☆ 4.8 Article

The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma

NATURE GENETICS (2013)

期刊

NATURE GENETICS

卷 45, 期 5, 页码 522-U87

出版社

NATURE PUBLISHING GROUP

DOI: 10.1038/ng.2583

关键词

-

类别

Genetics & Heredity

资金

Myeloma UK
Leukaemia and Lymphoma Research [LLR 10021, LLR 11006]
Cancer Research UK [C1298/A8362]
Bobby Moore Fund
National Health Service (NHS) via the Biological Research Centre of the National Institute for Health Research at the Royal Marsden Hospital NHS Trust
Dietmar-Hopp-Stiftung Walldorf
University Hospital Heidelberg
Heinz-Nixdorf Foundation
German Federal Ministry of Education and Research (BMBF)

向作者/读者索取更多资源

Protocol

Reagent

摘要

A number of specific chromosomal abnormalities define the subgroups of multiple myeloma. In a meta-analysis of two genome-wide association studies of multiple myeloma including a total of 1,661 affected individuals, we investigated risk for developing a specific tumor karyotype. The t(11;14)(q13;q32) translocation in which CCND1 is placed under the control of the immunoglobulin heavy chain enhancer was strongly associated with the CCND1 c.870G>A polymorphism (P = 7.96 x 10(-11)). These results provide a model in which a constitutive genetic factor is associated with risk of a specific chromosomal translocation.

作者

我是这篇论文的作者

点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.8

评分不足

次要评分

新颖性

-

重要性

-

科学严谨性

-

评价这篇论文

推荐

Review Oncology

Multiple myeloma with t(11;14): unique biology and evolving landscape

Susan Bal, Shaji K. Kumar, Rafael Fonseca, Francesca Gay, Vania Tm Hungria, Ahmet Dogan, Luciano J. Costa

Summary: Multiple myeloma is a heterogeneous disease with diverse clinical presentations, treatment responses, and patient outcomes. The translocation of chromosomes 11 and 14 (t(11;14)) is the most common primary translocation event in multiple myeloma, and it is associated with unique biological features and potential for targeted therapy with BCL-2 inhibition.

AMERICAN JOURNAL OF CANCER RESEARCH (2022)

添加到收藏夹

Review Oncology

Multiple myeloma with t(11;14): unique biology and evolving landscape

Susan Bal, Shaji K. Kumar, Rafael Fonseca, Francesca Gay, Vania T. M. Hungria, Ahmet Dogan, Luciano J. Costa

Summary: Multiple myeloma with t(11;14) translocation exhibits unique biological and clinical features, posing both challenges and opportunities in treatment.

AMERICAN JOURNAL OF CANCER RESEARCH (2022)

添加到收藏夹

Article Oncology

Combination venetoclax and selinexor effective in relapsed refractory multiple myeloma with translocation t(11;14)

Nina Nguyen, Sana Chaudhry, Tulasigeri M. Totiger, Robert Diaz, Evan Roberts, Skye Montoya, Gabriel Pardo, Alejandro Pardo, Jumana Afaghani, Maurizio Affer, Jacob Jahn, Terrence Bradley, Francesco Maura, Dickran Kazandjian, Daniel Bilbao, Jennifer Chapman, Ola Landgren, James Hoffman, Justin Taylor

Summary: In this study, the safety and therapeutic effects of simultaneous administration of venetoclax and selinexor in patients with t(11;14) multiple myeloma were reported. The combination showed synergistic effects in t(11;14) multiple myeloma cell lines and resulted in decreased levels of Cyclin D1. These findings suggest that the combination of venetoclax and selinexor may be a promising approach for the treatment of multiple myeloma.

NPJ PRECISION ONCOLOGY (2022)

添加到收藏夹

Article Oncology

CD20 expression: A risk stratification factor for newly diagnosed multiple myeloma with t(11;14)

Yuan Jian, Zhiyao Zhang, Huixing Zhou, Guangzhong Yang, Chuanying Geng, Huijuan Wang, Wen Gao, Wenming Chen

Summary: This study investigated the clinical prognostic value of CD20 expression in multiple myeloma patients with t(11;14). The results showed that CD20 positivity was associated with lower serum creatine levels and a lower incidence of plasmacytoma. CD20 expression was correlated with longer overall survival and could be used as a risk stratification marker in this subgroup of patients.

