☆ 4.2 Review

Genetic modifiers of cancer risk in Lynch syndrome: a review

FAMILIAL CANCER (2013)

Journal

FAMILIAL CANCER

Volume 12, Issue 2, Pages 207-216

Publisher

SPRINGER

DOI: 10.1007/s10689-013-9614-2

Keywords

Lynch syndrome; Modifier genes; Disease expression; CRC susceptibility loci

Categories

Oncology Genetics & Heredity

Ask authors/readers for more resources

Protocol

Community support

Reagent

Community support

Abstract

The report by Aldred Scott Warthin in 1913 of a cancer family history and expanded on by Henry T. Lynch demonstrated one of the most enduring traits observed in patients with Lynch syndrome. The recognition of a variety of malignancies occurring at differing ages within a single family suggested the role of genetic variance on disease expression in an autosomal dominantly inherited genetic condition. With the identification of the genetic basis of Lynch syndrome and the subsequent collection of families and their medical records it has become possible to identify subtle genetic effects that influence the age at which disease onset occurs in this cancer predisposition. Knowledge about genetic modifiers influencing disease expression has the potential to be used to personalise prophylactic screening measures to maximise the benefits for family members and their carers.

Authors

I am an author on this paper

Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.2

Not enough ratings

Secondary Ratings

Novelty

-

Significance

-

Scientific rigor

-

Rate this paper

Recommended

Article Rheumatology

Combined genetic analysis of juvenile idiopathic arthritis clinical subtypes identifies novel risk loci, target genes and key regulatory mechanisms

Elena Lopez-Isac, Samantha L. Smith, Miranda C. Marion, Abigail Wood, Marc Sudman, Annie Yarwood, Chenfu Shi, Vasanthi Priyadarshini Gaddi, Paul Martin, Sampath Prahalad, Stephen Eyre, Gisela Orozco, Andrew P. Morris, Carl D. Langefeld, Susan D. Thompson, Wendy Thomson, John Bowes

Summary: In a large-scale JIA GWAS, five novel risk loci were identified, and the potential function of JIA association signals was described. This information will be informative for future experimental works and therapeutic strategies.

ANNALS OF THE RHEUMATIC DISEASES (2021)

Add to Collection

Article Multidisciplinary Sciences

Multi-context genetic modeling of transcriptional regulation resolves novel disease loci

Mike Thompson, Mary Grace Gordon, Andrew Lu, Anchit Tandon, Eran Halperin, Alexander Gusev, Chun Jimmie Ye, Brunilda Balliu, Noah Zaitlen

Summary: This study presents a method for transcriptome-wide association studies (TWAS) that considers the context-specific and context-shared effects of genetic variants. The authors demonstrate that their method improves the power of TWAS and identifies more genetically predicted genes associated with complex traits. The study highlights the importance of accounting for context-specific effects when analyzing transcriptome data.

NATURE COMMUNICATIONS (2022)

Add to Collection

Review Oncology

Is HLA type a possible cancer risk modifier in Lynch syndrome?

Aysel Ahadova, Johannes Witt, Saskia Haupt, Richard Gallon, Robert Hueneburg, Jacob Nattermann, Sanne Ten Broeke, Lena Bohaumilitzky, Alejandro Hernandez-Sanchez, Mauro Santibanez-Koref, Michael S. Jackson, Maarit Ahtiainen, Kirsi Pylvanainen, Katarina Andini, Vince Kornel Grolmusz, Gabriela Moeslein, Mev Dominguez-Valentin, Pal Moller, Daniel Fuerst, Rolf Sijmons, Gillian M. Borthwick, John Burn, Jukka-Pekka Mecklin, Vincent Heuveline, Magnus von Knebel Doeberitz, Toni Seppala, Matthias Kloor

Summary: Lynch syndrome is a common inherited cancer syndrome with a high risk of developing various malignancies. The HLA genotype of LS carriers plays an important role in the presentation of highly immunogenic antigens to the immune system and may influence cancer progression.

INTERNATIONAL JOURNAL OF CANCER (2023)

Add to Collection

Article Urology & Nephrology

Uncovering Modifier Genes of X-Linked Alport Syndrome Using a Novel Multiparent Mouse Model

Yuka Takemon, Valerie Wright, Bernard Davenport, Daniel M. Gatti, Susan M. Sheehan, Kelsey Letson, Holly S. Savage, Rachel Lennon, Ron Korstanje

Summary: This study identified modifier genes for X-linked Alport Syndrome using a novel genetic approach in mice. The candidate modifier gene Fmn1 was validated, showing its potential role in reducing albuminuria and podocyte protrusions. This approach can be applied to identify modifier genes for other forms of kidney disease, providing new therapeutic targets.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2021)

Add to Collection

Article Medicine, Research & Experimental

Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy

Hande Aypek, Christoph Krisp, Shun Lu, Shuya Liu, Dominik Kylies, Oliver Kretz, Guochao Wu, Manuela Moritz, Kerstin Amann, Kerstin Benz, Ping Tong, Zheng-mao Hu, Sulaiman M. Alsulaiman, Arif O. Khan, Maik Grohmann, Timo Wagner, Janina Mueller-Deile, Hartmut Schlueter, Victor G. Puelles, Carsten Bergmann, Tobias B. Huber, Florian Grahammer

Summary: Impairment of the glomerular filtration barrier (GFB) can lead to glomerular diseases, and P3H2 protein may act as a regulator of GFB and play an important role in its function.

JOURNAL OF CLINICAL INVESTIGATION (2022)

Add to Collection

Article Multidisciplinary Sciences

A cross-disorder study to identify causal relationships, shared genetic variants, and genes across 21 digestive disorders

Yue Jiang, Yihong Zhang, Can Ju, Ruyang Zhang, Hui Li, Feng Chen, Yefei Zhu, Sipeng Shen, Yongyue Wei

Summary: This study analyzed data from the UK Biobank to investigate the genetic correlations and causal relationships between 21 digestive disorders, as well as the common genetic factors and potential biological pathways driving these relationships. The findings confirmed extensive genetic correlations and causal relationships between digestive disorders, providing important insights into the genetic etiology, causality, disease prevention, and clinical treatment of these diseases.

ISCIENCE (2023)

Add to Collection

Review Oncology

Modifier genes and Lynch syndrome: some considerations

Rodney J. Scott

Summary: Lynch Syndrome is a highly variable disease with patients presenting different manifestations, from early-onset malignancy to no development of malignancy despite having a genetic predisposition. Colorectal cancer is the most common malignancy associated with LS, involving both genetic and environmental factors. Environmental insults, such as smoking and excessive alcohol consumption, are known to increase cancer risk. However, in individuals with inherited predisposition, the interaction between environmental insults and genetic factors is complex and requires careful consideration.

