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Gene, cancer, polymorphism

Susanne Horn, Sonia Leonardelli, Antje Sucker, Dirk Schadendorf, Klaus G Griewank, Annette Paschen
Poor clinical responses to checkpoint blockade with anti-CTLA-4 and anti-PD-1 antibodies in melanoma have recently been associated with acquired IFNγ resistance that protects tumor cells from the antiproliferative and pro-apoptotic cytokine activity. IFNγ-resistant melanoma cells very often lack functional expression of the IFNγ signaling pathway gene JAK2 due to gene deletions or inactivating gene mutations. Analyzing melanoma cell lines (n = 46, applying next-generation targeted sequencing and single nucleotide polymorphism arrays) as well as available genomic data sets from The Cancer Genome Atlas (TCGA) tumor tissue samples (cutaneous melanoma n = 367, lung squamous cell carcinoma n = 501, bladder urothelial carcinoma n = 408, breast invasive carcinoma n = 768, colorectal adenocarcinoma n = 257), we demonstrate that the frequent chromosomal losses of the tumor suppressor CDKN2A in melanoma and other tumor entities enhance the susceptibility to IFNγ resistance by concomitant deletion of the JAK2 gene (odds ratio = 223...
June 1, 2018: Journal of the National Cancer Institute
Sabah Linjawi, Zuhoor AlGaithy, Samar Sindi, Norah Hamdi, Ayman Linjawi, Mona Alharbi
OBJECTIVES: To identify the impact of Lipocalin-2 (LCN2) gene polymorphisms on breast cancer patients in western Saudi Arabia. METHODS: It is a case control study in which blood samples of participants from Medical Reference Clinics and King Abdulaziz University Hospital in Jeddah, Saudi Arabia have been taken between 2014 and 2016. This study recruited 128 participants (50% control, 50% patients) and used Tetra-Primer amplification-refractory mutation system-polymerase chain reaction method for the detection of missense SNP (rs11556770)...
June 2018: Saudi Medical Journal
Christoph Renner, Frank Stenner
Patients with classical Hodgkin lymphoma (cHL) have an impaired cellular immune response as indicated by an anergic reaction against standard recall antigens and a diminished rejection reaction of allogeneic skin transplant. This clinical observation can be linked to the histopathological feature of cHL since the typical pattern of a cHL manifestation is characterized by sparse large CD30+ tumor-infiltrating Hodgkin-Reed-Sternberg (HRS) cells that are surrounded by a dense inflammatory immune microenvironment with mixed cellularity...
2018: Frontiers in Oncology
Eng-Zhuan Ban, Munn-Sann Lye, Pei Pei Chong, Yoke-Yeow Yap, Siew Ying Crystale Lim, Hejar Abdul Rahman
BACKGROUND: Nasopharyngeal carcinoma is a rare form of cancer across the world except in certain areas such as Southern China, Hong Kong and Malaysia. NPC is considered a relatively radiosensitive tumor and patients diagnosed at early stages tend to survive longer compared to those with advanced disease. Given that early symptoms of NPC are non-specific and that the nasopharynx is relatively inaccessible, less invasive screening methods such as biomarker screening might be the key to improve NPC survival and management...
2018: PloS One
Timothy J Genovese, Jun J Mao
Objective: To evaluate the associations between polymorphisms in two genes, catechol-O-methyltransferase and T-cell leukemia/lymphoma 1 A, and acupuncture-mediated pain reduction among breast cancer survivors with aromatase inhibitor-associated arthralgia. Design, Setting, and Subjects: Biospecimens were obtained from 38 patients enrolled in a clinical trial of acupuncture for aromatase inhibitor-associated arthralgia in postmenopausal hormone receptor-positive breast cancer survivors...