FRONTIERS IN ONCOLOGY (2022)

添加到收藏夹

Article Oncology

Multiple myeloma with t(11;14): impact of novel agents on outcome

Borja Puertas, Veronica Gonzalez-Calle, Eduardo Sobejano-Fuertes, Fernando Escalante, Beatriz Rey-Bua, Irene Padilla, Ramon Garcia-Sanz, Noemi Puig, Norma C. C. Gutierrez, Maria-Victoria Mateos

Summary: This retrospective study investigated the prognostic impact of t(11;14) abnormality in multiple myeloma (MM) patients. Results showed that treatment with novel agents did not improve overall response rate or complete response rate compared to conventional therapy for MM patients with t(11;14). Survival rates were also similar between the two groups.

BLOOD CANCER JOURNAL (2023)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Incidence and effect of secondary cardiac amyloidosis on outcomes of patients with t(11;14) multiple myeloma

Jinghua Wang, Shuo Yang, Pengjun Liao, Lingji Zeng, Wei Ling, Li Wan, Jianyu Weng, Liye Zhong

Summary: The t(11;14) chromosome translocation is common in multiple myeloma (MM) and is associated with secondary cardiac amyloidosis. Patients with t(11;14) and cardiac amyloidosis have poorer prognosis. These findings have important implications for clinical and biological research.

FRONTIERS IN CARDIOVASCULAR MEDICINE (2022)

添加到收藏夹

Review Oncology

Exploring the current molecular landscape and management of multiple myeloma patients with the t(11;14) translocation

Michael D. D. Diamantidis, Sofia Papadaki, Evdoxia Hatjiharissi

Summary: Multiple myeloma is a genetically complex disease, and the t(11;14) translocation is the most common. Patients with this translocation often have BCL2 overexpression, and Venetoclax has shown significant activity in treating this subtype of myeloma.

FRONTIERS IN ONCOLOGY (2022)

添加到收藏夹

Article Oncology

Targeted Venetoclax Therapy in t(11;14) Multiple Myeloma: Real World Data From Seven Hungarian Centers

Virag Reka Szita, Gabor Mikala, Andras Kozma, Janos Fabian, Apor Hardi, Hussain Alizadeh, Peter Rajnics, Laszlo Rejto, Tamas Szendrei, Laszlo Varoczy, Zsolt Nagy, Arpad Illes, Istvan Valyi-Nagy, Tamas Masszi, Gergely Varga

Summary: Despite the introduction of novel agents, multiple myeloma remains incurable for most patients, necessitating further therapeutic options. Venetoclax, a selective BCL-2 inhibitor, shows promising results in patients with translocation t(11;14) myeloma. In the relapsed/refractory setting, Venetoclax demonstrates a high objective response rate and median survival. High risk features such as deletion 17p or renal failure do not appear to adversely affect the efficacy of Venetoclax.

PATHOLOGY & ONCOLOGY RESEARCH (2022)

添加到收藏夹

Article Oncology

African Americans with translocation t(11;14) have superior survival after autologous hematopoietic cell transplantation for multiple myeloma in comparison with Whites in the United States

Talha Badar, Parameswaran Hari, Omar Davila, Raphael Fraser, Baldeep Wirk, Binod Dhakal, Cesar O. Freytes, Cesar Rodriguez Valdes, Cindy Lee, David H. Vesole, Ehsan Malek, Gerhard C. Hildebrandt, Heather Landau, Hemant S. Murthy, Hillard M. Lazarus, Jesus G. Berdeja, Kenneth R. Meehan, Melhem Solh, Miguel Angel Diaz, Mohamed A. Kharfan-Dabaja, Natalie S. Callander, Nosha Farhadfar, Qaiser Bashir, Rammurti T. Kamble, Ravi Vij, Reinhold Munker, Robert A. Kyle, Saurabh Chhabra, Shahrukh Hashmi, Siddhartha Ganguly, Sundar Jagannath, Taiga Nishihori, Yago Nieto, Shaji Kumar, Nina Shah, Anita D'Souza

Summary: The study investigated the impact of t(11;14) on the clinical outcomes of multiple myeloma patients of African American and White descent who underwent autologous hematopoietic cell transplantation. The study found that African American patients with t(11;14) had superior overall survival compared to White patients with t(11;14), despite differences in age and comorbidity index. Race may play a differential role in the survival of MM patients with t(11;14) who undergo autoHCT.

