is assumed at 50 ~ 60% . Mutations in GJB2 and mitochondrial DNA (mtDNA) 12S rRNA are the most...

Authors: Qinjun Wei, Shuai Wang, Jun Yao, Yajie Lu, Zhibin Chen, Guangqian Xing and Xin Cao

A multi-site feasibility study for personalized medicine in canines with Osteosarcoma

A successful therapeutic strategy, specifically tailored to the molecular constitution of an individual and their disease, is an ambitious objective of modern medicine. In this report, we highlight a feasibili...

Authors: Noel R Monks, David M Cherba, Steven G Kamerling, Heather Simpson, Anthony W Rusk, Derrick Carter, Emily Eugster, Marie Mooney, Robert Sigler, Matthew Steensma, Tessa Grabinski, Keith R Marotti and Craig P Webb

Genome scan study of prostate cancer in Arabs: identification of three genomic regions with multiple prostate cancer susceptibility loci in Tunisians

Large databases focused on genetic susceptibility to prostate cancer have been accumulated from population studies of different ancestries, including Europeans and African-Americans. Arab populations, however,...

Authors: Jingxuan Shan, Khalid Al-Rumaihi, Danny Rabah, Issam Al-Bozom, Dhanya Kizhakayil, Karim Farhat, Sami Al-Said, Hala Kfoury, Shoba P Dsouza, Jillian Rowe, Hanif G Khalak, Shahzad Jafri, Idil I Aigha and Lotfi Chouchane

High EGFR copy number predicts benefits from tyrosine kinase inhibitor treatment for non-small cell lung cancer patients with wild-type EGFR

This study was designed to determine whether advanced non-small-cell lung cancer (NSCLC) patients with high copy number of epidermal growth factor receptor (EGFR) can benefit from treatment with EGFR-tyrosine ...

Authors: Fang Wang, Sha Fu, Qiong Shao, Yan-Bin Zhou, Xiao Zhang, Xu Zhang, Cong Xue, Jian-Guang Lin, Li-Xia Huang, Li Zhang, Wei-Min Zhang and Jian-Yong Shao

SSX2IP promotes metastasis and chemotherapeutic resistance of hepatocellular carcinoma

Synovial sarcoma, X breakpoint 2 interacting protein (SSX2IP), which has been identified as an acute myeloid leukemia associated antigen, is a potential target for leukemia immunotherapy. In rodents, its homol...

Authors: Pu Li, Ying Lin, Yu Zhang, Zhenggang Zhu and Keke Huo

Prothrombotic gene variants as risk factors of acute myocardial infarction in young women

Acute myocardial infarction (AMI) in young women represent an extreme phenotype associated with a higher mortality compared with similarly aged men. Prothrombotic gene variants could play a role as risk factor...

Authors: Rossella Tomaiuolo, Chiara Bellia, Antonietta Caruso, Rosanna Di Fiore, Sandro Quaranta, Davide Noto, Angelo B Cefalù, Pierpaolo Di Micco, Federica Zarrilli, Giuseppe Castaldo, Maurizio R Averna and Marcello Ciaccio

Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling

Mutations in the SLC26A4 gene, which encodes the anion transporter, pendrin, are a major cause of autosomal recessive non-syndromic hearing loss (NSHL) in some Asian populations. SLC26A4 c.919-2A>G (IVS7-2A>G)...

Authors: Qi Li, Qing-wen Zhu, Yong-yi Yuan, Sha-sha Huang, Dong-yi Han, De-liang Huang and Pu Dai

A gender-related action of IFNbeta-therapy was found in multiple sclerosis

Understanding how sexual dimorphism affects the physiological and pathological responses of the immune system is of considerable clinical importance and could lead to new approaches in therapy. Sexual dimorphi...

Authors: Ida Contasta, Rocco Totaro, Patrizia Pellegrini, Tiziana Del Beato, Antonio Carolei and Anna Maria Berghella

Prognostic and predictive value of circulating tumor cell analysis in colorectal cancer patients

The aim of this study was to assess the prognostic and predictive values of circulating tumor cell (CTC) analysis in colorectal cancer patients.

Authors: Andreia de Albuquerque, Ilja Kubisch, Ulrich Stölzel, Dominikus Ernst, Joachim Boese-Landgraf, Georg Breier, Gudrun Stamminger, Nikos Fersis and Sepp Kaul

Future detection and monitoring of diabetes may entail analysis of both β-cell function and volume: How markers of β-cell loss may assist

Disease heterogeneity is as major issue in Type II Diabetes Mellitus (T2DM), and this patient inter-variability might not be sufficiently reflected by measurements of glycated haemoglobin (HbA1c).

Authors: Anita V Neutzsky-Wulff, Kim V Andreassen, Sara T Hjuler, Michael Feigh, Anne-Christine Bay-Jensen, Qinlong Zheng, Kim Henriksen and Morten A Karsdal

Five novel glucose-6-phosphate dehydrogenase deficiency haplotypes correlating with disease severity

Glucose-6-phosphate dehydrogenase (G6PD, EC 1.1.1.49) deficiency is caused by one or more mutations in the G6PD gene on chromosome X. An association between enzyme levels and gene haplotypes remains to be establi...