April 17, 2018: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
Liangliang Chen, Junjun Wei, Shuwei Zhang, Zhongguan Lou, Xue Wang, Yu Ren, Honggang Qi, Zhenhua Xie, Yirun Chen, Feng Chen, Qihang Wu, Xiaoxiao Fan, Honglei Xu, Shuaishuai Huang, Guobin Weng
Background: The vitamin D receptor (VDR) plays a key role in vitamin-mediated signaling pathway. Emerging evidence has suggested that the VDR polymorphism may contribute to the risk of prostate cancer (PCa). However, the existing results are not conclusive in Asian population. Methods: We aim to evaluate the potential role of VDR polymorphisms on PCa of Asian population. PubMed, Scopus, Embase, Web of Science, Chinese National Knowledge Infrastructure, Wang Fang Data, and VIP Periodical were retrieved, and eligible studies (case-control or cohort study) meeting the inclusion criteria were evaluated through an updated meta-analysis using Stata13...
2018: OncoTargets and Therapy
M Abbas, V S Kushwaha, K Srivastava, S T Raza, M Banerjee
BACKGROUND: Certain forms of chemoradiotherapy generate toxic reactive oxygen species, which may be ameliorated by antioxidant enzymes such as glutathione S-transferase (GST). Genetic polymorphisms of GST may predict treatment outcomes and can be used as genetic marker to screen patients before treatment. We hypothesised an effect of GST polymorphisms on the response and toxicities produced by chemoradiation therapy. MATERIALS AND METHODS: GST polymorphisms were determined by multiplex polymerase chain reaction (mPCR) and PCR-restriction fragment length polymorphism (PCR-RFLP) in 227 women with cervical cancer receiving cisplatin based chemoradiotherapy...
June 18, 2018: British Journal of Biomedical Science
Martha Patricia Gallegos-Arreola, Guillermo Moisés Zúñiga-González, Josefina Yoaly Sánchez-López, Alondra Yeraldi Naranjo Cruz, Valeria Peralta-Leal, Luis Eduardo Figuera, Ana María Puebla-Pérez, Carlos Alberto Ronquillo-Carreón, Ana Graciela Puebla-Mora
Objective To examine the association between TYMS 2R3R polymorphism and DPYD [IVS]14+1G < A mutation by comparing healthy subjects with colorectal cancer (CRC) patients in the Mexican population. Method Genotyping of the 2R/3R was performed by polymerase chain reaction (PCR) and [IVS]14+1G < A mutation by real-time PCR analysis. Results The observed frequencies of the TYMS 2R3R polymorphism and the -[IVS]14+1G < A mutation in DPYD did not indicate an increased risk for CRC (p < 0.05). However we observed an association of the 2R/2R (OR 3...
June 15, 2018: Acta Biochimica Polonica
Fa Chen, Lin Chen, Lingjun Yan, Tingting Chen, Fengqiong Liu, Yu Qiu, Junfeng Wu, Xiaodan Bao, Xiaoyan Zheng, Zhijian Hu, Zheng Lin, Lin Cai, Lisong Lin, Baochang He
OBJECTIVE: To evaluate the independent and joint effects of FADS1 polymorphism and fish oil intake on oral squamous cell carcinoma( OSCC). METHODS: A case-control study was conducted with 259 newly diagnosed primary OSCC patients and538 controls frequency-matched by sex and age in Fujian from September 2010 to September 2014. Data on demographics and dietary habits such as marine fish oil intake were collected using a structure questionnaire. FADS1 rs174549 genotype was determined using Taq Man genotyping assays...
November 2017: Wei Sheng Yan Jiu, Journal of Hygiene Research
Raju K Mandal, Mohammad Raish, Arshad Jawed, Mohd Wahid, Sajad A Dar, Mohtashim Lohani, Md Ekhlaque Ahmed Khan, Mohammed Y Areeshi, Naseem Akhter, Saif Khan, Shafiul Haque
Objectives: The role of caveolin-1 (CAV1)(G>A, rs3807987) polymorphism is still dubious in cancer causation in Taiwanese population. The present study is an effort to assess the above relation for precise conclusion. Methods: EMBASE and PubMed (MEDLINE) databases were explored for the pertinent case-control studies reporting the connection of CAV1 G14713A polymorphism to the vulnerability to cancer. A cumulative analysis using meta-analytic approach was accomplished and pooled odds ratios (ORs) and 95% confidence intervals (95% CIs) were estimated for all the polymorphs...