HEREDITARY CANCER IN CLINICAL PRACTICE (2022)

Add to Collection

Review Genetics & Heredity

Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes

Jean-Louis Gueant, Youssef Siblini, Celine Chery, Guillaume Schmitt, Rosa-Maria Gueant-Rodriguez, David Coelho, David Watkins, David S. Rosenblatt, Abderrahim Oussalah

Summary: This review focuses on the epigenetics of two inherited metabolic diseases, epi-cblC and alpha-thalassemia type alpha-ZF. It reveals that aberrant antisense transcription of flanking genes plays a crucial role in the generation of epimutations, leading to the development of these diseases. These findings highlight the importance of epigenetics in understanding the underlying mechanisms of genetic diseases.

HUMAN GENETICS (2022)

Add to Collection

Article Biochemistry & Molecular Biology

Integrating convolution and self-attention improves language model of human genome for interpreting non-coding regions at base-resolution

Meng Yang, Lichao Huang, Haiping Huang, Hui Tang, Nan Zhang, Huanming Yang, Jihong Wu, Feng Mu

Summary: LOGO is a self-attention based pre-trained language model that learns bi-directional representations of the unlabelled human reference genome. It achieves good performance in interpreting non-coding regions and shows advantages in tasks such as promoter identification and enhancer-promoter interaction prediction.

NUCLEIC ACIDS RESEARCH (2022)

Add to Collection

Review Genetics & Heredity

Autophagy genes in biology and disease

Hayashi Yamamoto, Sidi Zhang, Noboru Mizushima

Summary: Macroautophagy and microautophagy are highly conserved cellular processes in eukaryotes that involve the degradation of cellular material in lysosomes. These processes are regulated by autophagy-related proteins and other molecules, with some shared components between the pathways. Recent advancements in technology have allowed for a better understanding of the functions of individual autophagy gene products and their implications in human disorders. Additionally, genome data has shed light on the evolution of autophagy genes and their origins in prokaryotes.

NATURE REVIEWS GENETICS (2023)

Add to Collection

Article Neurosciences

Expanding causal genes for Parkinson's disease via multi-omics analysis

Xiao-Jing Gu, Wei-Ming Su, Meng Dou, Zheng Jiang, Qing-Qing Duan, Kang-Fu Yin, Bei Cao, Yi Wang, Guo-Bo Li, Yong-Ping Chen

Summary: This study identified several potential causal genes and therapeutic targets for Parkinson's disease (PD) through comprehensive analysis of multiple datasets. The findings enhance our understanding of the genetic basis of PD and provide prioritized targets for future therapeutic interventions.

NPJ PARKINSONS DISEASE (2023)

Add to Collection

Article Plant Sciences

Identification of Candidate Susceptibility Genes to Puccinia graminis f. sp. tritici in Wheat

Eva C. Henningsen, Vahid Omidvar, Rafael Della Coletta, Jean-Michel Michno, Erin Gilbert, Feng Li, Marisa E. Miller, Chad L. Myers, Sean P. Gordon, John P. Vogel, Brian J. Steffenson, Shahryar F. Kianian, Cory D. Hirsch, Melania Figueroa

Summary: Studies on gene expression changes in wheat infected by Pgt have identified processes related to susceptibility. By analyzing gene expression in wheat and Brachypodium, potential strategies to enhance resistance to Pgt have been proposed.

FRONTIERS IN PLANT SCIENCE (2021)

Add to Collection

Article Multidisciplinary Sciences

Lupus enhancer risk variant causes dysregulation of IRF8 through cooperative lncRNA and DNA methylation machinery

Tian Zhou, Xinyi Zhu, Zhizhong Ye, Yong-Fei Wang, Chao Yao, Ning Xu, Mi Zhou, Jianyang Ma, Yuting Qin, Yiwei Shen, Yuanjia Tang, Zhihua Yin, Hong Xu, Yutong Zhang, Xiaoli Zang, Huihua Ding, Wanling Yang, Ya Guo, John B. Harley, Bahram Namjou, Kenneth M. Kaufman, Leah C. Kottyan, Matthew T. Weirauch, Guojun Hou, Nan Shen

Summary: This study focuses on the functional effects of genetic loci associated with autoimmune disease, specifically investigating the dysregulation of IRF8 expression by lupus risk variants. By combining genetic, epigenomic, and CRISPR activation approaches, the authors identify a cell-type-specific enhancer for IRF8 and elucidate the molecular mechanisms underlying its dysregulation mediated by rs2280381. This integrative strategy provides insights into the regulation of critical genes in autoimmune diseases.

NATURE COMMUNICATIONS (2022)

Add to Collection

Article Cardiac & Cardiovascular Systems

Genetic Regulation of SMC Gene Expression and Splicing Predict Causal CAD Genes

Redouane Aherrahrou, Dillon Lue, R. Noah Perry, Yonathan Tamrat Aberra, Mohammad Daud Khan, Joon Yuhl Soh, Tiit Ord, Prosanta Singha, Qianyi Yang, Huda Gilani, Ernest Diez Benavente, Doris Wong, Jameson Hinkle, Lijiang Ma, Gloria M. Sheynkman, Hester M. den Ruijter, Clint L. Miller, Johan L. M. Bjoerkegren, Minna U. Kaikkonen, Mete Civelek

Summary: Coronary artery disease (CAD) is the leading cause of death globally. This study identified over 175 loci associated with CAD and found that they regulate gene expression in vascular smooth muscle cells (SMCs). The results also showed unique gene expression patterns in SMCs and sex-specific gene regulation. These findings provide insights into the molecular mechanisms underlying genetic susceptibility to CAD.

CIRCULATION RESEARCH (2023)

Add to Collection

Editorial Material Gastroenterology & Hepatology

IBD risk prediction using multi-ethnic polygenic risk scores

Ashwin N. Ananthakrishnan

Summary: The study highlights the use of a multi-ethnic polygenic risk score to determine the risk of developing inflammatory bowel disease in a large primary care population.

NATURE REVIEWS GASTROENTEROLOGY & HEPATOLOGY (2021)

Add to Collection

Article Psychiatry

Interaction Testing and Polygenic Risk Scoring to Estimate the Association of Common Genetic Variants With Treatment Resistance in Schizophrenia

Antonio F. Pardinas, Sophie E. Smart, Isabella R. Willcocks, Peter A. Holmans, Charlotte A. Dennison, Amy J. Lynham, Sophie E. Legge, Bernhard T. Baune, Tim B. Bigdeli, Murray J. Cairns, Aiden Corvin, Ayman H. Fanous, Josef Frank, Brian Kelly, Andrew McQuillin, Ingrid Melle, Preben B. Mortensen, Bryan J. Mowry, Carlos N. Pato, Sathish Periyasamy, Marcella Rietschel, Dan Rujescu, Carmen Simonsen, David St Clair, Paul Tooney, Jing Qin Wu, Ole A. Andreassen, Kaarina Kowalec, Patrick F. Sullivan, Robin M. Murray, Michael J. Owen, James H. MacCabe, Michael C. O'Donovan, James T. R. Walters

Summary: This study examined the genetic architecture of treatment-resistant schizophrenia (TRS) by reassessing genetic data from schizophrenia studies and validating it in carefully ascertained clinical samples. The results showed that TRS is a polygenic trait with detectable heritability, and it is genetically correlated with traits related to intelligence and cognition. The study also found associations between TRS and a history of taking clozapine.

