Article
Oncology
Evan M. M. Braunstein, Eddie Imada, Sergiu Pasca, Shiyu Wang, Hang Chen, Camille Alba, Dan N. N. Hupalo, Matthew Wilkerson, Clifton L. L. Dalgard, Jack Ghannam, Yujia Liu, Luigi Marchionni, Alison Moliterno, Christopher S. S. Hourigan, Lukasz P. P. Gondek
Summary: Genetic predisposition to myeloproliferative neoplasms (MPNs) is more common than in most other cancers. This study identified an ATM L2307F single nucleotide variant (SNV) occurring in nearly 8% of individuals with familial MPN, suggesting a link between ATM and MPN predisposition. Structural protein modeling of this variant indicated the stabilization of inactive ATM dimer and alteration of downstream tumor suppressor CHEK2 phosphorylation.
Article
Oncology
Owen J. Chen, Ester Castellsague, Mohamed Moustafa-Kamal, Javad Nadaf, Barbara Rivera, Somayyeh Fahiminiya, Yilin Wang, Isabelle Gamache, Caterina Pacifico, Lai Jiang, Jian Carrot-Zhang, Leora Witkowski, Albert M. Berghuis, Stefan Schoenberger, Dominik Schneider, Morten Hillmer, Susanne Bens, Reiner Siebert, Colin J. R. Stewart, Ziguo Zhang, William C. H. Chao, Celia M. T. Greenwood, David Barford, Marc Tischkowitz, Jacek Majewski, William D. Foulkes, Jose G. Teodoro
Summary: Two germline CDC20 missense variants that segregate with cancer in two families compromise the spindle assembly checkpoint and lead to aberrant mitotic progression, which could predispose cells to transformation.
Article
Oncology
Diane R. Koeller, Alison Schwartz, Mia S. DeSimone, Huma Q. Rana, Vanesa Rojas-Rudilla, Eleanor Russell-Goldman, Alvaro C. Laga, Neal I. Lindeman, Judy E. Garber, Arezou A. Ghazani
Summary: This study reports the presence of a germline MITF p.E318K pathogenic variant in a woman with vulvar melanoma and a family history of cutaneous melanoma. This finding highlights the potential role of MITF p.E318K in risk assessment and clinical management of patients with vulvar melanoma.
Article
Genetics & Heredity
Yoshimi Kiyozumi, Keisuke Goto, Shusuke Yoshikawa, Yoshio Kiyohara, Takahiro Tsushima, Nobuhiro Kado, Seiichiro Nishimura, Satomi Higashigawa, Rina Harada, Kana Kunitomo, Naomi Fukuzaki, Hiroyuki Matsubayashi
Summary: This article reports on a rare case of familial malignant melanoma (FMM) in Japan, where a woman with FMM developed salivary gland cancer. Through comprehensive genomic profiling, a germline pathogenic variant of CDK4 was incidentally identified. The patient had a history of multiple atypical nevi and facial melanoma, as well as multiple family cases of melanoma, but none of her relatives were aware of its hereditary nature. The patient received genetic counseling and skin surveillance for treatment.
JOURNAL OF HUMAN GENETICS
(2023)
Article
Medicine, General & Internal
Yann Le Guen, Ana-Caroline Raulin, Mark W. Logue, Richard Sherva, Michael E. Belloy, Sarah J. Eger, Annabel Chen, Gabriel Kennedy, Lindsey Kuchenbecker, Justin P. O'Leary, Rui Zhang, Victoria C. Merritt, Matthew S. Panizzon, Richard L. Hauger, J. Michael Gaziano, Guojun Bu, Timothy A. Thornton, Lindsay A. Farrer, Valerio Napolioni, Zihuai He, Michael D. Greicius
Summary: Numerous studies have shown the association between common APOE alleles and Alzheimer's disease risk across different ancestries. However, there is a lack of research on the interaction between these alleles and other amino acid changes specific to individuals of African ancestry. This study aimed to investigate whether APOE amino acid changes related to African ancestry modulate the risk of Alzheimer's disease.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2023)
Article
Oncology
Anne Zaremba, Friedegund Meier, Christian Schlein, Philipp Jansen, Georg Lodde, Mingxia Song, Julia Kretz, Inga Moller, Nadine Stadtler, Elisabeth Livingstone, Lisa Zimmer, Eva Hadaschik, Antje Sucker, Dirk Schadendorf, Klaus Griewank
Summary: Around 10% of melanoma cases have a suspected familial predisposition. TERT promoter mutations are common in human cancers, but only a few cases with germline mutations have been identified so far. This study provides detailed analysis of affected patients in a previously reported family, including their histological, clinical, and molecular pathologic characteristics. The study also identifies TERT promoter variants in all melanoma-affected members of the family. Primary melanomas in these patients commonly occur on the upper extremities and are of the superficial spreading melanoma subtype, but can also occur in non-UV-exposed mucosal and acral locations. Additional genetic mutations were found in some samples, suggesting the involvement of other pathways in tumor development. Treatment with BRAF inhibitor and/or immune checkpoint inhibition showed responses, but with limited duration. One mucosal melanoma case showed a positive response to KIT inhibitor therapy after an initial response to immune checkpoint inhibition.
