المؤلفون: Daly, Mary B, Pal, Tuya, Maxwell, Kara N, Churpek, Jane, Kohlmann, Wendy, AlHilli, Zahraa, Arun, Banu, Buys, Saundra S, Cheng, Heather, Domchek, Susan M, Friedman, Susan, Giri, Veda, Goggins, Michael, Hagemann, Andrea, Hendrix, Ashley, Hutton, Mollie L, Karlan, Beth Y, Kassem, Nawal, Khan, Seema, Khoury, Katia, Kurian, Allison W, Laronga, Christine, Mak, Julie S, Mansour, John, McDonnell, Kevin, Menendez, Carolyn S, Merajver, Sofia D, Norquist, Barbara S, Offit, Kenneth, Rash, Dominique, Reiser, Gwen, Senter-Jamieson, Leigha, Shannon, Kristen Mahoney, Visvanathan, Kala, Welborn, Jeanna, Wick, Myra J, Wood, Marie, Yurgelun, Matthew B, Dwyer, Mary A, Darlow, Susan D

المصدر: Journal of the National Comprehensive Cancer Network. 21(10)

مصطلحات موضوعية: Health Services and Systems, Biomedical and Clinical Sciences, Health Sciences, Oncology and Carcinogenesis, Prostate Cancer, Genetic Testing, Ovarian Cancer, Cancer, Orphan Drug, Pancreatic Cancer, Digestive Diseases, Rare Diseases, Urologic Diseases, Breast Cancer, Genetics, Prevention, Aetiology, 2.1 Biological and endogenous factors, Male, Female, Humans, Germ-Line Mutation, Breast Neoplasms, Genetic Predisposition to Disease, Risk Factors, Ovarian Neoplasms, Oncology & Carcinogenesis, Oncology and carcinogenesis, Health services and systems

الوصف: The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic focus primarily on assessment of pathogenic/likely pathogenic (P/LP) variants associated with increased risk of breast, ovarian, pancreatic, and prostate cancer, including BRCA1, BRCA2, CDH1, PALB2, PTEN, and TP53, and recommended approaches to genetic counseling/testing and care strategies in individuals with these P/LP variants. These NCCN Guidelines Insights summarize important updates regarding: (1) a new section for transgender, nonbinary and gender diverse people who have a hereditary predisposition to cancer focused on risk reduction strategies for ovarian cancer, uterine cancer, prostate cancer, and breast cancer; and (2) testing criteria and management associated with TP53 P/LP variants and Li-Fraumeni syndrome.