CANCER (2021)

添加到收藏夹

Article Pathology

The incidence of translocation t(11;14) among patients with multiple myeloma in a single clinic

Scott Jew, Marissa-Skye Goldwater, Sean Bujarski, Bernard Regidor, Marsiye Emamy-Sadr, Regina Swift, Benjamin Eades, Jonathan Said, James R. Berenson

Summary: This study analyzed the rates of bone marrow sampling, cytogenetic testing, and the incidence rate of the t(11;14) translocation in a specialized clinic for multiple myeloma. The results showed an increase in cytogenetic testing rates in recent years and identified a 19.3% incidence rate for t(11;14). The study highlights the potential need for retesting for this genetic aberration to identify candidates for targeted therapy.

AMERICAN JOURNAL OF CLINICAL PATHOLOGY (2023)

添加到收藏夹

Article Biotechnology & Applied Microbiology

Expression of cyclin D1 and its relation with t(11;14)(q13;q32) and trisomy 11 in multiple myeloma patients

A. Kalal Akanksha, Kumari Sucheta, Krishna Rajesh, P. Bhat Shubha, Shetty Prashanth

Summary: This study found that trisomy 11, in addition to t(11;14) translocation, is associated with overexpression of cyclin D1 in multiple myeloma. These findings provide clues for the development of novel therapeutic targets.

RESEARCH JOURNAL OF BIOTECHNOLOGY (2022)

添加到收藏夹

Article Oncology

Transcriptomic Analysis in Multiple Myeloma and Primary Plasma Cell Leukemia with t(11;14) Reveals Different Expression Patterns with Biological Implications in Venetoclax Sensitivity

Katia Todoerti, Elisa Taiana, Noemi Puccio, Vanessa Favasuli, Marta Lionetti, Ilaria Silvestris, Massimo Gentile, Pellegrino Musto, Fortunato Morabito, Umberto Gianelli, Niccolo Bolli, Luca Baldini, Antonino Neri, Domenica Ronchetti

Summary: Studies have shown that MM and pPCL with t(11;14) translocation may respond differently to venetoclax based on different molecular programs, prompting further research to discover novel potential predictive biomarkers.

CANCERS (2021)

添加到收藏夹

Article Oncology

Filanesib plus bortezomib and dexamethasone in relapsed/refractory t(11;14) and 1q21 gain multiple myeloma

Darren Pan, Jonathan L. Kaufman, Myo Htut, Manish Agrawal, Amitabha Mazumder, Robert F. Cornell, Jeffrey A. Zonder, Joseph W. Fay, Manuel R. Modiano, Erin L. Moshier, Selena A. Rush, Brian J. Tunquist, Ajai Chari

Summary: Filanesib demonstrates safety and promising activity in combination with bortezomib and dexamethasone for relapsed/refractory multiple myeloma. Patients with 1q21 gain and t(11;14) show particularly encouraging progression-free survival rates.

CANCER MEDICINE (2022)

添加到收藏夹

Article Oncology

Palbociclib regulates the expression of dihydrofolate reductase and the cell cycle to inhibit t (11;14) multiple myeloma

Yazhu Wang, Huihan Wang, Xiaobin Wang

Summary: The study demonstrated that PAL has significant anti-cancer effects on t (11;14) MM cells, with synergistic effects when used in combination with PTX and MTX. PAL promotes cell cycle genes, increases the number of G1 phase MM cells, and exerts its anti-cancer effects by targeting DHFR.

ANNALS OF TRANSLATIONAL MEDICINE (2022)

添加到收藏夹

Article Hematology

Targeting BCL-2 with venetoclax and dexamethasone in patients with relapsed/refractory t(11;14) multiple myeloma

Jonathan L. Kaufman, Cristina Gasparetto, Fredrik H. Schjesvold, Philippe Moreau, Cyrille Touzeau, Thierry Facon, Lawrence H. Boise, Yanwen Jiang, Xiaoqing Yang, Fengjiao Dunbar, Deeksha Vishwamitra, Stefanie Unger, Tammy Macartney, John Pesko, Yao Yu, Ahmed Hamed Salem, Jeremy A. Ross, Wan-Jen Hong, Paulo C. Maciag, James M. Pauff, Shaji Kumar

Summary: Venetoclax (Ven) is a selective small-molecule BCL-2 inhibitor that exhibits antitumoral activity against MM cells with t(11;14) translocation. The combination of Ven and dexamethasone (VenDex) showed significant efficacy and manageable safety in patients with t(11;14) positive relapsed/refractory multiple myeloma.