Authors: Ashraf Dallol, Huda Banni, Mamdooh A Gari, Mohammed H Al-Qahtani, Adel M Abuzenadeh, Fatin Al-Sayes, Adeel G Chaudhary, Jeffrey Bidwell and Wael Kafienah

Preoperative Cyfra21-1 and SCC-Ag serum titers predict survival in patients with stage II esophageal squamous cell carcinoma

The purpose of this study is to evaluate the predictive significance of preoperative serum level of cytokeratin 19 fragments (Cyfra21-1) and squamous cell carcinoma antigen (SCC-Ag) after complete resection in...

Authors: Xun Cao, Lin Zhang, Gui-Rong Feng, Juan Yang, Ruo-Yan Wang, Jun Li, Xiao-Min Zheng and Yu-Jing Han

Whole genome methylation profiles as independent markers of survival in stage IIIC melanoma patients

The clinical course of cutaneous melanoma (CM) can differ significantly for patients with identical stages of disease, defined clinico-pathologically, and no molecular markers differentiate patients with such ...

Authors: Luca Sigalotti, Alessia Covre, Elisabetta Fratta, Giulia Parisi, Paolo Sonego, Francesca Colizzi, Sandra Coral, Samuele Massarut, John M Kirkwood and Michele Maio

BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs

BRCA1–associated protein 1 (BAP1) is a tumor suppressor gene located on chromosome 3p21. Germline BAP1 mutations have been recently associated with an increased risk of malignant mesothelioma, atypical melanocyti...

Authors: Michele Carbone, Laura Korb Ferris, Francine Baumann, Andrea Napolitano, Christopher A Lum, Erin G Flores, Giovanni Gaudino, Amy Powers, Peter Bryant-Greenwood, Thomas Krausz, Elizabeth Hyjek, Rachael Tate, Joseph Friedberg, Tracey Weigel, Harvey I Pass and Haining Yang

Integrated next-generation sequencing of 16S rDNA and metaproteomics differentiate the healthy urine microbiome from asymptomatic bacteriuria in neuropathic bladder associated with spinal cord injury

Clinical dogma is that healthy urine is sterile and the presence of bacteria with an inflammatory response is indicative of urinary tract infection (UTI). Asymptomatic bacteriuria (ABU) represents the state in...

Authors: Derrick E Fouts, Rembert Pieper, Sebastian Szpakowski, Hans Pohl, Susan Knoblach, Moo-Jin Suh, Shih-Ting Huang, Inger Ljungberg, Bruce M Sprague, Sarah K Lucas, Manolito Torralba, Karen E Nelson and Suzanne L Groah

Characterization of CDKN2A(p16) methylation and impact in colorectal cancer: systematic analysis using pyrosequencing

The aim of this study is to analyse CDKN2A methylation using pyrosequencing on a large cohort of colorectal cancers and corresponding non-neoplastic tissues. In a second step, the effect of methylation on clinica...

Authors: Michel P Bihl, Anja Foerster, Alessandro Lugli and Inti Zlobec

Genetic variation in the TNF receptor-associated factor 6 gene is associated with susceptibility to sepsis-induced acute lung injury

Recent studies showed that overwhelming inflammatory response mediated by the toll-like receptor (TLR)-related pathway was important in the development of acute lung injury (ALI). The aim of this study was to ...

Authors: Zhenju Song, Chenling Yao, Jun Yin, Chaoyang Tong, Duming Zhu, Zhan Sun, Jinjun Jiang, Mian Shao, Yaping Zhang, Zhi Deng, Zhengang Tao, Si Sun and Chunxue Bai

Correlation of pretreatment drug induced apoptosis in ovarian cancer cells with patient survival and clinical response

This study was performed to determine if a chemotherapy-induced apoptosis assay (MiCK) could predict the best therapy for patients with ovarian cancer.

Authors: Emery Salom, Manuel Penalver, Howard Homesley, Matthew Burrell, Audrey Garrett, Cary A Presant, James Rutledge, Michael Chernick, Allan Hallquist and Mathieu Perree

Serum microRNAs as biomarkers for recurrence in melanoma

Identification of melanoma patients at high risk for recurrence and monitoring for recurrence are critical for informed management decisions. We hypothesized that serum microRNAs (miRNAs) could provide prognos...

Authors: Erica B Friedman, Shulian Shang, Eleazar Vega-Saenz de Miera, Jacob Ulrik Fog, Maria Wrang Teilum, Michelle W Ma, Russell S Berman, Richard L Shapiro, Anna C Pavlick, Eva Hernando, Adam Baker, Yongzhao Shao and Iman Osman

A systematic review and meta-analysis of 235delC mutation of GJB2 gene

The 235delC mutation of GJB2 gene is considered as a risk factor for the non-syndromic hearing loss (NSHL), and a significant difference in the frequency and distribution of the 235delC mutation has been describe...