الوصول الحر: https://escholarship.org/uc/item/2rc2n0kcTest

المؤلفون: Chen, Zhishan, Guo, Xingyi, Tao, Ran, Huyghe, Jeroen R., Law, Philip J., Fernandez-Rozadilla, Ceres, Ping, Jie, Jia, Guochong, Long, Jirong, Li, Chao, Shen, Quanhu, Xie, Yuhan, Timofeeva, Maria N., Thomas, Minta, Schmit, Stephanie L., Díez-Obrero, Virginia, Devall, Matthew, Moratalla-Navarro, Ferran, Fernandez-Tajes, Juan, Palles, Claire, Sherwood, Kitty, Briggs, Sarah E. W., Svinti, Victoria, Donnelly, Kevin, Farrington, Susan M., Blackmur, James, Vaughan-Shaw, Peter G., Shu, Xiao-Ou, Lu, Yingchang, Broderick, Peter, Studd, James, Harrison, Tabitha A., Conti, David V., Schumacher, Fredrick R., Melas, Marilena, Rennert, Gad, Obón-Santacana, Mireia, Martín-Sánchez, Vicente, Oh, Jae Hwan, Kim, Jeongseon, Jee, Sun Ha, Jung, Keum Ji, Kweon, Sun-Seog, Shin, Min-Ho, Shin, Aesun, Ahn, Yoon-Ok, Kim, Dong-Hyun, Oze, Isao, Wen, Wanqing, Matsuo, Keitaro, Matsuda, Koichi, Tanikawa, Chizu, Ren, Zefang, Gao, Yu-Tang, Jia, Wei-Hua, Hopper, John L., Jenkins, Mark A., Win, Aung Ko, Pai, Rish K., Figueiredo, Jane C., Haile, Robert W., Gallinger, Steven, Woods, Michael O., Newcomb, Polly A., Duggan, David, Cheadle, Jeremy P., Kaplan, Richard, Kerr, Rachel, Kerr, David, Kirac, Iva, Böhm, Jan, Mecklin, Jukka-Pekka, Jousilahti, Pekka, Knekt, Paul, Aaltonen, Lauri A., Rissanen, Harri, Pukkala, Eero, Eriksson, Johan G., Cajuso, Tatiana, Hänninen, Ulrika, Kondelin, Johanna, Palin, Kimmo, Tanskanen, Tomas, Renkonen-Sinisalo, Laura, Männistö, Satu, Albanes, Demetrius, Weinstein, Stephanie J., Ruiz-Narvaez, Edward, Palmer, Julie R., Buchanan, Daniel D., Platz, Elizabeth A., Visvanathan, Kala, Ulrich, Cornelia M., Siegel, Erin, Brezina, Stefanie, Gsur, Andrea, Campbell, Peter T., Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Slattery, Martha L., Potter, John D., Tsilidis, Kostas K., Schulze, Matthias B., Gunter, Marc J., Murphy, Neil, Castells, Antoni, Castellví-Bel, Sergi, Moreira, Leticia, Arndt, Volker, Shcherbina, Anna, Bishop, D. Timothy, Giles, Graham G., Southey, Melissa C., Idos, Gregory E., McDonnell, Kevin J., Abu-Ful, Zomoroda, Greenson, Joel K., Shulman, Katerina, Lejbkowicz, Flavio, Offit, Kenneth, Su, Yu-Ru, Steinfelder, Robert, Keku, Temitope O., van Guelpen, Bethany, Hudson, Thomas J., Hampel, Heather, Pearlman, Rachel, Berndt, Sonja I., Hayes, Richard B., Martinez, Marie Elena, Thomas, Sushma S., Pharoah, Paul D. P., Larsson, Susanna C., Yen, Yun, Lenz, Heinz-Josef, White, Emily, Li, Li, Doheny, Kimberly F., Pugh, Elizabeth, Shelford, Tameka, Chan, Andrew T., Cruz-Correa, Marcia, Lindblom, Annika, Hunter, David J., Joshi, Amit D., Schafmayer, Clemens, Scacheri, Peter C., Kundaje, Anshul, Schoen, Robert E., Hampe, Jochen, Stadler, Zsofia K., Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Edlund, Christopher K., Gauderman, W. James, Shibata, David, Toland, Amanda, Markowitz, Sanford, Kim, Andre, Chanock, Stephen J., van Duijnhoven, Franzel, Feskens, Edith J. M., Sakoda, Lori C., Gago-Dominguez, Manuela, Wolk, Alicja, Pardini, Barbara, FitzGerald, Liesel M., Lee, Soo Chin, Ogino, Shuji, Bien, Stephanie A., Kooperberg, Charles, Li, Christopher I., Lin, Yi, Prentice, Ross, Qu, Conghui, Bézieau, Stéphane, Yamaji, Taiki, Sawada, Norie, Iwasaki, Motoki, Le Marchand, Loic, Wu, Anna H., Qu, Chenxu, McNeil, Caroline E., Coetzee, Gerhard, Hayward, Caroline, Deary, Ian J., Harris, Sarah E., Theodoratou, Evropi, Reid, Stuart, Walker, Marion, Ooi, Li Yin, Lau, Ken S., Zhao, Hongyu, Hsu, Li, Cai, Qiuyin, Dunlop, Malcolm G., Gruber, Stephen B., Houlston, Richard S., Moreno, Victor, Casey, Graham, Peters, Ulrike, Tomlinson, Ian, Zheng, Wei

المصدر: Nature Communications. 15(1)