AMERICAN JOURNAL OF HEMATOLOGY (2021)

添加到收藏夹

Article Psychiatry

Associations of common genetic risk variants of the muscarinic acetylcholine receptor M2 with cardiac autonomic dysfunction in patients with schizophrenia

Alexander Refisch, Shoko Komatsuzaki, Martin Ungelenk, Ha-Yeun Chung, Andy Schumann, Susann S. Schilling, Wibke Jantzen, Sabine Schroeder, Thomas W. Muehleisen, Markus M. Noethen, Christian A. Huebner, Karl-Jurgen Baer

Summary: This study found associations between CHRM2 polymorphisms and heart rate variability in patients with schizophrenia, suggesting a potential role for these genetic variations in cardiac autonomic dysfunction in schizophrenia.

WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY (2023)

添加到收藏夹

Letter Gastroenterology & Hepatology

Genetically proxied ketohexokinase function and risk of colorectal cancer: a Mendelian randomisation study

Amee M. Buziau, Philip J. Law, Gabriella Blokland, Casper Schalkwijk, Jean Scheijen, Pomme Simons, Carla van der Kallen, Simone Eussen, Pieter C. Dagnelie, Marleen van Greevenbroek, Richard S. Houlston, Anke Wesselius, Molly Went, Coen Stehouwer, Martijn C. G. J. Brouwers

GUT (2023)

添加到收藏夹

Article Audiology & Speech-Language Pathology

Non-linguistic auditory speech processing

Robert H. Margolis, Aparna Rao, Richard H. Wilson, George L. Saly

Summary: A method for testing auditory processing of non-linguistic speech-like stimuli was developed and evaluated. The results showed that the Senior group scored lower than the Normal group, and the Hearing Loss group scored lower than the Senior group. Age and hearing loss separately affected performance.

INTERNATIONAL JOURNAL OF AUDIOLOGY (2023)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Elucidation of the genetic causes of bicuspid aortic valve disease

Jan Gehlen, Anja Stundl, Radoslaw Debiec, Federica Fontana, Markus Krane, Dinara Sharipova, Christopher P. Nelson, Baravan Al-Kassou, Ann Sophie Giel, Jan Malte Sinning, Christopher M. H. Bruenger, Carolin F. Zelck, Laura L. Koebbe, Peter S. Braund, Thomas R. Webb, Simon Hetherington, Stephan Ensminger, Buntaro Fujita, Salah A. Mohamed, Malakh Shrestha, Heike Krueger, Matthias Siepe, Fabian Alexander Kari, Peter Nordbeck, Larissa Buravezky, Malte Kelm, Verena Veulemans, Matti Adam, Stephan Baldus, Karl Ludwig Laugwitz, Yannick Haas, Matthias Karck, Uwe Mehlhorn, Lars Oliver Conzelmann, Ingo Breitenbach, Corinna Lebherz, Paul Urbanski, Won Keun Kim, Joscha Kandels, David Ellinghaus, Ulrike Nowak-Goettl, Per Hoffmann, Felix Wirth, Stefanie Doppler, Harald Lahm, Martina Dressen, Moritz von Scheidt, Katharina Knoll, Thorsten Kessler, Christian Hengstenberg, Heribert Schunkert, Georg Nickenig, Markus M. Noethen, Aidan P. Bolger, Salim Abdelilah-Seyfried, Nilesh J. Samani, Jeanette Erdmann, Teresa Trenkwalder, Johannes Schumacher

Summary: This study provides deeper insights into the genetic risk architecture of bicuspid aortic valve (BAV) disease, including both single-marker and polygenic levels. The study identified a new risk locus and confirmed previously reported risk loci. Additionally, the study revealed that the transcriptome profile in endothelial cells plays a major role in the pathology of BAV.

CARDIOVASCULAR RESEARCH (2023)

添加到收藏夹

Article Hematology

Whole-genome analysis identifies novel drivers and high-risk double-hit events in relapsed/refractory myeloma

Naser Ansari-Pour, Mehmet Samur, Erin Flynt, Sarah Gooding, Fadi Towfic, Nicholas Stong, Maria Ortiz Estevez, Konstantinos Mavrommatis, Brian Walker, Gareth Morgan, Nikhil Munshi, Herve Avet-Loiseau, Anjan Thakurta

Summary: Large-scale analysis of relapsed/refractory multiple myeloma (rrMM) shows significant genomic variation compared to newly diagnosed multiple myeloma (ndMM). This variation may be associated with therapeutic exposures and clonal structure. Genomic aberrations associated with resistance to immunomodulatory agent (IMiD) therapy are identified and their role in therapy evasion should be further evaluated.