PIGMENT CELL & MELANOMA RESEARCH
(2022)
Article
Genetics & Heredity
Audrey N. Jajosky, Anna L. Mitchell, Mahmut Akgul, Shashirekha Shetty, Jennifer M. Yoest, Stanton L. Gerson, Navid Sadri, Kwadwo A. Oduro
Summary: Germline disruptive variants in the POT1 gene predispose individuals to multiple types of cancer. We report a case of splenic marginal zone lymphoma in a 65-year-old male with a germline POT1 variant. This likely pathogenic variant represents one of the most deleterious POT1 variants linked to familial cancer.
Article
Genetics & Heredity
Shiroh Miura, Tomofumi Shimojo, Takuya Morikawa, Takashi Kamada, Yusuke Uchiyama, Seiji Kurata, Ryuta Fujioka, Hiroki Shibata
Summary: Paroxysmal kinesigenic dyskinesia (PKD) is characterized by movement attacks triggered by sudden movements, acceleration, or intention to move. A study of two Japanese familial cases revealed possible involvement of variants in the NBEA gene.
JOURNAL OF HUMAN GENETICS
(2021)
Article
Dermatology
Tuntas Rayinda, Sheila M. McSweeney, Hiva Fassihi, David Fenton, Lu Liu, Catherine M. Stefanato, Nick Dand, John A. McGrath, Christos Tziotzios
Summary: HYPT12 is an autosomal dominant, nonsyndromic hypotrichosis caused by a pathogenic variant in the RPL21 gene. We report a case of a 44-year-old White British man with progressive hair loss, and whole-exome sequencing identified a rare heterozygous missense variant in RPL21. This variant was confirmed to segregate in affected family members.
CLINICAL AND EXPERIMENTAL DERMATOLOGY
(2023)
Review
Medicine, General & Internal
Lamberto Zocchi, Alberto Lontano, Martina Merli, Emi Dika, Eduardo Nagore, Pietro Quaglino, Susana Puig, Simone Ribero
Summary: A family history of melanoma increases the risk of developing cutaneous melanoma, with CDKN2A mutations being the most characterized. Multiple genes are implicated in familial melanoma, increasing the risk of developing multiple primary melanomas and other internal organ malignancies. Genetic testing and surveillance are crucial for prevention, but predicting the presence of mutations is still difficult due to polygenic inheritance and environmental factors.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Oncology
Saba Alsaddah, Andreas I. Papadakis, Nora Wong, Laura Palma, David Szlachtycz, Tania Cruz Marino, Pierre-Olivier Fiset, William Foulkes
Summary: This article reports a case of familial lung adenocarcinoma caused by a rare germline missense variant in exon 21 of EGFR. The variant coexisted with another known pathogenic EGFR variant in the tumor. The article highlights the complexity of lung cancer predisposition factor evaluation and proposes an algorithm for identifying at-risk individuals and families.
Article
Pathology
Thomas Strecker, Felix Wiesmueller, Sabine Rudnik-Schoeneborn, Juliane Hoyer, Andre Reis, Michael Weyand, Abbas Agaimy
Summary: Aortic dissection is a life-threatening cardiovascular disease, and understanding the genetic causes, such as mutations of the ACTA2 gene, is crucial for identifying at-risk individuals and providing appropriate management and surveillance strategies.