الوصف: Genome-wide association studies (GWAS) have identified more than 200 common genetic variants independently associated with colorectal cancer (CRC) risk, but the causal variants and target genes are mostly unknown. We sought to fine-map all known CRC risk loci using GWAS data from 100,204 cases and 154,587 controls of East Asian and European ancestry. Our stepwise conditional analyses revealed 238 independent association signals of CRC risk, each with a set of credible causal variants (CCVs), of which 28 signals had a single CCV. Our cis-eQTL/mQTL and colocalization analyses using colorectal tissue-specific transcriptome and methylome data separately from 1299 and 321 individuals, along with functional genomic investigation, uncovered 136 putative CRC susceptibility genes, including 56 genes not previously reported. Analyses of single-cell RNA-seq data from colorectal tissues revealed 17 putative CRC susceptibility genes with distinct expression patterns in specific cell types. Analyses of whole exome sequencing data provided additional support for several target genes identified in this study as CRC susceptibility genes. Enrichment analyses of the 136 genes uncover pathways not previously linked to CRC risk. Our study substantially expanded association signals for CRC and provided additional insight into the biological mechanisms underlying CRC development.

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-224181Test
https://doi.org/10.1038/s41467-024-47399-xTest
https://umu.diva-portal.org/smash/get/diva2:1858507/FULLTEXT01.pdfTest

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

المساهمون: Lauri Antti Aaltonen / Principal Investigator, ATG - Applied Tumor Genomics, Department of Medical and Clinical Genetics, Clinicum, Research Programs Unit, Johan Eriksson / Principal Investigator, Department of General Practice and Primary Health Care, Medicum, Genome-Scale Biology (GSB) Research Program, Faculty Common Matters (Faculty of Medicine), Faculty of Medicine, HUS Abdominal Center, Department of Surgery, II kirurgian klinikka

مصطلحات موضوعية: Ld score regression, Association, Heritability, Metaanalysis, 1184 Genetics, developmental biology, physiology

الوصف: Colorectal cancer (CRC) is a leading cause of mortality worldwide. We conducted a genome-wide association study meta-analysis of 100,204 CRC cases and 154,587 controls of European and east Asian ancestry, identifying 205 independent risk associations, of which 50 were unreported. We performed integrative genomic, transcriptomic and methylomic analyses across large bowel mucosa and other tissues. Transcriptome- and methylome-wide association studies revealed an additional 53 risk associations. We identified 155 high-confidence effector genes functionally linked to CRC risk, many of which had no previously established role in CRC. These have multiple different functions and specifically indicate that variation in normal colorectal homeostasis, proliferation, cell adhesion, migration, immunity and microbial interactions determines CRC risk. Crosstissue analyses indicated that over a third of effector genes most probably act outside the colonic mucosa. Our findings provide insights into colorectal oncogenesis and highlight potential targets across tissues for new CRC treatment and chemoprevention strategies. ; Peer reviewed