BLOOD (2023)

添加到收藏夹

Article Genetics & Heredity

Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries

Ceres Fernandez-Rozadilla, Maria Timofeeva, Zhishan Chen, Philip Law, Minta Thomas, Stephanie Bien, Virginia Diez-Obrero, Li Li, Juan Fernandez-Tajes, Claire Palles, Kitty Sherwood, Sarah Harris, Victoria Svinti, Kevin McDonnell, Susan Farrington, James Studd, Peter Vaughan-Shaw, Xiao-ou Shu, Jirong Long, Qiuyin Cai, Xingyi Guo, Yingchang Lu, Peter Scacheri, James Studd, Jeroen Huyghe, Tabitha Harrison, David Shibata, Christopher Haiman, Mathew Devall, Fredrick Schumacher, Marilena Melas, Gad Rennert, Mireia Obon-Santacana, Vicente Martin-Sanchez, Ferran Moratalla-Navarro, Jae Hwan Oh, Jeongseon Kim, Sun Ha Jee, Keum Ji Jung, Sun-Seog Kweon, Min-Ho Shin, Aesun Shin, Yoon-Ok Ahn, Dong-Hyun Kim, Isao Oze, Wanqing Wen, Keitaro Matsuo, Koichi Matsuda, Chizu Tanikawa, Zefang Ren, Yu-Tang Gao, Wei-Hua Jia, John Potter, Mark Jenkins, Aung Ko Win, Rish Pai, Jane Figueiredo, Robert Haile, Steven Gallinger, Michael Woods, Polly Newcomb, David Shibata, Jeremy Cheadle, Richard Kaplan, Timothy Maughan, Rachel Kerr, David Kerr, Iva Kirac, Jan Boehm, Lukka-Pekka Mecklin, Pekka Jousilahti, Paul Knekt, Lauri Aaltonen, Harri Rissanen, Eero Pukkala, Johan Eriksson, Tatiana Cajuso, Ulrika Hanninen, Johanna Kondelin, Kimmo Palin, Tomas Tanskanen, Laura Renkonen-Sinisalo, Brent Zanke, Satu Mannisto, Demetrius Albanes, Stephanie Weinstein, Edward Ruiz-Narvaez, Julie Palmer, Daniel Buchanan, Elizabeth Platz, Kala Visvanathan, Cornelia Ulrich, Erin Siegel, Stefanie Brezina, Andrea Gsur, Peter Campbell, Jenny Chang-Claude, Michael Hoffmeister, Hermann Brenner, Martha Slattery, John Potter, Konstantinos Tsilidis, Matthias Schulze, Marc Gunter, Neil Murphy, Antoni Castells, Sergi Castellvi-Bel, Leticia Moreira, Volker Arndt, Anna Shcherbina, Mariana Stern, Bens Pardamean, Timothy Bishop, Graham Giles, Melissa Southey, Gregory Idos, Kevin McDonnell, Zomoroda Abu-Ful, Joel Greenson, Katerina Shulman, Flavio Lejbkowicz, Kenneth Offit, Yu-Ru Su, Robert Steinfelder, Temitope Keku, Bethany van Guelpen, Thomas Hudson, Heather Hampel, Rachel Pearlman, Sonja Berndt, Richard Hayes, Marie Elena Martinez, Sushma Thomas, Douglas Corley, Paul Pharoah, Susanna Larsson, Yun Yen, Heinz-Josef Lenz, Emily White, Li Li, Kimberly Doheny, Elizabeth Pugh, Tameka Shelford, Andrew Chan, Marcia Cruz-Correa, Annika Lindblom, David Shibata, Amit Joshi, Clemens Schafmayer, Peter Scacheri, Anshul Kundaje, Deborah Nickerson, Robert Schoen, Jochen Hampe, Zsofia Stadler, Pavel Vodicka, Ludmila Vodickova, Veronika Vymetalkova, Nickolas Papadopoulos, Chistopher Edlund, William Gauderman, Duncan Thomas, David Shibata, Amanda Toland, Sanford Markowitz, Andre Kim, Stephen Gruber, Franzel van Duijnhoven, Edith Feskens, Lori Sakoda, Manuela Gago-Dominguez, Alicja Wolk, Alessio Naccarati, Barbara Pardini, Liesel FitzGerald, Soo Chin Lee, Shuji Ogino, Stephanie Bien, Charles Kooperberg, Christopher Li, Yi Lin, Ross Prentice, Conghui Qu, Stephane Bezieau, Catherine Tangen, Elaine Mardis, Taiki Yamaji, Norie Sawada, Motoki Iwasaki, Christopher Haiman, Loic Le Marchand, Anna Wu, Chenxu Qu, Caroline McNeil, Gerhard Coetzee, Caroline Hayward, Ian Deary, Sarah Harris, Evropi Theodoratou, Stuart Reid, Marion Walker, Li Yin Ooi, Victor Moreno, Graham Casey, Stephen Gruber, Ian Tomlinson, Wei Zheng, Malcolm Dunlop, Richard Houlston, Ulrike Peters