Article
Hematology
M. Abdullah Said, Ming Wai Yeung, Yordi J. van de Vegte, Jan Walter Benjamins, Robin P. F. Dullaart, Sanni Ruotsalainen, Samuli Ripatti, Pradeep Natarajan, Luis Eduardo Juarez-Orozco, Niek Verweij, P. van der Harst
Summary: This study identified 40 genetic loci associated with Lp(a) concentrations and confirmed a causal relationship between Lp(a) and CAD, independent of LDL cholesterol. The findings suggest an LDL cholesterol-independent causal link between Lp(a) and CAD.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Beiping Miao, Diamanto Skopelitou, Aayushi Srivastava, Sara Giangiobbe, Dagmara Dymerska, Nagarajan Paramasivam, Abhishek Kumar, Magdalena Kuswik, Wojciech Kluzniak, Katarzyna Paszkowska-Szczur, Matthias Schlesner, Jan Lubinski, Kari Hemminki, Asta Foersti, Obul Reddy Bandapalli
Summary: In this study, a novel germline variant in the PTK7 gene associated with genetic predisposition to colorectal cancer was identified through whole-exome sequencing. Further investigations revealed the oncogenic function of PTK7, including increased cell proliferation, migration, and invasion, inhibition of apoptosis pathways, and activation of AKT signaling.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Oncology
Vylyny Chat, Sasha Dagayev, Una Moran, Matija Snuderl, Jeffrey Weber, Robert Ferguson, Iman Osman, Tomas Kirchhoff
Summary: In this study, two germline variants were found to be associated with melanoma prognosis, implicating MELK and SH3BP4 genes, which have been previously suggested to affect melanoma progression. These findings suggest that genetic factors may improve the prognostic stratification of high-risk early-stage melanoma patients and provide potential biological insights for therapeutic investigations.
FRONTIERS IN ONCOLOGY
(2023)
Letter
Dermatology
Francesc Alamon-Reig, Mar Luque-Luna, Laura Serra-Garcia, Ignasi Marti-Marti, Josep Riera-Monroig, Irene Fuertes, Paula Aguilera-Peiro
PHOTODERMATOLOGY PHOTOIMMUNOLOGY & PHOTOMEDICINE
(2023)
Article
Oncology
Sofia Birkealv, Mark Harland, Larissa Satiko Alcantara Sekimoto Matsuyama, Mamun Rashid, Ishan Mehta, Jonathan P. Laye, Kerstin Haase, Tracey Mell, Vivek Iyer, Carla Daniela Robles-Espinoza, Ultan McDermott, Peter van Loo, Marieke L. Kuijjer, Patricia A. Possik, Silvya Stuchi Maria Engler, D. Timothy Bishop, Julia Newton-Bishop, David J. Adams
Summary: This study conducted sequence profiling of 524 American Joint Committee on Cancer Stage I-III primary tumors, revealing recurrent driver mutations, mutually exclusive genetic interactions, and an absence of co-occurring genetic events. By intersecting copy number calls with CRISPR screening data, the transcription factor IRF4 was identified as a melanoma-associated dependency.
JOURNAL OF PATHOLOGY
(2023)
Letter
Dermatology
Neus Calbet-Llopart, Gemma Tell-Marti, Judit Mateu, Marta Feito, Silvestre Martinez, Susana Puig, Josep Malvehy, Cristina Carrera, Joan A. Puig-Butille
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2023)
Article
Medical Informatics
Albert Burger, Richard A. Baldock, David J. Adams, Shahida Din, Irene Papatheodorou, Michael Glinka, Bill Hill, Derek Houghton, Mehran Sharghi, Michael Wicks, Mark J. Arends
Summary: This study describes a conceptual coordinate model for the Gut Cell Atlas, which represents the location of the human gut in 1D, 2D, and 3D models. It allows clinicians and pathologists to accurately describe gut locations and perform cell comparison analysis.