Authors: Jun Yao, Yajie Lu, Qinjun Wei, Xin Cao and Guangqian Xing

High expression of high mobility group box 1 (hmgb1) predicts poor prognosis for hepatocellular carcinoma after curative hepatectomy

High mobility group box 1(HMGB1) overexpression has been reported in a variety of human cancers. However, the role of HMGB1 in hepatocellular carcinoma (HCC) remains unclear. The aim of present study was to an...

Authors: Furong Liu, Yaojun Zhang, Zhenwei Peng, Hengjun Gao, Li Xu and Minshan Chen

Genomic characterization of explant tumorgraft models derived from fresh patient tumor tissue

There is resurgence within drug and biomarker development communities for the use of primary tumorgraft models as improved predictors of patient tumor response to novel therapeutic strategies. Despite perceive...

Authors: David J Monsma, Noel R Monks, David M Cherba, Dawna Dylewski, Emily Eugster, Hailey Jahn, Sujata Srikanth, Stephanie B Scott, Patrick J Richardson, Robin E Everts, Aleksandr Ishkin, Yuri Nikolsky, James H Resau, Robert Sigler, Brian J Nickoloff and Craig P Webb

Gene expression analysis of matched ovarian primary tumors and peritoneal metastasis

Ovarian cancer is the most deadly gynecological cancer due to late diagnosis at advanced stage with major peritoneal involvement. To date most research has focused on primary tumor. However the prognosis is di...

Authors: Joel A Malek, Alejandra Martinez, Eliane Mery, Gwenael Ferron, Ruby Huang, Christophe Raynaud, Eva Jouve, Jean-Paul Thiery, Denis Querleu and Arash Rafii

Preparation and characterization of silk fibroin as a biomaterial with potential for drug delivery

Degummed silk fibroin from Bombyx mori (silkworm) has potential carrier capabilities for drug delivery in humans; however, the processing methods have yet to be comparatively analyzed to determine the differentia...

Authors: Hao Zhang, Ling-ling Li, Fang-yin Dai, Hao-hao Zhang, Bing Ni, Wei Zhou, Xia Yang and Yu-zhang Wu

Predictive role of multiple gene alterations in response to cetuximab in metastatic colorectal cancer: A single center study

KRAS mutations negatively affect outcome after treatment with cetuximab in metastatic colorectal cancer (mCRC) patients. As only 20% of KRAS wild type (WT) patients respond to cetuximab it is possible that other ...

Authors: Paola Ulivi, Laura Capelli, Martina Valgiusti, Wainer Zoli, Emanuela Scarpi, Elisa Chiadini, Paola Rosetti, Sara Bravaccini, Daniele Calistri, Luca Saragoni, Andrea Casadei Gardini, Angela Ragazzini, Giovanni Luca Frassineti, Dino Amadori and Alessandro Passardi

Further evidence for the existence of major susceptibility of nasopharyngeal carcinoma in the region near HLA-A locus in Southern Chinese

Nasopharyngeal carcinoma (NPC) is a multi-factorial malignancy closely associated with environmental factors, genetic factors and Epstein-Barr virus infection. Human leukocyte antigen (HLA) complex, specially ...

Authors: Manli Zhao, Hongbing Cai, Xin Li, Hang Zheng, Xuexi Yang, Weiyi Fang, Longcheng Zhang, Ganguan Wei, Ming Li, Kaitai Yao and Xin Li

Circulating miR-378 and miR-451 in serum are potential biomarkers for renal cell carcinoma

There is no standard serum biomarker used for diagnosis or early detection of recurrence for renal cell carcinoma (RCC) patients. MicroRNAs (miRNAs) are abundant and highly stable in blood serum, and have been...

Authors: Martina Redova, Alexandr Poprach, Jana Nekvindova, Robert Iliev, Lenka Radova, Radek Lakomy, Marek Svoboda, Rostislav Vyzula and Ondrej Slaby

De novo sequencing of circulating miRNAs identifies novel markers predicting clinical outcome of locally advanced breast cancer

MicroRNAs (miRNAs) have been recently detected in the circulation of cancer patients, where they are associated with clinical parameters. Discovery profiling of circulating small RNAs has not been reported in ...

Authors: Xiwei Wu, George Somlo, Yang Yu, Melanie R Palomares, Arthur Xuejun Li, Weiying Zhou, Amy Chow, Yun Yen, John J Rossi, Harry Gao, Jinhui Wang, Yate-Ching Yuan, Paul Frankel, Sierra Li, Kimlin Tam Ashing-Giwa, Guihua Sun…

Genomic sequencing in clinical trials

Human genome sequencing is the process by which the exact order of nucleic acid base pairs in the 24 human chromosomes is determined. Since the completion of the Human Genome Project in 2003, genomic sequencin...

Authors: Karen K Mestan, Leonard Ilkhanoff, Samdeep Mouli and Simon Lin

Personalized medicine: a patient - centered paradigm

Authors: Lotfi Chouchane, Ravinder Mamtani, Ashraf Dallol and Javaid I Sheikh