Article
Endocrinology & Metabolism
Weixing Qu, Fuzhou Zhang, Yongyi Cheng, Jing Li, Jiancheng Zhou
Summary: CYP2C8 genetic polymorphisms are significantly associated with bladder cancer susceptibility. Certain SNPs increase the risk of bladder cancer, while others have protective effects. MDR analysis identified a specific combination of SNPs as the best model for predicting bladder cancer.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Genetics & Heredity
Hampig Raphael Kourie, Bahaa Succar, Eliane Chouery, Cybel Mehawej, Nizar Ahmadieh, Joseph Zouein, Avedis Mardirossian, Nadine Jalkh, Ghassan Sleilaty, Joseph Kattan, Elie Nemr
Summary: A study on 51 Lebanese bladder cancer patients revealed that most known exonic variants were not associated with the cancer, although 11 common SNPs showed statistically significant differences in allelic frequencies without correlating to higher bladder cancer risk.
BMC MEDICAL GENOMICS
(2022)
Article
Multidisciplinary Sciences
Stanley Teleka, Marju Orho-Melander, Fredrik Liedberg, Olle Melander, Karin Jirstrom, Tanja Stocks
Summary: This study found a potential additive interaction between genetic susceptibility for bladder cancer, blood pressure, and the risk of aggressive urothelial cancer in men. If replicated, these findings may provide insights for preventing aggressive urothelial cancer.
SCIENTIFIC REPORTS
(2022)
Article
Genetics & Heredity
Xi Wang, Zheng Guo, Huanhuan Zhu, Junyi Xin, Lin Yuan, Chao Qin, Meilin Wang, Zhengdong Zhang, Yunyan Wang, Haiyan Chu
Summary: The study suggests that the rs978416 G>A SNP in RBFOX3 may be associated with bladder cancer predisposition in the Chinese population and could potentially serve as a novel biomarker for bladder cancer risk. The protective effect of rs978416 was more significant in the subgroup of low grade and non-muscle invasive bladder cancer. Additionally, RBFOX3 mRNA expression was found to be decreased in bladder tumor tissues.
Article
Toxicology
Hanting Liu, Jingjing Gu, Yu Jin, Qi Yuan, Gaoxiang Ma, Mulong Du, Yuqiu Ge, Chao Qin, Qiang Lv, Guangbo Fu, Meilin Wang, Haiyan Chu, Lin Yuan, Zhengdong Zhang
Summary: The study investigated the association between genetic variants in m(6)A-switches and bladder cancer risk, identifying a significant effect of a specific SNP in the SOD2 gene on reducing bladder cancer risk. It was also found that SOD2 may regulate its expression through an m(6)A-hnRNP C dependent mechanism, playing a crucial role in suppressing bladder cancer cell growth and invasion.
ARCHIVES OF TOXICOLOGY
(2021)
Article
Toxicology
Zhichao Han, Jingjing Gu, Junyi Xin, Hanting Liu, Yanling Wu, Mulong Du, Haiyan Chu, Yadong Liu, Zhengdong Zhang
Summary: This study investigated the association between genetic variants in the choline metabolism pathway and bladder cancer susceptibility. The results showed that the C allele of rs6810830 in ENPP6 was a significant protective allele for bladder cancer. Additionally, the study found that the expression of ENPP6 was decreased in bladder tumors and high expression was associated with worse overall survival in bladder cancer patients.