Summary: This study identified 205 independent risk associations for colorectal cancer through a genome-wide association study meta-analysis. Transcriptome and methylome analysis further revealed 53 risk associations. These findings provide insights into the genetic and molecular mechanisms of colorectal oncogenesis and suggest potential targets for new treatment and prevention strategies.

NATURE GENETICS (2023)

添加到收藏夹

Article Oncology

Alternative splicing in multiple myeloma is associated with the non-homologous end joining pathway

Enze Liu, Nathan Becker, Parvathi Sudha, Chuanpeng Dong, Yunlong Liu, Jonathan Keats, Gareth Morgan, Brian A. Walker

Summary: Alternative splicing is important in tumorigenesis and proliferation of multiple myeloma. Comprehensive genomic annotation of newly diagnosed myeloma patients revealed differentially spliced events associated with primary translocations, 1q amplification, and DIS3 events. The splicing levels correlated with expression of splicing factors. Furthermore, the non-homologous end joining pathway was linked to increased splicing frequency and structural variants. These findings suggest a joint pathogenic role for DNA damage response and alternative RNA processing in myeloma.

BLOOD CANCER JOURNAL (2023)

添加到收藏夹

Article Neurosciences

Relationships between neurotransmitter receptor densities and expression levels of their corresponding genes in the human hippocampus

Ling Zhao, Thomas W. Muehleisen, Dominique I. Pelzer, Bettina Burger, Eva C. Beins, Andreas J. Forstner, Stefan Herms, Per Hoffmann, Katrin Amunts, Nicola Palomero-Gallagher, Sven Cichon

Summary: Neurotransmitter receptors play a crucial role in signal transmission and their dysfunction is linked to brain disorders. The connection between receptors and their corresponding genes, especially in humans, is not well understood. In this study, both receptor densities and gene expression levels were quantified in the human hippocampus to investigate the relationship. The results showed that differences in receptor densities were mainly observed in metabotropic receptors, while differences in gene expression levels mainly pertained to ionotropic receptors. Furthermore, the correlation between receptor densities and gene expression levels varied widely and was generally weak-to-moderate, indicating that post-translational factors also influence receptor densities.

NEUROIMAGE (2023)

添加到收藏夹

Editorial Material Medicine, General & Internal

Realistic expectations are key to realising the benefits of polygenic scores

Amit Sud, Rachel H. Horton, Aroon D. Hingorani, Ioanna Tzoulaki, Clare Turnbull, Richard S. Houlston, Anneke Lucassen

BMJ-BRITISH MEDICAL JOURNAL (2023)