JAMA PSYCHIATRY (2022)

Add to Collection

Article Genetics & Heredity

Capturing SNP Association across the NK Receptor and HLA Gene Regions in Multiple Sclerosis by Targeted Penalised Regression Models

Sean M. Burnard, Rodney A. Lea, Miles Benton, David Eccles, Daniel W. Kennedy, Jeannette Lechner-Scott, Rodney J. Scott

Summary: This study re-analyzed existing datasets using advanced statistical methods and identified new association signals for Multiple Sclerosis (MS) predisposition. The study also found that gene variants involved in oxidative stress were associated with MS.

GENES (2022)

Add to Collection

Article Oncology

Integration of tumour sequencing and case-control data to assess pathogenicity of RAD51C missense variants in familial breast cancer

Belle W. X. Lim, Na Li, Simone M. Rowley, Ella R. Thompson, Simone McInerny, Magnus Zethoven, Rodney J. Scott, Lisa Devereux, Erica K. Sloan, Paul A. James, Ian G. Campbell

Summary: The study reveals that rare missense variants in the RAD51C gene are associated with increased familial breast cancer risk and are correlated with specific breast cancer subtypes and mutational characteristics.

NPJ BREAST CANCER (2022)

Add to Collection

Article Genetics & Heredity

Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing

Na Li, Magnus Zethoven, Simone McInerny, Eliza Healey, Dilanka DeSilva, Lisa Devereux, Rodney J. Scott, Paul A. James, Ian G. Campbell

Summary: PALB2 is the most important contributor to familial breast cancer after BRCA1 and BRCA2. This study shows that a clinically important proportion of PALB2 pathogenic mutations in Australian patients with familial breast cancer are large genomic rearrangements (LGRs).

JOURNAL OF MEDICAL GENETICS (2023)