وصف الملف: application/pdf

العلاقة: At the Institute of Cancer Research, this work was supported by Cancer Research UK (CRUK, grant no. C1298/A25514 to R.S.H.). Additional support was provided by the National Cancer Research Network. In Edinburgh, the work was supported by program grant funding from CRUK (grant nos. C348/A12076 to M.G.D. and C6199/A16459 to I.T.), EU European Research Council Advanced Grant EVOCAN, and the infrastructure and staffing of the Edinburgh CRUK Cancer Research Centre. C.F.R. was supported by a Marie Sklodowska-Curie Intra-European Fellowship Action (grant no. IEF-301077) for the INTERMPHEN project and received considerable help from many staff in the Department of Endoscopy at the John Radcliffe Hospital in Oxford. Support from the European Union (grant nos. FP7/207-2013 and 258236), FP7 collaborative project SYSCOL and COST Actions EuColonGene and TransColonCan are also acknowledged (grant nos. BM1206 and CA17118 to I.T.). We are grateful to many colleagues within UK clinical genetics departments (for CORGI) and to many collaborators who participated in the VICTOR, QUASAR2 and SCOT trials. We also thank colleagues from the UK National Cancer Research Network (for NSCCG). IT acknowledges funding from CRUK program grant no. C6199/A27327. The work at Vanderbilt University Medical Center was supported by US National Institutes of Health (NIH; grant nos. R01CA188214, R37CA070867, UM1CA182910, R01CA124558, R01CA158473 and R01CA148667), as well as Anne Potter Wilson Chair funds from the Vanderbilt University School of Medicine (to W.Z.). Sample preparation and genotyping assays at Vanderbilt University were conducted at the Survey and Biospecimen Shared Resources and Vanderbilt Microarray Shared Resource, supported in part by the Vanderbilt-Ingram Cancer Center (grant no. P30CA068485). Statistical analyses were performed on servers maintained by the Advanced Computing Center for Research and Education (ACCRE) at Vanderbilt University. Genetics and Epidemiology of Colorectal Cancer Consortium (GECCC), National Cancer Institute (NCI), NIH, US Department of Health and Human Services provided grant nos. U01 CA164930, U01 CA137088, R01 CA059045, R01201407 and R01CA206279. Genotyping services were provided by the Center for Inherited Disease Research (CIDR) contract no. HHSN268201200008I. This research was funded in part through the NIH/NCI Cancer Center support grant no. P30 CA015704. Scientific Computing Infrastructure at the Fred Hutchinson Cancer Research Center was funded by ORIP grant no. S10OD028685 (to U.P.). The Colorectal Cancer Transdisciplinary (CORECT) study was supported by the NCI/NIH, US Department of Health and Human Services (grant nos. U19 CA148107, R01 CA81488, P30 CA014089, R01 CA197350, P01 CA196569 and R01 CA201407) and National Institutes of Environmental Health Sciences, NIH (grant no. T32 ES013678). The Colon Cancer Family Registry (CCFR) participant recruitment and collection of data and biospecimens used in the present study were supported by the NCI, NIH (grant no. U01 CA167551). OFCCR was supported through funding allocated to the Ontario Registry for Studies of Familial Colorectal Cancer (grant no. U01 CA074783). The content of this manuscript does not necessarily reflect the views or policies of the NCI or any of the collaborating centers in the CCFR, and the mention of trade names, commercial products or organizations does not imply endorsement by the US Government, any cancer registry or the CCFR.; Fernandez-Rozadilla , C , Timofeeva , M , Chen , Z , Law , P , Thomas , M , Bien , S , Diez-Obrero , V , Li , L , Fernandez-Tajes , J , Palles , C , Sherwood , K , Harris , S , Svinti , V , McDonnell , K , Farrington , S , Studd , J , Vaughan-Shaw , P , Shu , X , Long , J , Cai , Q , Guo , X , Lu , Y , Scacheri , P , Studd , J , Huyghe , J , Harrison , T , Shibata , D , Haiman , C , Devall , M , Schumacher , F , Melas , M , Rennert , G , Obon-Santacana , M , Martin-Sanchez , V , Moratalla-Navarro , F , Oh , J H , Kim , J , Jee , S H , Jung , K J , Kweon , S-S , Shin , M-H , Shin , A , Ahn , Y-O , Kim , D-H , Oze , I , Wen , W , Matsuo , K , Matsuda , K , Tanikawa , C , Ren , Z , Gao , Y-T , Jia , W-H , Potter , J , Jenkins , M , Win , A K , Pai , R , Figueiredo , J , Haile , R , Gallinger , S , Woods , M , Newcomb , P , Shibata , D , Cheadle , J , Kaplan , R , Maughan , T , Kerr , R , Kerr , D , Kirac , I , Boehm , J , Mecklin , L-P , Jousilahti , P , Knekt , P , Aaltonen , L , Rissanen , H , Pukkala , E , Eriksson , J , Cajuso , T , Hanninen , U , Kondelin , J , Palin , K , Tanskanen , T , Renkonen-Sinisalo , L , Zanke , B , Männistö , S , Albanes , D , Weinstein , S , Ruiz-Narvaez , E , Palmer , J , Buchanan , D , Platz , E , Visvanathan , K , Ulrich , C , Siegel , E , Brezina , S , Gsur , A , Campbell , P , Chang-Claude , J , Hoffmeister , M , Brenner , H , Slattery , M , Potter , J , Tsilidis , K , Schulze , M , Gunter , M , Murphy , N , Castells , A , Castellvi-Bel , S , Moreira , L , Arndt , V , Shcherbina , A , Stern , M , Pardamean , B , Bishop , T , Giles , G , Southey , M , Idos , G , McDonnell , K , Abu-Ful , Z , Greenson , J , Shulman , K , Lejbkowicz , F , Offit , K , Su , Y-R , Steinfelder , R , Keku , T , van Guelpen , B , Hudson , T , Hampel , H , Pearlman , R , Berndt , S , Hayes , R , Martinez , M E , Thomas , S , Corley , D , Pharoah , P , Larsson , S , Yen , Y , Lenz , H-J , White , E , Li , L , Doheny , K , Pugh , E , Shelford , T , Chan , A , Cruz-Correa , M , Lindblom , A , Shibata , D , Joshi , A , Schafmayer , C , Scacheri , P , Kundaje , A , Nickerson , D , Schoen , R , Hampe , J , Stadler , Z , Vodicka , P , Vodickova , L , Vymetalkova , V , Papadopoulos , N , Edlund , C , Gauderman , W , Thomas , D , Shibata , D , Toland , A , Markowitz , S , Kim , A , Gruber , S , van Duijnhoven , F , Feskens , E , Sakoda , L , Gago-Dominguez , M , Wolk , A , Naccarati , A , Pardini , B , FitzGerald , L , Lee , S C , Ogino , S , Bien , S , Kooperberg , C , Li , C , Lin , Y , Prentice , R , Qu , C , Bezieau , S , Tangen , C , Mardis , E , Yamaji , T , Sawada , N , Iwasaki , M , Haiman , C , Le Marchand , L , Wu , A , Qu , C , McNeil , C , Coetzee , G , Hayward , C , Deary , I , Harris , S , Theodoratou , E , Reid , S , Walker , M , Ooi , L Y , Moreno , V , Casey , G , Gruber , S , Tomlinson , I , Zheng , W , Dunlop , M , Houlston , R & Peters , U 2023 , ' Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries ' , Nature Genetics , vol. 55 , no. 1 , pp. 89-+ . https://doi.org/10.1038/s41588-022-01222-9Test; ORCID: /0000-0001-6839-4286/work/141181577; cbb517df-9c63-4e9a-886d-288dbdd29927; http://hdl.handle.net/10138/572963Test; 001001563800001