BMC MEDICAL INFORMATICS AND DECISION MAKING
(2023)
Article
Oncology
Elom K. Aglago, Andre Kim, Yi Lin, Conghui Qu, Marina Evangelou, Yu Ren, John Morrison, Demetrius Albanes, Volker Arndt, Elizabeth L. Barry, James W. Baurley, Sonja Berndt, Stephanie A. Bien, D. Timothy Bishop, Emmanouil Bouras, Hermann Brenner, Daniel D. Buchanan, Ari Budiarto, Robert Carreras-Torres, Graham Casey, Tjeng Wawan Cenggoro, Andrew T. Chen, Jenny Chang-Claude, Xuechen Chen, David Conti, Matthew Devall, Virginia Diez-Obrero, Niki Dimou, David Drew, Jane C. Figueiredo, Steven Gallinger, Graham G. Giles, Stephen B. Gruber, Andrea Gsur, Marc J. Gunter, Heather Hampel, Sophia Harlid, Akihisa Hidaka, Tabitha A. Harrison, Michael Hoffmeister, Jeroen R. Huyghe, Mark A. Jenkins, Kristina Jordahl, Amit D. Joshi, Eric S. Kawaguchi, Temitope O. Keku, Anshul Kundaje, Susanna C. Larsson, Loic Le Marchand, Juan Pablo Lewinger, Li Li, Brigid M. Lynch, Bharuno Mahesworo, Marko Mandic, Mireia Obon-Santacana, Victor Morento, Neil Murphy, Hongmei Men, Rami Nassir, Polly A. Newcomb, Shuji Ogino, Jennifer Ose, Rish K. Pai, Julie R. Palmer, Nikos Papadimitriou, Bens Pardamean, Anita R. Peoples, Elizabeth A. Platz, John D. Potter, Ross L. Prentice, Gad Rennert, Edward Ruiz-Narvaez, Lori C. Sakoda, Peter C. Scacheri, Stephanie L. Schmit, Robert E. Schoen, Anna Shcherbina, Martha L. Slattery, Mariana C. Stern, Yu-Ru Su, Catherine M. Tangen, Stephen N. Thibodeau, Duncan C. Thomas, Yu Tian, Cornelia M. Ulrich, Franzel J. B. van Duijnhoven, Bethany Van Guelpen, Kala Visvanathan, Pavel Vodicka, Jun Wang, Emily White, Alicja Wolk, Michael O. Woods, Anna H. Wu, Natalia Zemlianskaia, Li Hsu, W. James Gauderman, Ulrike Peters, Konstantinos K. Tsilidis, Peter T. Campbell
Summary: Colorectal cancer risk is influenced by genetic, environmental, and lifestyle factors. This study identified a gene-environment interaction between body mass index (BMI) and a specific gene that increases the risk of colorectal cancer.
Letter
Dermatology
C. Lenoir, J. Perez-Anker, L. Tognetti, E. Cinotti, A. L. Trepant, P. Rubegni, S. Puig, J. L. Perrot, J. Malvehy, V. del Marmol, M. Suppa
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2023)
Article
Oncology
Sara Lindstrom, Lu Wang, Helian Feng, Arunabha Majumdar, Sijia Huo, James Macdonald, Tabitha Harrison, Constance Turman, Hongjie Chen, Nicholas Mancuso, Theo Bammler, Steve Gallinger, Stephen B. Gruber, Marc J. Gunter, Loic Le Marchand, Victor Moreno, Kenneth Offit, Immaculata De Vivo, Tracy A. O'Mara, Amanda B. Spurdle, Ian Tomlinson, Rebecca Fitzgerald, Puya Gharahkhani, Ines Gockel, Janusz Jankowski, Stuart Macgregor, Johannes Schumacher, Jill Barnholtz-Sloan, Melissa L. Bondy, Richard S. Houlston, Robert B. Jenkins, Beatrice Melin, Margaret Wrensch, Paul Brennan, David C. Christiani, Mattias Johansson, James Mckay, Melinda C. Aldrich, Christopher Amos, Maria Teresa Landi, Adonina Tardon, D. Timothy Bishop, Florence Demenais, Alisa M. Goldstein, Mark M. Iles, Peter A. Kanetsky, Matthew H. Law, Laufey T. Amundadottir, Rachael Stolzenberg-Solomon, Brian M. Wolpin, Alison Klein, Gloria Petersen, Harvey Risch, Stephen J. Chanock, Mark P. Purdue, Ghislaine Scelo, Paul Pharoah, Siddhartha Kar, Rayjean J. Hung, Bogdan Pasaniuc, Peter Kraft
Summary: This study quantified the shared genetic contribution to risk of different cancers and identified novel cancer susceptibility loci using data from 12 cancer genome-wide association studies. The results suggest that some genetic risk variants are shared among cancers, but most of cancer heritability is specific to certain tissues. Cross-disease analysis allows for increased statistical power and the identification of new susceptibility regions. Future studies are likely to discover additional regions associated with the risk of multiple cancer types.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2023)