Add to Collection

Article Multidisciplinary Sciences

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

Vassily Trubetskoy, Antonio F. Pardinas, Ting Qi, Georgia Panagiotaropoulou, Swapnil Awasthi, Tim B. Bigdeli, Julien Bryois, Chia-Yen Chen, Charlotte A. Dennison, Lynsey S. Hall, Max Lam, Kyoko Watanabe, Oleksandr Frei, Tian Ge, Janet C. Harwood, Frank Koopmans, Sigurdur Magnusson, Alexander L. Richards, Julia Sidorenko, Yang Wu, Jian Zeng, Jakob Grove, Minsoo Kim, Zhiqiang Li, Georgios Voloudakis, Wen Zhang, Mark Adams, Ingrid Agartz, Elizabeth G. Atkinson, Esben Agerbo, Mariam Al Eissa, Margot Albus, Madeline Alexander, Behrooz Z. Alizadeh, Koksal Alptekin, Thomas D. Als, Farooq Amin, Volker Arolt, Manuel Arrojo, Lavinia Athanasiu, Maria Helena Azevedo, Silviu A. Bacanu, Nicholas J. Bass, Martin Begemann, Richard A. Belliveau, Judit Bene, Beben Benyamin, Sarah E. Bergen, Giuseppe Blasi, Julio Bobes, Stefano Bonassi, Alice Braun, Rodrigo Affonseca Bressan, Evelyn J. Bromet, Richard Bruggeman, Peter F. Buckley, Randy L. Buckner, Jonas Bybjerg-Grauholm, Wiepke Cahn, Murray J. Cairns, Monica E. Calkins, Vaughan J. Carr, David Castle, Stanley Catts, Kimberley D. Chambert, Raymond C. K. Chan, Boris Chaumette, Wei Cheng, Eric F. C. Cheung, Siow Ann Chong, David Cohen, Angele Consoli, Quirino Cordeiro, Javier Costas, Charles Curtis, Michael Davidson, Kenneth L. Davis, Lieuwe de Haan, Franziska Degenhardt, Lynn E. DeLisi, Ditte Demontis, Faith Dickerson, Dimitris Dikeos, Timothy Dinan, Srdjan Djurovic, Jubao Duan, Giuseppe Ducci, Frank Dudbridge, Johan G. Eriksson, Lourdes Fananas, Stephen Faraone, Alessia Fiorentino, Andreas Forstner, Josef Frank, Nelson B. Freimer, Menachem Fromer, Alessandra Frustaci, Ary Gadelha, Giulio Genovese, Elliot S. Gershon, Marianna Giannitelli, Ina Giegling, Paola Giusti-Rodriguez, Stephanie Godard, Jacqueline Goldstein, Javier Gonzalez Penas, Ana Gonzalez-Pinto, Srihari Gopal, Jacob Gratten, Michael F. Green, Tiffany A. Greenwood, Olivier Guillin, Sinan Guloksuz, Raquel E. Gur, Ruben C. Gur, Blanca Gutierrez, Eric Hahn, Hakon Hakonarson, Vahram Haroutunian, Annette M. Hartmann, Carol Harvey, Caroline Hayward, Frans A. Henskens, Stefan Herms, Per Hoffmann, Daniel P. Howrigan, Masashi Ikeda, Conrad Iyegbe, Inge Joa, Antonio Julia, Anna K. Kahler, Tony Kam-Thong, Yoichiro Kamatani, Sena Karachanak-Yankova, Oussama Kebir, Matthew C. Keller, Brian J. Kelly, Andrey Khrunin, Sung-Wan Kim, Janis Klovins, Nikolay Kondratiev, Bettina Konte, Julia Kraft, Michiaki Kubo, Vaidutis Kucinskas, Zita Ausrele Kucinskiene, Agung Kusumawardhani, Hana Kuzelov A-Ptackova, Stefano Landi, Laura C. Lazzeroni, Phil H. Lee, Sophie E. Legge, Douglas S. Lehrer, Rebecca Lencer, Bernard Lerer, Miaoxin Li, Jeffrey Lieberman, Gregory A. Light, Svetlana Limborska, Chih-Min Liu, Jouko Lonnqvist, Carmel M. Loughland, Jan Lubinski, Jurjen J. Luykx, Amy Lynham, Milan Macek, Andrew Mackinnon, Patrik K. E. Magnusson, Brion S. Maher, Wolfgang Maier, Dolores Malaspina, Jacques Mallet, Stephen R. Marder, Sara Marsal, Alicia R. Martin, Lourdes Martorell, Manuel Mattheisen, Robert W. McCarley, Colm McDonald, John J. McGrath, Helena Medeiros, Sandra Meier, Bela Melegh, Ingrid Melle, Raquelle Mesholam-Gately, Andres Metspalu, Patricia T. Michie, Lili Milani, Vihra Milanova, Marina Mitjans, Espen Molden, Esther Molina, Maria Dolores Molto, Valeria Mondelli, Carmen Moreno, Christopher P. Morley, Gerard Muntane, Kieran C. Murphy, Inez Myin-Germeys, Igor Nenadic, Gerald Nestadt, Liene Nikitina-Zake, Cristiano Noto, Keith H. Nuechterlein, Niamh Louise O'Brien, F. Anthony O'Neill, Sang-Yun Oh, Ann Olincy, Vanessa Kiyomi Ota, Christos Pantelis, George N. Papadimitriou, Mara Parellada, Tiina Paunio, Renata Pellegrino, Sathish Periyasamy, Diana O. Perkins, Bruno Pfuhlmann, Olli Pietilainen, Jonathan Pimm, David Porteous, John Powell, Diego Quattrone, Digby Quested, Allen D. Radant, Antonio Rampino, Mark H. Rapaport, Anna Rautanen, Abraham Reichenberg, Cheryl Roe, Joshua L. Roffman, Julian Roth, Matthias Rothermundt, Bart P. F. Rutten, Safaa Saker-Delye, Veikko Salomaa, Julio Sanjuan, Marcos Leite Santoro, Adam Savitz, Ulrich Schall, Rodney J. Scott, Larry J. Seidman, Sally Isabel Sharp, Jianxin Shi, Larry J. Siever, Engilbert Sigurdsson, Kang Sim, Nora Skarabis, Petr Slominsky, Hon-Cheong So, Janet L. Sobell, Erik Soderman, Helen J. Stain, Nils Eiel Steen, Agnes A. Steixner-Kumar, Elisabeth Stogmann, William S. Stone, Richard E. Straub, Fabian Streit, Eric Strengman, T. Scott Stroup, Mythily Subramaniam, Catherine A. Sugar, Jaana Suvisaari, Dragan M. Svrakic, Neal R. Swerdlow, Jin P. Szatkiewicz, Thi Minh Tam Ta, Atsushi Takahashi, Chikashi Terao, Florence Thibaut, Draga Toncheva, Paul A. Tooney, Silvia Torretta, Sarah Tosato, Gian Battista Tura, Bruce Turetsky, Alp Ucok, Arne Vaaler, Therese van Amelsvoort, Ruud van Winkel, Juha Veijola, John Waddington, Henrik Walter, Anna Waterreus, Bradley T. Webb, Mark Weiser, Nigel M. Williams, Stephanie H. Witt, Brandon K. Wormley, Jing Qin Wu, Zhida Xu, Robert Yolken, Clement C. Zai, Wei Zhou, Feng Zhu, Fritz Zimprich, Muhammad Ayub, Christian Benner, Alessandro Bertolino, Donald W. Black, Nicholas J. Bray, Gerome Breen, Nancy G. Buccola, William F. Byerley, Wei J. Chen, C. Robert Cloninger, Benedicto Crespo-Facorro, Gary Donohoe, Robert Freedman, Cherrie Galletly, Michael J. Gandal, Massimo Gennarelli, David M. Hougaard, Hai-Gwo Hwu, Assen Jablensky, Steven A. McCarroll, Jennifer L. Moran, Ole Mors, Preben B. Mortensen, Bertram Muller-Myhsok, Amanda L. Neil, Merete Nordentoft, Michele T. Pato, Tracey L. Petryshen, Matti Pirinen, Ann E. Pulver, Thomas G. Schulze, Jeremy M. Silverman, Jordan W. Smoller, Eli A. Stahl, Debby W. Tsuang, Elisabet Vilella, Shi-Heng Wang, Shuhua Xu, Rolf Adolfsson, Celso Arango, Bernhard T. Baune, Sintia Iole Belangero, Anders D. Borglum, David Braff, Elvira Bramon, Joseph D. Buxbaum, Dominique Campion, Jorge A. Cervilla, Sven Cichon, David A. Collier, Aiden Corvin, David Curtis, Marta Di Forti, Enrico Domenici, Hannelore Ehrenreich, Valentina Escott-Price, Tonu Esko, Ayman H. Fanous, Anna Gareeva, Micha Gawlik, Pablo Gejman, Michael Gill, Stephen J. Glatt, Vera Golimbet, Kyung Sue Hong, Christina M. Hultman, Steven E. Hyman, Nakao Iwata, Erik G. Jonsson, Rene S. Kahn, James L. Kennedy, Elza Khusnutdinova, George Kirov, James A. Knowles, Marie-Odile Krebs, Claudine Laurent-Levinson, Jimmy Lee, Todd Lencz, Douglas F. Levinson, Qingqin S. Li, Jianjun Liu, Anil K. Malhotra, Dheeraj Malhotra, Andrew McIntosh, Andrew McQuillin, Paulo R. Menezes, Vera A. Morgan, Derek W. Morris, Bryan J. Mowry, Robin M. Murray, Vishwajit Nimgaonkar, Markus M. Nothen, Roel A. Ophoff, Sara A. Paciga, Aarno Palotie, Carlos N. Pato, Shengying Qin, Marcella Rietschel, Brien P. Riley, Margarita Rivera, Dan Rujescu, Meram C. Saka, Alan R. Sanders, Sibylle G. Schwab, Alessandro Serretti, Pak C. Sham, Yongyong Shi, David St Clair, Hreinn Stefansson, Kari Stefansson, Ming T. Tsuang, Jim van Os, Marquis P. Vawter, Daniel R. Weinberger, Thomas Werge, Dieter B. Wildenauer, Xin Yu, Weihua Yue, Peter A. Holmans, Andrew J. Pocklington, Panos Roussos, Evangelos Vassos, Matthijs Verhage, Peter M. Visscher, Jian Yang, Danielle Posthuma, Ole A. Andreassen, Kenneth S. Kendler, Michael J. Owen, Naomi R. Wray, Mark J. Daly, Hailiang Huang, Benjamin M. Neale, Patrick F. Sullivan, Stephan Ripke, James T. R. Walters, Michael C. O'Donovan

Summary: In this study, a two-stage genome-wide association study was conducted to identify common variants associated with schizophrenia. The results revealed 287 distinct genomic loci and 120 genes likely to be involved in the development of schizophrenia. This research provides valuable insights into the pathophysiology of schizophrenia and offers a resource for further mechanistic studies.