الإتاحة: http://hdl.handle.net/10138/572963Test

المؤلفون: Shehayeb, Susan, Elfarawi, Hunaydah, Wilson, Kaila, Park, Wai, Chitre, Anuja, Shaktah, Lawrence, Sturgeon, Duveen, McDonnell, Kevin, Hampel, Heather, Capasso, Alexandra, Gray, Stacy

المصدر: Genetics in Medicine Open ; volume 2, page 100965 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.100965Test
https://api.elsevier.com/content/article/PII:S2949774424001110?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424001110?httpAccept=text/plainTest

المؤلفون: Gima, Lauren, Fujii, Christina, Restrepo, Michael, Rybak, Christina, Sobotka, Elise, Zukin, Elyssa, Shaktah, Lawrence, Jeter, Joanne, McDonnell, Kevin, Park, Wai, Idos, Gregory, Hampel, Heather, Gray, Stacy

المصدر: Genetics in Medicine Open ; volume 2, page 100941 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.100941Test
https://api.elsevier.com/content/article/PII:S2949774424000876?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424000876?httpAccept=text/plainTest

المؤلفون: Park, Wai, Zukin, Elyssa, Manookian, Rachelle, McDonnell, Kevin, Szelinger, Szabolcs, Zhumkhawala, Ali, Gray, Stacy

المصدر: Genetics in Medicine Open ; volume 2, page 100959 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.100959Test
https://api.elsevier.com/content/article/PII:S2949774424001055?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424001055?httpAccept=text/plainTest