添加到收藏夹

Article Multidisciplinary Sciences

Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations

Minta Thomas, Yu-Ru Su, Elisabeth A. Rosenthal, Lori C. Sakoda, Stephanie L. Schmit, Maria N. Timofeeva, Zhishan Chen, Ceres Fernandez-Rozadilla, Philip J. Law, Neil Murphy, Robert Carreras-Torres, Virginia Diez-Obrero, Franzel J. B. van Duijnhoven, Shangqing Jiang, Aesun Shin, Alicja Wolk, Amanda I. Phipps, Andrea Burnett-Hartman, Andrea Gsur, Andrew T. Chan, Ann G. Zauber, Anna H. Wu, Annika Lindblom, Caroline Y. Um, Catherine M. Tangen, Chris Gignoux, Christina Newton, Christopher A. Haiman, Conghui Qu, D. Timothy Bishop, Daniel D. Buchanan, David R. Crosslin, David V. Conti, Dong-Hyun Kim, Elizabeth Hauser, Emily White, Erin Siegel, Fredrick R. Schumacher, Gad Rennert, Graham G. Giles, Heather Hampel, Hermann Brenner, Isao Oze, Jae Hwan Oh, Jeffrey K. Lee, Jennifer L. Schneider, Jenny Chang-Claude, Jeongseon Kim, Jeroen R. Huyghe, Jiayin Zheng, Jochen Hampe, Joel Greenson, John L. Hopper, Julie R. Palmer, Kala Visvanathan, Keitaro Matsuo, Koichi Matsuda, Keum Ji Jung, Li Li, Loic Le Marchand, Ludmila Vodickova, Luis Bujanda, Marc J. Gunter, Marco Matejcic, Mark A. Jenkins, Martha L. Slattery, Mauro D'Amato, Meilin Wang, Michael Hoffmeister, Michael O. Woods, Michelle Kim, Mingyang Song, Motoki Iwasaki, Mulong Du, Natalia Udaltsova, Norie Sawada, Pavel Vodicka, Peter T. Campbell, Polly A. Newcomb, Qiuyin Cai, Rachel Pearlman, Rish K. Pai, Robert E. Schoen, Robert S. Steinfelder, Robert W. Haile, Rosita Vandenputtelaar, Ross L. Prentice, Sebastien Kuery, Sergi Castellvi-Bel, Shoichiro Tsugane, Sonja I. Berndt, Soo Chin Lee, Stefanie Brezina, Stephanie J. Weinstein, Stephen J. Chanock, Sun Ha Jee, Sun-Seog Kweon, Susan Vadaparampil, Tabitha A. Harrison, Taiki Yamaji, Temitope O. Keku, Veronika Vymetalkova, Volker Arndt, Wei-Hua Jia, Xiao-Ou Shu, Yi Lin, Yoon-Ok Ahn, Zsofia K. Stadler, Bethany Van Guelpen, Cornelia M. Ulrich, Elizabeth A. Platz, John D. Potter, Christopher I. Li, Reinier Meester, Victor Moreno, Jane C. Figueiredo, Graham Casey, Iris Lansdorp Vogelaar, Malcolm G. Dunlop, Stephen B. Gruber, Richard B. Hayes, Paul D. P. Pharoah, Richard S. Houlston, Gail P. Jarvik, Ian P. Tomlinson, Wei Zheng, Douglas A. Corley, Ulrike Peters, Li Hsu

Summary: Polygenic risk scores (PRS) have the potential to guide precision colorectal cancer (CRC) prevention, but current PRS using European ancestry data do not perform well in non-European ancestry populations. In this study, Asian ancestry data was incorporated to improve the performance of PRS, and it was found to be significantly better in different racial and ethnic groups.

NATURE COMMUNICATIONS (2023)

添加到收藏夹

Article Oncology

Identifying novel mechanisms of biallelic TP53 loss refines poor outcome for patients with multiple myeloma

Enze Liu, Parvathi Sudha, Nathan Becker, Oumaima Jaouadi, Attaya Suvannasankha, Kelvin Lee, Rafat Abonour, Mohammad Abu Zaid, Brian A. Walker

Summary: Biallelic TP53 inactivation is associated with poor survival in multiple myeloma. In this study, we identified novel biallelic TP53 samples in multiple myeloma patients. We established a model based on differentially expressed genes to accurately identify these samples. The survival rate of patients with classical and novel biallelic TP53 samples was consistently worse, and these samples exhibited copy number loss and aberrant splicing.

BLOOD CANCER JOURNAL (2023)