NATURE (2022)

Add to Collection

Article Genetics & Heredity

Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals

Aysu Okbay, Yeda Wu, Nancy Wang, Hariharan Jayashankar, Michael Bennett, Seyed Moeen Nehzati, Julia Sidorenko, Hyeokmoon Kweon, Grant Goldman, Tamara Gjorgjieva, Yunxuan Jiang, Barry Hicks, Chao Tian, David A. Hinds, Rafael Ahlskog, Patrik K. E. Magnusson, Sven Oskarsson, Caroline Hayward, Archie Campbell, David J. Porteous, Jeremy Freese, Pamela Herd, Chelsea Watson, Jonathan Jala, Dalton Conley, Philipp D. Koellinger, Magnus Johannesson, David Laibson, Michelle N. Meyer, James J. Lee, Augustine Kong, Loic Yengo, David Cesarini, Patrick Turley, Peter M. Visscher, Jonathan P. Beauchamp, Daniel J. Benjamin, Alexander Young

Summary: In this study, a genome-wide association study (GWAS) was conducted to investigate the genetic factors associated with educational attainment (EA). The results identified numerous single-nucleotide polymorphisms (SNPs) that are significantly correlated with EA. Furthermore, a polygenic predictor (PGI) was found to explain a substantial portion of the variation in EA and contribute to disease risk prediction. Intriguingly, the correlation between mate-pair PGIs suggests additional assortment mechanisms. However, no significant SNPs were identified in separate analyses of dominance deviations and the X-chromosome.

NATURE GENETICS (2022)

Add to Collection

Article Oncology

Verification and Validation of a Four-Gene Panel as a Prognostic Indicator in Triple Negative Breast Cancer

Mamta Pariyar, Rick F. Thorne, Rodney J. Scott, Kelly A. Avery-Kiejda

Summary: Triple negative breast cancer (TNBC) is an aggressive subtype with no established biomarkers for prognosis or targeted therapies. This study identified four genes specific to TNBC and associated with lymph node metastasis. Low expression of IL6ST was related to grade 3 disease and hormone receptor negativity, low expression of ANKRD30A was associated with tumor size, and high expression of ANP32E was associated with grade and lymph node involvement. These genes may have utility in prognosticating TNBC.

FRONTIERS IN ONCOLOGY (2022)