May 2018: International Journal of Health Sciences
Yajun Yu, Dangxiao Cheng, Patrick Parfrey, Geoffrey Liu, Sevtap Savas
BACKGROUND AND OBJECTIVE: The Brahma gene (BRM) encodes a catalytic ATPase subunit of the Switch/Sucrose non-fermentable (SWI/SNF) complex, which modulates gene expression and many important cellular processes. Two indel polymorphisms in the promoter region of BRM (BRM-741 and BRM-1321) are associated with its reduced expression and the risk of susceptibility or survival outcomes in multiple solid cancers. In this study, we have examined these variants in relation to susceptibility and survival outcomes in colorectal cancer...
2018: PloS One
Mónica Sierra-Martinez, Leticia Hernández-Cadena, José Rubén García-Sánchez, Gustavo Acosta-Altamirano, Carmen Palacios-Reyes, Patricia García Alonso-Themann, Liliana García-Ortiz, Laura Itzel Quintas-Granados, Octavio Daniel Reyes-Hernández
Context: Several factors contribute to the increase in breast cancer (BC) incidence, such as lifetime exposure to estrogen, early menarche and older ages at first birth, menopause, and the increased prevalence of postmenopausal obesity. In fact, there is an association between an increased BC risk and elevated estrogen levels, which may be involved in carcinogenesis via the estrogen receptor alpha (ERα) encoded by the ESR1 gene. Interestingly, there is an antagonistic relationship between ERα and the aryl hydrocarbon receptor (AhR) in BC cells...
April 2018: Journal of Cancer Research and Therapeutics
Nasrin Yazdanpanahi, Rasoul Salehi, Sara Kamali
Background and Aim of Study: Colorectal cancer (CRC) is among the most common cancers and accounts as the second leading cause of death from cancers in the world. RAD51 plays a crucial role in double-strand breaks repair of DNA. Single nucleotide polymorphisms within this gene could influence on the potential of DNA repair and in consequence on the susceptibility to various tumors such as CRC. This is the first report about the role of RAD51 polymorphisms in Iranian CRC susceptibility...
April 2018: Journal of Cancer Research and Therapeutics
Sambit Swarup Nanda, Ajeet Kumar Gandhi, Madhup Rastogi, Rohini Khurana, Rahat Hadi, Kamal Sahni, Surendra Prasad Mishra, Anoop K Srivastava, Madan Lal Brahma Bhatt, Devendra Parmar
PURPOSE: We evaluated the correlation of the x-ray repair cross complementing gene 1 (XRCC1) Arg194Trp polymorphism with clinical outcomes in head and neck squamous cell carcinoma (HNSCC) patients treated with concurrent chemoradiation therapy (CCRT). METHODS AND MATERIALS: In this prospective cohort study, we included 101 patients with HNSCC (oral cavity, pharynx, and larynx) who were aged ≥ 18 years, had stage III to IVB disease, had a Karnofsky Performance Status ≥ 80, and were deemed fit for CCRT...
July 1, 2018: International Journal of Radiation Oncology, Biology, Physics
Morgane Sonia Thion, Sandrine Humbert
Huntingtin (HTT) is a scaffold protein mostly known because it gives rise to the severe and incurable inherited neurological disorder Huntington's disease (HD) when mutated. The Huntingtin gene (HTT) carries a polymorphic trinucleotide expansion of CAGs in exon 1 that ranges from 9 to 35 in the non-HD affected population. However, if it exceeds 35 CAG repeats, the altered protein is referred to as mutant HTT and leads to the development of HD. Given the wide spectrum of severe symptoms developed by HD individuals, wild-type and mutant HTT have been mostly studied in the context of this disorder...