ARCHIVES OF TOXICOLOGY
(2022)
Article
Genetics & Heredity
Joseph S. Baxter, Nichola Johnson, Katarzyna Tomczyk, Andrea Gillespie, Sarah Maguire, Rachel Brough, Laura Fachal, Kyriaki Michailidou, Manjeet K. Bolla, Qin Wang, Joe Dennis, Thomas U. Ahearn, Irene L. Andrulis, Hoda Anton-Culver, Natalia N. Antonenkova, Volker Arndt, Kristan J. Aronson, Annelie Augustinsson, Heiko Becher, Matthias W. Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Natalia Bogdanova, Stig E. Bojesen, Hermann Brenner, Sara Y. Brucker, Qiuyin Cai, Daniele Campa, Federico Canzian, Jose E. Castelao, Tsun L. Chan, Jenny Chang-Claude, Stephen J. Chanock, Georgia Chenevix-Trench, Ji-Yeob Choi, Christine L. Clarke, Nbcs Collaborators, Sarah Colonna, Don M. Conroy, Fergus J. Couch, Angela Cox, Simon S. Cross, Kamila Czene, Mary B. Daly, Peter Devilee, Thilo Doerk, Laure Dossus, Miriam Dwek, Diana M. Eccles, Arif B. Ekici, A. Heather Eliassen, Christoph Engel, Peter A. Fasching, Jonine Figueroa, Henrik Flyger, Manuela Gago-Dominguez, Chi Gao, Montserrat Garcia-Closas, Jose A. Garcia-Saenz, Maya Ghoussaini, Graham G. Giles, Mark S. Goldberg, Anna Gonzalez-Neira, Pascal Guenel, Melanie Guendert, Lothar Haeberle, Eric Hahnen, Christopher A. Haiman, Per Hall, Ute Hamann, Mikael Hartman, Sigrid Hatse, Jan Hauke, Antoinette Hollestelle, Reiner Hoppe, John L. Hopper, Ming-Feng Hou, Hidemi Ito, Motoki Iwasaki, Agnes Jager, Anna Jakubowska, Wolfgang Janni, Esther M. John, Vijai Joseph, Audrey Jung, Rudolf Kaaks, Daehee Kang, Renske Keeman, Elza Khusnutdinova, Sung-Won Kim, Veli-Matti Kosma, Peter Kraft, Vessela N. Kristensen, Katerina Kubelka-Sabit, Allison W. Kurian, Ava Kwong, James Lacey, Diether Lambrechts, Nicole L. Larson, Susanna C. Larsson, Loic Le Marchand, Flavio Lejbkowicz, Jingmei Li, Jirong Long, Artitaya Lophatananon, Jan LubiNski, Arto Mannermaa, Mehdi Manoochehri, Siranoush Manoukian, Sara Margolin, Keitaro Matsuo, Dimitrios Mavroudis, Rebecca Mayes, Usha Menon, Roger L. Milne, Nur Aishah Mohd Taib, Kenneth Muir, Taru A. Muranen, Rachel A. Murphy, Heli Nevanlinna, Katie M. O'Brien, Kenneth Offit, Janet E. Olson, Hakan Olsson, Sue K. Park, Tjoung-Won Park-Simon, Alpa Patel, Paolo Peterlongo, Julian Peto, Dijana Plaseska-Karanfilska, Nadege Presneau, Katri Pylkas, Brigitte Rack, Gad Rennert, Atocha Romero, Matthias Ruebner, Thomas Ruediger, Emmanouil Saloustros, Dale P. Sandler, Elinor J. Sawyer, Marjanka K. Schmidt, Rita K. Schmutzler, Andreas Schneeweiss, Minouk J. Schoemaker, Mitul Shah, Chen-Yang Shen, Xiao-Ou Shu, Jacques Simard, Melissa C. Southey, Jennifer Stone, Harald Surowy, Anthony J. Swerdlow, Rulla M. Tamimi, William J. Tapper, Jack A. Taylor, Soo Hwang Teo, Lauren R. Teras, Mary Beth Terry, Amanda E. Toland, Ian Tomlinson, Therese Truong, Chiu-Chen Tseng, Michael Untch, Celine M. Vachon, Ans M. W. van den Ouweland, Sophia S. Wang, Clarice R. Weinberg, Camilla Wendt, Stacey J. Winham, Robert Winqvist, Alicja Wolk, Anna H. Wu, Taiki Yamaji, Wei Zheng, Argyrios Ziogas, Paul D. P. Pharoah, Alison M. Dunning, Douglas F. Easton, Stephen J. Pettitt, Christopher J. Lord, Syed Haider, Nick Orr, Olivia Fletcher
Summary: The integration of genetic and functional approaches identified three independent breast cancer risk loci at 2q35, pinpointing credible causal variants at these locations. A putative regulatory element was identified to enhance transcription of the tumor suppressor gene IGFBP5, leading to a reduced risk of estrogen receptor-positive breast cancer.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Oncology
Alexander Pemov, Talia Wegman-Ostrosky, Jung Kim, Stella Koutros, Brenna Douthitt, Kristine Jones, Bin Zhu, Dalsu Baris, Molly Schwenn, Alison Johnson, Margaret R. Karagas, Brian D. Carter, Marjorie L. McCullough, Maria Teresa Landi, Neal D. Freedman, Demetrius Albanes, Debra T. Silverman, Nathaniel Rothman, Neil E. Caporaso, Mark H. Greene, Joseph F. Fraumeni, Douglas R. Stewart
Summary: Previous studies have shown a two-fold elevation in the relative risk of urinary bladder cancer among individuals with a family history, indicating a potential genetic component. Multiple genome-wide association studies and gene panel sequencing studies have identified some genetic loci associated with UBC risk, but the full list remains incomplete.