Add to Collection

Article Genetics & Heredity

A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

Shweta Ramdas, Jonathan Judd, Sarah E. Graham, Stavroula Kanoni, Yuxuan Wang, Ida Surakka, Brandon Wenz, Shoa L. Clarke, Alessandra Chesi, Andrew Wells, Konain Fatima Bhatti, Sailaja Vedantam, Thomas W. Winkler, Adam E. Locke, Eirini Marouli, Greg J. M. Zajac, Kuan-Han H. Wu, Ioanna Ntalla, Qin Hui, Derek Klarin, Austin T. Hilliard, Zeyuan Wang, Chao Xue, Gudmar Thorleifsson, Anna Helgadottir, Daniel F. Gudbjartsson, Hilma Holm, Isleifur Olafsson, Mi Yeong Hwang, Sohee Han, Masato Akiyama, Saori Sakaue, Chikashi Terao, Masahiro Kanai, Wei Zhou, Ben M. Brumpton, Humaira Rasheed, Aki S. Havulinna, Yogasudha Veturi, Jennifer Allen Pacheco, Elisabeth A. Rosenthal, Todd Lingren, QiPing Feng, Iftikhar J. Kullo, Akira Narita, Jun Takayama, Hilary C. Martin, Karen A. Hunt, Bhavi Trivedi, Jeffrey Haessler, Franco Giulianini, Yuki Bradford, Jason E. Miller, Archie Campbell, Kuang Lin, Iona Y. Millwood, Asif Rasheed, George Hindy, Jessica D. Faul, Wei Zhao, David R. Weir, Constance Turman, Hongyan Huang, Mariaelisa Graff, Ananyo Choudhury, Dhriti Sengupta, Anubha Mahajan, Michael R. Brown, Weihua Zhang, Ketian Yu, Ellen M. Schmidt, Anita Pandit, Stefan Gustafsson, Xianyong Yin, Jian'an Luan, Jing-Hua Zhao, Fumihiko Matsuda, Hye-Mi Jang, Kyungheon Yoon, Carolina Medina-Gomez, Achilleas Pitsillides, Jouke Jan Hottenga, Andrew R. Wood, Yingji Ji, Zishan Gao, Simon Haworth, Ruth E. Mitchell, Jin Fang Chai, Mette Aadahl, Anne A. Bjerregaard, Jie Yao, Ani Manichaikul, Wen-Jane Lee, Chao Agnes Hsiung, Helen R. Warren, Julia Ramirez, Jette Bork-Jensen, Line L. Karhus, Anuj Goel, Maria Sabater-Lleal, Raymond Noordam, Pala Mauro, Floris Matteo, Aaron F. McDaid, Pedro Marques-Vidal, Matthias Wielscher, Stella Trompet, Naveed Sattar, Line T. Mollehave, Matthias Munz, Lingyao Zeng, Jianfeng Huang, Bin Yang, Alaitz Poveda, Azra Kurbasic, Sebastian Schonherr, Lukas Forer, Markus Scholz, Tessel E. Galesloot, Jonathan P. Bradfield, Sanni E. Ruotsalainen, E. Warwick Daw, Joseph M. Zmuda, Jonathan S. Mitchell, Christian Fuchsberger, Henry Christensen, Jennifer A. Brody, Phuong Le, Mary F. Feitosa, Mary K. Wojczynski, Daiane Hemerich, Michael Preuss, Massimo Mangino, Paraskevi Christofidou, Niek Verweij, Jan W. Benjamins, Jorgen Engmann, Tsao L. Noah, Anurag Verma, Roderick C. Slieker, Ken Sin Lo, Nuno R. Zilhao, Marcus E. Kleber, Graciela E. Delgado, Shaofeng Huo, Daisuke D. Ikeda, Hiroyuki Iha, Jian Yang, Jun Liu, Ayse Demirkan, Hampton L. Leonard, Jonathan Marten, Carina Emmel, Borge Schmidt, Laura J. Smyth, Marisa Canadas-Garre, Chaolong Wang, Masahiro Nakatochi, Andrew Wong, Nina Hutri-Kahonen, Xueling Sim, Rui Xia, Alicia Huerta-Chagoya, Juan Carlos Fernandez-Lopez, Valeriya Lyssenko, Suraj S. Nongmaithem, Alagu Sankareswaran, Marguerite R. Irvin, Christopher Oldmeadow, Han-Na Kim, Seungho Ryu, Paul R. H. J. Timmers, Liubov Arbeeva, Rajkumar Dorajoo, Leslie A. Lange, Gauri Prasad, Laura Lores-Motta, Marc Pauper, Jirong Long, Xiaohui Li, Elizabeth Theusch, Fumihiko Takeuchi, Cassandra N. Spracklen, Anu Loukola, Sailalitha Bollepalli, Sophie C. Warner, Ya Xing Wang, Wen B. Wei, Teresa Nutile, Daniela Ruggiero, Yun Ju Sung, Shufeng Chen, Fangchao Liu, Jingyun Yang, Katherine A. Kentistou, Bernhard Banas, Anna Morgan, Karina Meidtner, Lawrence F. Bielak, Jennifer A. Smith, Prashantha Hebbar, Aliki-Eleni Farmaki, Edith Hofer, Maoxuan Lin, Maria Pina Concas, Simona Vaccargiu, Peter J. van der Most, Niina Pitkanen, Brian E. Cade, Sander W. van der Laan, Kumaraswamy Naidu Chitrala, Stefan Weiss, Amy R. Bentley, Ayo P. Doumatey, Adebowale A. Adeyemo, Jong Young Lee, Eva R. B. Petersen, Aneta A. Nielsen, Hyeok Sun Choi, Maria Nethander, Sandra Freitag-Wolf, Lorraine Southam, Nigel W. Rayner, Carol A. Wang, Shih-Yi Lin, Jun-Sing Wang, Christian Couture, Leo-Pekka Lyytikainen, Kjell Nikus, Gabriel Cuellar-Partida, Henrik Vestergaard, Bertha Hidalgo, Olga Giannakopoulou, Qiuyin Cai, Morgan O. Obura, Jessica van Setten, Karen Y. He, Hua Tang, Natalie Terzikhan, Jae Hun Shin, Rebecca D. Jackson, Alexander P. Reiner, Lisa Warsinger Martin, Zhengming Chen, Liming Li, Takahisa Kawaguchi, Joachim Thiery, Joshua C. Bis, Lenore J. Launer, Huaixing Li, Mike A. Nalls, Olli T. Raitakari, Sahoko Ichihara, Sarah H. Wild, Christopher P. Nelson, Harry Campbell, Susanne Jager, Toru Nabika, Fahd Al-Mulla, Harri Niinikoski, Peter S. Braund, Ivana Kolcic, Peter Kovacs, Tota Giardoglou, Tomohiro Katsuya, Dominique de Kleijn, Gert J. de Borst, Eung Kweon Kim, Hieab H. H. Adams, M. Arfan Ikram, Xiaofeng Zhu, Folkert W. Asselbergs, Adriaan O. Kraaijeveld, Joline W. J. Beulens, Xiao-Ou Shu, Loukianos S. Rallidis, Oluf Pedersen, Torben Hansen, Paul Mitchell, Alex W. Hewitt, Mika Kahonen, Louis Perusse, Claude Bouchard, Anke Tonjes, Yii-Der Ida Chen, Craig E. Pennell, Trevor A. Mori, Wolfgang Lieb, Andre Franke, Claes Ohlsson, Dan Mellstrom, Yoon Shin Cho, Hyejin Lee, Jian-Min Yuan, Woon-Puay Koh, Sang Youl Rhee, Jeong-Taek Woo, Iris M. Heid, Klaus J. Stark, Martina E. Zimmermann, Henry Volzke, Georg Homuth, Michele K. Evans, Alan B. Zonderman, Ozren Polasek, Gerard Pasterkamp, Imo E. Hoefer, Susan Redline, Katja Pahkala, Albertine J. Oldehinkel, Harold Snieder, Ginevra Biino, Reinhold Schmidt, Helena Schmidt, Stefania Bandinelli, George Dedoussis, Thangavel Alphonse Thanaraj, Patricia A. Peyser, Norihiro Kato, Matthias B. Schulze, Giorgia Girotto, Carsten A. Boger, Bettina Jung, Peter K. Joshi, David A. Bennett, Philip L. De Jager, Xiangfeng Lu, Vasiliki Mamakou, Morris Brown, Mark J. Caulfield, Patricia B. Munroe, Xiuqing Guo, Marina Ciullo, Jost B. Jonas, Nilesh J. Samani, Jaakko Kaprio, Paivi Pajukanta, Teresa Tusie-Luna, Carlos A. Aguilar-Salinas, Linda S. Adair, Sonny Augustin Bechayda, H. Janaka de Silva, Ananda R. Wickremasinghe, Ronald M. Krauss, Jer-Yuarn Wu, Wei Zheng, Anneke den Hollander, Dwaipayan Bharadwaj, Adolfo Correa, James G. Wilson, Lars Lind, Chew-Kiat Heng, Amanda E. Nelson, Yvonne M. Golightly, James F. Wilson, Brenda Penninx, Hyung-Lae Kim, John Attia, Rodney J. Scott, D. C. Rao, Donna K. Arnett, Mark Walker, Laura J. Scott, Heikki A. Koistinen, Giriraj R. Chandak, Josep M. Mercader, Clicerio Gonzalez Villalpando, Lorena Orozco, Myriam Fornage, E. Shyong Tai, Rob M. van Dam, Terho Lehtimaki, Nish Chaturvedi, Mitsuhiro Yokota, Jianjun Liu, Dermot F. Reilly, Amy Jayne McKnight, Frank Kee, Karl-Heinz Jockel, Mark McCarthy, Colin N. A. Palmer, Veronique Vitart, Caroline Hayward, Eleanor Simonsick, Cornelia M. van Duijn, Zi-Bing Jin, Fan Lu, Haretsugu Hishigaki, Xu Lin, Winfried Marz, Vilmundur Gudnason, Jean-Claude Tardif, Guillaume Lettre, Leen M. T. Hart, Petra J. M. Elders, Daniel J. Rader, Scott M. Damrauer, Meena Kumari, Mika Kivimaki, Pim van der Harst, Tim D. Spector, Ruth J. F. Loos, Michael A. Province, Esteban J. Parra, Miguel Cruz, Bruce M. Psaty, Ivan Brandslund, Peter P. Pramstaller, Charles N. Rotimi, Kaare Christensen, Samuli Ripatti, Elisabeth Widen, Hakon Hakonarson, Struan F. A. Grant, Lambertus Kiemeney, Jacqueline de Graaf, Markus Loeffler, Florian Kronenberg, Dongfeng Gu, Jeanette Erdmann, Heribert Schunkert, Paul W. Franks, Allan Linneberg, J. Wouter Jukema, Amit Khera, Minna Mannikko, Marjo-Riitta Jarvelin, Zoltan Kutalik, Cucca Francesco, Dennis O. Mook-Kanamori, Ko Willems van Dijk, Hugh Watkins, David P. Strachan, Niels Grarup, Peter Sever, Neil Poulter, Wayne Huey-Herng Sheu, Jerome Rotter, Thomas M. Dantoft, Fredrik Karpe, Matt J. Neville, Nicholas J. Timpson, Ching-Yu Cheng, Tien-Yin Wong, Chiea Chuen Khor, Hengtong Li, Charumathi Sabanayagam, Annette Peters, Christian Gieger, Andrew T. Hattersley, Nancy L. Pedersen, Patrik K. E. Magnusson, Dorret Boomsma, Eco J. C. de Geus, L. Adrienne Cupples, Joyce B. J. van Meurs, Arfan Ikram, Mohsen Ghanbari, Penny Gordon-Larsen, Wei Huang, Young Jin Kim, Yasuharu Tabara, Nicholas J. Wareham, Claudia Langenberg, Eleftheria Zeggini, Jaakko Tuomilehto, Johanna Kuusisto, Markku Laakso, Erik Ingelsson, Goncalo Abecasis, John C. Chambers, Jaspal S. Kooner, Paul S. de Vries, Alanna C. Morrison, Scott Hazelhurst, Michele Ramsay, Kari E. North, Martha Daviglus, Peter Kraft, Nicholas G. Martin, John B. Whitfield, Shahid Abbas, Danish Saleheen, Robin G. Walters, Michael Holmes, Corri Black, Blair H. Smith, Aris Baras, Anne E. Justice, Julie E. Buring, Paul M. Ridker, Daniel Chasman, Charles Kooperberg, Gen Tamiya, Masayuki Yamamoto, David A. van Heel, Richard C. Trembath, Wei-Qi Wei, Gail P. Jarvik, Bahram Namjou, M. Geoffrey Hayes, Marylyn D. Ritchie, Pekka Jousilahti, Veikko Salomaa, Kristian Hveem, Bjorn Olav Asvold, Michiaki Kubo, Yoichiro Kamatani, Yukinori Okada, Yoshinori Murakami, Bong-Jo Kim, Unnur Thorsteinsdottir, Kari Stefansson, Jifeng Zhang, Y. Eugene Chen, Yuk-Lam Ho, Julie A. Lynch, Philip S. Tsao, Kyong-Mi Chang, Kelly Cho, Christopher J. O'Donnell, John M. Gaziano, Peter Wilson, Karen L. Mohlke, Timothy M. Frayling, Joel N. Hirschhorn, Sekar Kathiresan, Michael Boehnke, Struan Grant, Pradeep Natarajan, Yan Sun, Andrew P. Morris, Panos Deloukas, Gina Peloso, Themistocles L. Assimes, Cristen J. Willer, Xiang Zhu, Christopher D. Brown