مستخلص: A shock absorbing system for force attenuation, impact modification or reduction, employs an envelope having a chamber containing a first working fluid, the envelope deformable in response to the impulse to attenuate impact force. A plurality of resilient supplemental absorber elements dispersed within the chamber. The plurality of resilient supplemental absorber elements are deformable in response to the force to assist in attenuating impact force and provide additional resilient restoring force to return the envelope to a pre-impact shape. In alternative implementations, a unitary cell for energy dissipation employs an envelope having a chamber containing a first working fluid and an inner element contained within the chamber and having an inner chamber containing a second working fluid.

المؤلفون: Goodfield, Laura L, Hammer, Robert P, Lu, Winston, Hill, Katie, Ashworth, Tamera, Gardner, Hannah S, Mascheroni, Luca, Scott, Heather, Martin, Tazmin, Masureel, Matthieu, Uhlenbroich, Sandra, Dodds, Rachel, Amaral, Marta, Kristenson, Julia, Mudd, Gemma E, Chen, Liuhong, McDonnell, Kevin, Brandish, Philip, Keen, Nicholas

المصدر: Regular and Young Investigator Award Abstracts

الإتاحة: https://doi.org/10.1136/jitc-2023-sitc2023.1124Test

المؤلفون: McDonnell, Kevin J, Chemler, Joseph A, Bartels, Phillip L, O’Brien, Elizabeth, Marvin, Monica L, Ortega, Janice, Stern, Ralph H, Raskin, Leon, Li, Guo-Min, Sherman, David H, Barton, Jacqueline K, Gruber, Stephen B

المصدر: Nature Chemistry. 10(8)

مصطلحات موضوعية: Chemical Sciences, Colo-Rectal Cancer, Genetics, Digestive Diseases, Cancer, Generic health relevance, Adenomatous Polyposis Coli, Colonic Neoplasms, DNA Glycosylases, Genetic Variation, Humans, Iron-Sulfur Proteins, Mutation, Oxidation-Reduction, Organic Chemistry, Chemical sciences

الوصف: The human DNA repair enzyme MUTYH excises mispaired adenine residues in oxidized DNA. Homozygous MUTYH mutations underlie the autosomal, recessive cancer syndrome MUTYH-associated polyposis. We report a MUTYH variant, p.C306W (c.918C>G), with a tryptophan residue in place of native cysteine, that ligates the [4Fe4S] cluster in a patient with colonic polyposis and family history of early age colon cancer. In bacterial MutY, the [4Fe4S] cluster is redox active, allowing rapid localization to target lesions by long-range, DNA-mediated signalling. In the current study, using DNA electrochemistry, we determine that wild-type MUTYH is similarly redox-active, but MUTYH C306W undergoes rapid oxidative degradation of its cluster to [3Fe4S]+, with loss of redox signalling. In MUTYH C306W, oxidative cluster degradation leads to decreased DNA binding and enzyme function. This study confirms redox activity in eukaryotic DNA repair proteins and establishes MUTYH C306W as a pathogenic variant, highlighting the essential role of redox signalling by the [4Fe4S] cluster.

الوصول الحر: https://escholarship.org/uc/item/6212686gTest

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

المصدر: Nature Genetics (2023) ; ISSN: 1061-4036

مصطلحات موضوعية: Life Science

الوصف: In the version of this article initially published, the author affiliations incorrectly listed “Candiolo Cancer Institute FPO-IRCCS, Candiolo (TO), Italy” as “Candiolo Cancer Institute, Candiolo, Italy.” The change has been made to the HTML and PDF versions of the article.

وصف الملف: application/pdf

العلاقة: https://edepot.wur.nl/589165Test; https://research.wur.nl/en/publications/author-correction-deciphering-colorectal-cancer-genetics-throughTest-

الإتاحة: https://doi.org/10.1038/s41588-023-01334-wTest
https://research.wur.nl/en/publications/author-correction-deciphering-colorectal-cancer-genetics-throughTest-