JCO PRECISION ONCOLOGY
(2021)
Article
Multidisciplinary Sciences
Joao Fadista, Victor Yakimov, Urmo Vosa, Christine S. Hansen, Silva Kasela, Line Skotte, Frank Geller, Julie Courraud, Tonu Esko, Viktorija Kukuskina, Alfonso Buil, Mads Melbye, Thomas M. Werge, David M. Hougaard, Lili Milani, Jonas Bybjerg-Grauholm, Arieh S. Cohen, Bjarke Feenstra
Summary: Genetic variations in the SMOX gene are strongly associated with SMOX activity, but genetically determined SMOX activity is not significantly associated with the risk of neuroblastoma, gastric, lung, breast, prostate, and colorectal cancers.
SCIENTIFIC REPORTS
(2021)
Article
Oncology
Pan Tian, Mengjie Zhong, Gong-Hong Wei
Summary: Prostate cancer is the second most common cancer in men, with nearly 270 genetic loci harboring hundreds of SNPs associated with susceptibility. Noncoding SNPs associated with PCa risk may dysregulate gene expression by modulating transcription factor chromatin binding and allelic enhancer activity. Additionally, one-causal-variant-two-risk genes or multiple-risk-variant-multiple-genes are prevalent in some PCa risk-associated loci.
Article
Medicine, Research & Experimental
Jee-Heun Kim, So-Yeon Park, So-El Jeon, Jang-Hyun Choi, Choong-Jae Lee, Tae-Young Jang, Hyeon-Ji Yun, Yuno Lee, Pilho Kim, Sang Hee Cho, Ji Shin Lee, Jeong-Seok Nam
Summary: This study identifies a novel mechanism by which DCLK1 regulates the aggressiveness of colorectal cancer (CRC). The researchers found that DCLK1 binds and phosphorylates XRCC5, which leads to the activation of cyclooxygenase-2 and enhanced prostaglandin E2 production, resulting in an inflammatory tumor microenvironment and increased aggressiveness of CRC cells. The inhibition of DCLK1 kinase activity was shown to impair tumor seeding and growth in CRC mouse models. This study expands the understanding of the biological function of DCLK1 in CRC.
Article
Multidisciplinary Sciences
Gh Rasool Bhat, Itty Sethi, Amrita Bhat, Sonali Verma, Divya Bakshi, Bhanu Sharma, Muddasser Nazir, Khursheed A. Dar, Deepak Abrol, Ruchi Shah, Rakesh Kumar
Summary: This study focused on the genetic association of lung cancer risk, discovering significant genetic variants associated with non-small cell lung cancer.
SCIENTIFIC REPORTS
(2021)
Article
Cell Biology
Sally Mortlock, Rosario Corona, Pik Fang Kho, Paul Pharoah, Ji-Heui Seo, Matthew L. Freedman, Simon A. Gayther, Matthew T. Siedhoff, Peter A. W. Rogers, Ronald Leuchter, Christine S. Walsh, Ilana Cass, Beth Y. Karlan, B. J. Rimel, Grant W. Montgomery, Kate Lawrenson, Siddhartha P. Kar
Summary: A study found a significant genetic correlation between endometriosis and epithelial ovarian cancers, with differences in the shared risk suggesting different underlying pathways. Functional annotation using transcriptomic and epigenomic profiles identified several target genes.
CELL REPORTS MEDICINE
(2022)
Article
Oncology
Joseph L. Sottnik, Lauren Vanderlinden, Molishree Joshi, Ana Chauca-Diaz, Charles Owens, Donna E. Hansel, Colin Sempeck, Debashis Ghosh, Dan Theodorescu
Summary: The research indicates that androgen receptor plays a crucial role in the development of bladder cancer. Mechanisms related to AR in response to androgen stimulation in bladder cancer cells were identified through chromatin immunoprecipitation sequencing and transcriptomic approaches. The discovery of a novel transcriptional repression element associated with CD44 highlights the potential significance of CD44 and AR expression in prognostication and therapeutic selection for bladder cancer.
Article
Oncology
Evan Yi-Wen Yu, Qiu-Yi Tang, Ya-Ting Chen, Yan-Xi Zhang, Ya-Nan Dai, Yu-Xuan Wu, Wen-Chao Li, Siamak Mehrkanoon, Shi-Zhi Wang, Maurice P. Zeegers, Anke Wesselius
Summary: This study identified several significant SNP-SNP interactions related to bladder cancer risk and developed an integrated risk score model for bladder cancer screening. The findings provide important insights for risk assessment and early detection of bladder cancer.
INTERNATIONAL JOURNAL OF CANCER
(2023)