Summary: This study integrates large-scale GWAS data and functional genomic data to uncover genes and mechanisms involved in regulating blood lipids. Through enrichment analysis and identification of transcription factor binding sites, important genes and transcription factors related to lipid levels are discovered. Additionally, a framework is proposed to prioritize causal variants and genes at GWAS loci.

AMERICAN JOURNAL OF HUMAN GENETICS (2022)

Add to Collection

Article Geriatrics & Gerontology

High polygenic risk score for exceptional longevity is associated with a healthy metabolic profile

Mary Revelas, Anbupalam Thalamuthu, Anna Zettergren, Christopher Oldmeadow, Jenna Najar, Nazib M. Seidu, Nicola J. Armstrong, Carlos Riveros, John B. Kwok, Peter R. Schofield, Julian N. Trollor, Margda Waern, Margaret J. Wright, Henrik Zetterberg, David Ames, Kaj Belnnow, Henry Brodaty, Rodney J. Scott, Ingmar Skoog, John R. Attia, Perminder S. Sachdev, Karen A. Mather

Summary: This study found that individuals with a high polygenic risk for exceptional longevity have a lower prevalence of metabolic syndrome, suggesting that high-risk individuals have a healthy metabolic profile that promotes longevity.

GEROSCIENCE (2023)

Add to Collection

Article Oncology

Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants

Belle W. X. Lim, Na Li, Sakshi Mahale, Simone M. McInerny, Magnus Zethoven, Simone M. Rowley, Joanne Huynh, Theresa Wang, Jue Er Amanda Lee, Mia Friedman, Lisa Devereux, Rodney J. Scott, Erica K. Sloan, Paul A. James, Ian G. Campbell

Summary: This study found that BARD1 and RAD51D behave as classic BRCA-like predisposition genes with biallelic loss in breast cancer. In contrast to other breast cancer-related genes, CHEK2 gene lacks biallelic loss, but this does not definitively exclude its involvement in breast cancer predisposition.

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2023)

Add to Collection

Article Biochemistry & Molecular Biology

Brain ageing in schizophrenia: evidence from 26 international cohorts via the ENIGMA Schizophrenia consortium

Constantinos Constantinides, Laura K. M. Han, Clara Alloza, Linda Antonella Antonucci, Celso Arango, Rosa Ayesa-Arriola, Nerisa Banaj, Alessandro Bertolino, Stefan Borgwardt, Jason Bruggemann, Juan Bustillo, Oleg Bykhovski, Vince Calhoun, Vaughan Carr, Stanley Catts, Young-Chul Chung, Benedicto Crespo-Facorro, Covadonga M. Diaz-Caneja, Gary Donohoe, Stefan Du Plessis, Jesse Edmond, Stefan Ehrlich, Robin Emsley, Lisa T. Eyler, Paola Fuentes-Claramonte, Foivos Georgiadis, Melissa Green, Amalia Guerrero-Pedraza, Minji Ha, Tim Hahn, Frans A. Henskens, Laurena Holleran, Stephanie Homan, Philipp Homan, Neda Jahanshad, Joost Janssen, Ellen Ji, Stefan Kaiser, Vasily Kaleda, Minah Kim, Woo-Sung Kim, Matthias Kirschner, Peter Kochunov, Yoo Bin Kwak, Jun Soo Kwon, Irina Lebedeva, Jingyu Liu, Patricia Mitchie, Stijn Michielse, David Mothersill, Bryan Mowry, Victor Ortiz-Garcia de la Foz, Christos Pantelis, Giulio Pergola, Fabrizio Piras, Edith Pomarol-Clotet, Adrian Preda, Yann Quide, Paul E. Rasser, Kelly Rootes-Murdy, Raymond Salvador, Marina Sangiuliano, Salvador Sarro, Ulrich Schall, Andre Schmidt, Rodney J. Scott, Pierluigi Selvaggi, Kang Sim, Antonin Skoch, Gianfranco Spalletta, Filip Spaniel, Sophia Thomopoulos, David Tomecek, Alexander S. Tomyshev, Diana Tordesillas-Gutierrez, Therese van Amelsvoort, Javier Vazquez-Bourgon, Daniela Vecchio, Aristotle Voineskos, Cynthia S. Weickert, Thomas Weickert, Paul M. Thompson, Lianne Schmaal, Theo G. M. van Erp, Jessica Turner, James H. Cole, Danai Dima, Esther Walton

Summary: Schizophrenia patients show evidence of advanced brain ageing, which is not associated with clinical characteristics.

MOLECULAR PSYCHIATRY (2023)

Add to Collection

Article Clinical Neurology

Genetic Risk Score for Intracranial Aneurysms: Prediction of Subarachnoid Hemorrhage and Role in Clinical Heterogeneity

Mark K. Bakker, Jos P. Kanning, Gad Abraham, Amy E. Martinsen, Bendik S. Winsvold, John-Anker Zwart, Romain Bourcier, Tomonobu Sawada, Masaru Koido, Yoichiro Kamatani, Sandrine Morel, Philippe Amouyel, Stephanie Debette, Philippe Bijlenga, Takiy Berrandou, Santhi K. Ganesh, Nabila Bouatia-Naji, Gregory Jones, Matthew Bown, Gabriel J. E. HUNT All In Stroke, Jan H. CADISP Grp, Ynte M. Int Consortium Blood Pressure, Int Headache Genetics Consortium, ISGC, Intracranial Aneurysm Working Grp, Gabriel J. E. Rinkel, Jan Veldink, Ynte Ruigrok

Summary: Recently, common genetic risk factors for intracranial aneurysm (IA) and aneurysmal subarachnoid hemorrhage (ASAH) were found to have potential for genetic risk prediction. However, a genetic risk score incorporating these factors only showed limited predictive value for IA presence and ASAH incidence, suggesting that it may not be suitable for daily clinical use.