June 4, 2018: Journal of Huntington's Disease
Hui Yeng Y Yap, Nget Hong Tan, Szu Ting Ng, Chon Seng Tan, Shin Yee Fung
Background: The highly valued medicinal tiger milk mushroom (also known as Lignosus rhinocerus ) has the ability to cure numerous ailments. Its anticancer activities are well explored, and recently a partially purified cytotoxic protein fraction termed F5 from the mushroom's sclerotial cold water extract consisting mainly of fungal serine proteases was found to exhibit potent selective cytotoxicity against a human breast adenocarcinoma cell line (MCF7) with IC50 value of 3.00 μg/ml. However, characterization of its cell death-inducing activity has yet to be established...
2018: PeerJ
Maggie Morash, Hannah Mitchell, Anthony Yu, Thomas Campion, Himisha Beltran, Olivier Elemento, Jyotishman Pathak
The Cardiotoxicity of Chemotherapy Knowledgebase (CATCH-KB) contains information extracted from articles investigating an association between germline genetic polymorphisms and the development of chemotherapy-induced cardiotoxicity (CIC) in cancer patients receiving antineoplastic treatments. CATCH-KB also contains integrated gene and drug information from open biomedical resources such as PharmGKB1 and SIDER2 . Furthermore, the genetic polymorphisms, drugs, and cancer types detailed in CATCH-KB are standardized according to appropriate biomedical ontologies, such as SNOMED-CT3 and RxNorm4 ...
2018: AMIA Summits on Translational Science Proceedings
Rafid Salim Jabir, Gwo Fuang Ho, Muhammad Azrif Bin Ahmad Annuar, Johnson Stanslas
PURPOSE: Nonhematologic adverse events (AEs) of docetaxel constitute an extra burden in the treatment of cancer patients and necessitate either a dose reduction or an outright switch of docetaxel for other regimens. These AEs are frequently associated with genetic polymorphisms of genes encoding for proteins involved docetaxel disposition. Therefore, we investigated that association in Malaysian breast cancer patients. MATERIALS AND METHODS: A total of 110 Malaysian breast cancer patients were enrolled in the present study, and their blood samples were investigated for different single nucleotide polymorphisms using polymerase chain reaction restriction fragment length polymorphism...
May 4, 2018: Clinical Breast Cancer
Cielito C Reyes-Gibby, Jian Wang, Sai-Ching J Yeung, Patrick Chaftari, Robert K Yu, Ehab Y Hanna, Sanjay Shete
Neuropathic pain (NP), defined as pain initiated or caused by a primary lesion or dysfunction in the nervous system, is a debilitating chronic pain condition often resulting from cancer treatment. Among cancer patients, neuropathy during cancer treatment is a predisposing event for NP. To identify genetic variants influencing the development of NP, we conducted a genome-wide association study in 1,043 patients with squamous cell carcinoma of the head and neck, based on 714,494 tagging single-nucleotide polymorphisms (SNPs) (130 cases, 913 controls)...
June 8, 2018: Scientific Reports
Ippokratis Messaritakis, Maria Stogiannitsi, Asimina Koulouridi, Maria Sfakianaki, Alexandra Voutsina, Afroditi Sotiriou, Elias Athanasakis, Evangelos Xynos, Dimitris Mavroudis, Maria Tzardi, John Souglakos
BACKGROUND: Toll-like receptors (TLRs) play essential role in innate and acquired immunity, are expressed in various cell types, and are associated with altered susceptibility to many diseases, and cancers. The aim of this study was to investigate TLR2 (-196 to-174del), TLR4 (Asp299Gly and Thr399Ile) and TLR9 (T1237C and T1486C) gene polymorphisms at risk of colorectal cancer (CRC) development and progression. METHODS: Peripheral blood was obtained from 397 patients with adjuvant (stage II/III, n = 202) and metastatic (n = 195) CRC...
2018: PloS One
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