添加到收藏夹

Article Oncology

Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival

Anna Morra, Maartje A. C. Schreurs, Irene L. Andrulis, Hoda Anton-Culver, Annelie Augustinsson, Matthias W. Beckmann, Sabine Behrens, Stig E. Bojesen, Manjeet K. Bolla, Hiltrud Brauch, Annegien Broeks, Saundra S. Buys, Nicola J. Camp, Jose E. Castelao, Melissa H. Cessna, Jenny Chang-Claude, Wendy K. Chung, Sarah Colonna, Fergus J. Couch, Angela Cox, Simon S. Cross, Kamila Czene, Mary B. Daly, Joe Dennis, Peter Devilee, Thilo Doerk, Alison M. Dunning, Miriam Dwek, Douglas F. Easton, Diana M. Eccles, Mikael Eriksson, D. Gareth Evans, Peter A. Fasching, Tanja N. Fehm, Jonine D. Figueroa, Henrik Flyger, Marike Gabrielson, Manuela Gago-Dominguez, Montserrat Garcia-Closas, Jose A. Garcia-Saenz, Jeanine A. Genkinger, Felix Grassmann, Melanie Guendert, Eric Hahnen, Christopher Haiman, Ute Hamann, Patricia A. Harrington, Jaana M. Hartikainen, Reiner Hoppe, John L. Hopper, Richard S. Houlston, Anthony Howell, Anna Jakubowska, Wolfgang Janni, Helena Jernstroem, Esther M. John, Nichola Johnson, Michael E. Jones, Vessela N. Kristensen, Allison Kurian, Diether Lambrechts, Loic Le Marchand, Annika Lindblom, Jan Lubinski, Michael P. Lux, Arto Mannermaa, Dimitrios Mavroudis, Anna Marie Mulligan, Taru A. Muranen, Heli Nevanlinna, Ines Nevelsteen, Patrick Neven, William G. Newman, Nadia Obi, Kenneth Offit, Andrew F. Olshan, Tjoung-Won Park-Simon, Alpa Patel, Paolo Peterlongo, Kelly-Anne Phillips, Dijana Plaseska-Karanfilska, Eric C. Polley, Nadege Presneau, Katri Pylkas, Brigitte Rack, Paolo Radice, Muhammad U. Rashid, Valerie Rhenius, Mark Robson, Atocha Romero, Emmanouil Saloustros, Elinor J. Sawyer, Rita K. Schmutzler, Sabine Schuetze, Christopher Scott, Mitul T. Shah, Snezhana Smichkoska, Melissa C. Southey, William J. Tapper, Lauren R. Teras, Rob A. E. M. Tollenaar, Katarzyna Tomczyk, Ian Tomlinson, Melissa Troester, Celine Vachon, Elke van Veen, Qin Wang, Camilla Wendt, Hans Wildiers, Robert A. Winqvist, Argyrios Ziogas, Per Hall, Paul D. P. Pharoah, Muriel Adank, Antoinette Hollestelle, Marjanka K. Schmidt, Maartje Hooning

Summary: Breast cancer patients with the CHEK2 c.1100delC variant have an increased risk of contralateral breast cancer and worse survival. Systemic therapy is associated with reduced contralateral breast cancer risk, regardless of CHEK2 c.1100delC status. Patients with the CHEK2 c.1100delC variant have shorter survival, which is not fully explained by their contralateral breast cancer risk.

CANCER MEDICINE (2023)

添加到收藏夹

Meeting Abstract Biochemistry & Molecular Biology

Estimating the prevalence of pathogenic germline variants in cancer susceptibility genes in 1,336 cases of renal cell carcinoma

Bryndis Yngvadottir, Avgi Andreou, Laia Bassaganyas, Alexey Larionov, Alex J. Cornish, Daniel Chubb, Charlie N. Saunders, Philip Smith, Huairen Zhang, Yasemin Cole, James Larkin, Lisa Browning, Samra Turajlic, Kevin Litchfield, Richard S. Houlston, Eamonn R. Maher

EUROPEAN JOURNAL OF HUMAN GENETICS (2023)

添加到收藏夹

Meeting Abstract Biochemistry & Molecular Biology

Generation and characterisation of induced pluripotent stem cell-derived microglia to study the influence of genetic risk for depression on microglial functions

Eva Beins, Ronja Hollstein, Kerstin Ludwig, Per Hoffmann, Markus M. Noethen, Andreas Forstner

EUROPEAN JOURNAL OF HUMAN GENETICS (2023)

添加到收藏夹

Review Psychiatry

Addressing Global Environmental Challenges to Mental Health Using Population Neuroscience

Gunter Schumann, Ole A. Andreassen, Tobias Banaschewski, Vince D. Calhoun, Nicholas Clinton, Sylvane Desrivieres, Ragnhild Eek Brandlistuen, Jianfeng Feng, Soeren Hese, Esther Hitchen, Per Hoffmann, Tianye Jia, Viktor Jirsa, Andre F. Marquand, Frauke Nees, Markus M. Noethen, Gaia Novarino, Elli Polemiti, Markus Ralser, Michael Rapp, Kerstin Schepanski, Tamara Schikowski, Mel Slater, Peter Sommer, Bernd Carsten Stahl, Paul M. Thompson, Sven Twardziok, Dennis van der Meer, Henrik Walter, Lars Westlye

Summary: Climate change, pollution, urbanization, socioeconomic inequality, and the COVID-19 pandemic have affected brain health. Research using innovative data integration tools can identify brain mechanisms underlying environment-related mental illness and inform innovative treatments. This research will lead to the development of objective biomarkers and evidence-based interventions to improve outcomes of environment-related mental illness.

JAMA PSYCHIATRY (2023)

添加到收藏夹

暂无数据

© Peeref 2019-2024. All rights reserved.