STROKE (2023)

Add to Collection

Article Biochemistry & Molecular Biology

DNA Methylation Signatures of Multiple Sclerosis Occur Independently of Known Genetic Risk and Are Primarily Attributed to B Cells and Monocytes

Alexandre Xavier, Vicki E. Maltby, Ewoud Ewing, Maria Pia Campagna, Sean M. Burnard, Jesper N. Tegner, Mark Slee, Helmut Butzkueven, Ingrid Kockum, Lara Kular, Vilija G. Jokubaitis, Trevor Kilpatrick, Lars Alfredsson, Maja Jagodic, Anne-Louise Ponsonby, Bruce V. Taylor, Rodney J. Scott, Rodney A. Lea, Jeannette Lechner-Scott

Summary: This study reveals that DNA methylation differences in multiple sclerosis (MS) occur independently of known genetic risk loci. It shows that these differences more effectively differentiate the disease compared to known genetic risk loci. The study also indicates that the methylation differences in MS predominantly occur in B cells and monocytes, involving cell-specific biological pathways.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2023)

Add to Collection

Article Oncology

Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

Pal Moller, Toni Seppala, James G. Dowty, Saskia Haupt, Mev Dominguez-Valentin, Lone Sunde, Inge Bernstein, Christoph Engel, Stefan Aretz, Maartje Nielsen, Gabriel Capella, Dafydd Gareth Evans, John Burn, Elke Holinski-Feder, Lucio Bertario, Bernardo Bonanni, Annika Lindblom, Zohar Levi, Finlay Macrae, Ingrid Winship, John-Paul Plazzer, Rolf Sijmons, Luigi Laghi, Adriana Della Valle, Karl Heinimann, Elizabeth Half, Francisco Lopez-Koestner, Karin Alvarez-Valenzuela, Rodney J. Scott, Lior Katz, Ido Laish, Elez Vainer, Carlos Alberto Vaccaro, Dirce Maria Carraro, Nathan Gluck, Naim Abu-Freha, Aine Stakelum, Rory Kennelly, Des Winter, Benedito Mauro Rossi, Marc Greenblatt, Mabel Bohorquez, Harsh Sheth, Maria Grazia Tibiletti, Leonardo S. Lino-Silva, Karoline Horisberger, Carmen Portenkirchner, Ivana Nascimento, Norma Teresa Rossi, Leandro Apolinario da Silva, Huw Thomas, Attila Zarand, Jukka-Pekka Mecklin, Kirsi Pylvanainen, Laura Renkonen-Sinisalo, Anna Lepisto, Paivi Peltomaki, Christina Therkildsen, Lars Joachim Lindberg, Ole Thorlacius-Ussing, Magnus von Knebel Doeberitz, Markus Loeffler, Nils Rahner, Verena Steinke-Lange, Wolff Schmiegel, Deepak Vangala, Claudia Perne, Robert Hueneburg, Aida Falcon de Vargas, Andrew Latchford, Anne-Marie Gerdes, Ann-Sofie Backman, Carmen Guillen-Ponce, Carrie Snyder, Charlotte K. Lautrup, David Amor, Edenir Palmero, Elena Stoffel, Floor Duijkers, Michael J. Hall, Heather Hampel, Heinric Williams, Henrik Okkels, Jan Lubinski, Jeanette Reece, Joanne Ngeow, Jose G. Guillem, Julie Arnold, Karin Wadt, Kevin Monahan, Leigha Senter, Lene J. Rasmussen, Liselotte P. van Hest, Luigi Ricciardiello, Maija R. J. Kohonen-Corish, Marjolijn J. L. Ligtenberg, Melissa Southey, Melyssa Aronson, Mohd N. Zahary, N. Jewel Samadder, Nicola Poplawski, Nicoline Hoogerbrugge, Patrick J. Morrison, Paul James, Grant Lee, Rakefet Chen-Shtoyerman, Ravindran Ankathil, Rish Pai, Robyn Ward, Susan Parry, Tadeusz Debniak, Thomas John, Thomas van Overeem Hansen, Trinidad Caldes, Tatsuro Yamaguchi, Veronica Barca-Tierno, Pilar Garre, Giulia Martina Cavestro, Juergen Weitz, Silke Redler, Reinhard Buettner, VincentZ Heuveline, John L. Hopper, Aung Ko Win, Noralane Lindor, Steven Gallinger, Loic Le Marchand, Polly A. Newcomb, Jane Figueiredo, Daniel D. Buchanan, Stephen N. Thibodeau, Sanne W. ten Broeke, Eivind Hovig, Sigve Nakken, Marta Pineda, Nuria Duenas, Joan Brunet, Kate Green, Fiona Lalloo, Katie Newton, Emma J. Crosbie, Miriam Mints, Douglas Tjandra, Florencia Neffa, Patricia Esperon, Revital Kariv, Guy Rosner, Walter Hernan Pavicic, Pablo Kalfayan, Giovana Tardin Torrezan, Thiago Bassaneze, Claudia Martin, Gabriela Moslein, Aysel Ahadova, Matthias Kloor, Julian R. Sampson, Mark A. Jenkins

Summary: This study compared the colorectal cancer incidence in carriers of pathogenic variants of the MMR genes in two cohorts. The PLSD cohort, with mandatory colonoscopy surveillance, had higher CRC incidences compared to the retrospective IMRC cohort. Surprisingly, the incidence was not reduced in path_MSH6 carriers. However, the incidence in path_PMS2 carriers was reduced, though not significantly.

HEREDITARY CANCER IN CLINICAL PRACTICE (2022)

Add to Collection

Review Oncology

Modifier genes and Lynch syndrome: some considerations

Rodney J. Scott

Summary: Lynch Syndrome is a highly variable disease with patients presenting different manifestations, from early-onset malignancy to no development of malignancy despite having a genetic predisposition. Colorectal cancer is the most common malignancy associated with LS, involving both genetic and environmental factors. Environmental insults, such as smoking and excessive alcohol consumption, are known to increase cancer risk. However, in individuals with inherited predisposition, the interaction between environmental insults and genetic factors is complex and requires careful consideration.

HEREDITARY CANCER IN CLINICAL PRACTICE (2022)

Add to Collection

No Data Available

© Peeref 2019-2024. All rights reserved.