Letter
Multidisciplinary Sciences
Maria Pascual-Torner, Victor Quesada
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Oncology
Niki Dimou, Andre E. Kim, Orlagh Flanagan, Neil Murphy, Virginia Diez-Obrero, Anna Shcherbina, Elom K. Aglago, Emmanouil Bouras, Peter T. Campbell, Graham Casey, Steven Gallinger, Stephen B. Gruber, Mark A. Jenkins, Yi Lin, Victor Moreno, Edward Ruiz-Narvaez, Mariana C. Stern, Yu Tian, Kostas K. Tsilidis, Volker Arndt, Elizabeth L. Barry, James W. Baurley, Sonja I. Berndt, Stephane Bezieau, Stephanie A. Bien, D. Timothy Bishop, Hermann Brenner, Arif Budiarto, Robert Carreras-Torres, Tjeng Wawan Cenggoro, Andrew T. Chan, Jenny Chang-Claude, Stephen J. Chanock, Xuechen Chen, David V. Conti, Christopher H. Dampier, Matthew Devall, David A. Drew, Jane C. Figueiredo, Graham G. Giles, Andrea Gsur, Tabitha A. Harrison, Akihisa Hidaka, Michael Hoffmeister, Jeroen R. Huyghe, Kristina Jordahl, Eric Kawaguchi, Temitope O. Keku, Susanna C. Larsson, Loic Le Marchand, Juan Pablo Lewinger, Li Li, Bharuno Mahesworo, John Morrison, Polly A. Newcomb, Christina C. Newton, Mireia Obon-Santacana, Jennifer Ose, Rish K. Pai, Julie R. Palmer, Nikos Papadimitriou, Bens Pardamean, Anita R. Peoples, Paul D. P. Pharoah, Elizabeth A. Platz, John D. Potter, Gad Rennert, Peter C. Scacheri, Robert E. Schoen, Yu-Ru Su, Catherine M. Tangen, Stephen N. Thibodeau, Duncan C. Thomas, Cornelia M. Ulrich, Caroline Y. Um, Franzel J. B. van Duijnhoven, Kala Visvanathan, Pavel Vodicka, Ludmila Vodickova, Emily White, Alicja Wolk, Michael O. Woods, Conghui Qu, Anshul Kundaje, Li Hsu, W. James Gauderman, Marc J. Gunter, Ulrike Peters
Summary: Diabetes is a risk factor for colorectal cancer, but the mechanisms and genetic variants affecting this relationship are still unclear. Through genome-wide gene-environment interaction analysis, it was found that variations in insulin signaling gene (SLC30A8) and immune function gene (LRCH1) may modify the association between diabetes and colorectal cancer risk.
BRITISH JOURNAL OF CANCER
(2023)
Article
Cell Biology
Guia Cerretelli, Ying Zhou, Mike F. Muller, David J. Adams, Mark J. Arends
Summary: This study found that defective MMR interacts with acetaldehyde, enhancing colonic tumor formation. Loss of ALDH1B1 increases acetaldehyde levels and DNA damage that interacts with dMMR to accelerate colonic tumor formation.
DISEASE MODELS & MECHANISMS
(2023)
Article
Urology & Nephrology
Stella Koutros, Lambertus A. Kiemeney, Parichoy Pal Choudhury, Roger L. Milne, Evangelina Lopez de Maturana, Yuanqing Ye, Vijai Joseph, Oscar Florez-Vargas, Lars Dyrskjot, Jonine Figueroa, Diptavo Dutta, Graham G. Giles, Michelle A. T. Hildebrandt, Kenneth Offit, Manolis Kogevinas, Elisabete Weiderpass, Marjorie L. McCullough, Neal D. Freedman, Demetrius Albanes, Charles Kooperberg, Victoria K. Cortessis, Margaret R. Karagas, Alison Johnson, Molly R. Schwenn, Dalsu Baris, Helena Furberg, Dean F. Bajorin, Olivier Cussenot, Geraldine Cancel-Tassin, Simone Benhamou, Peter Kraft, Stefano Porru, Angela Carta, Timothy Bishop, Melissa C. Southey, Giuseppe Matullo, Tony Fletcher, Rajiv Kumar, Jack A. Taylor, Philippe Lamy, Frederik Prip, Mark Kalisz, Stephanie J. Weinstein, Jan G. Hengstler, Silvia Selinski, Mark Harland, Mark Teo, Anne E. Kiltie, Adonina Tardon, Consol Serra, Alfredo Carrato, Reina Garcia-Closas, Josep Lloreta, Alan Schned, Petra Lenz, Elio Riboli, Paul Brennan, Anne Tjonneland, Thomas Otto, Daniel Ovsiannikov, Frank Volkert, Sita H. Vermeulen, K. K. Aben, Tessel E. Galesloot, Constance Turman, Immaculata De Vivo, Edward Giovannucci, David J. Hunter, Chancellor Hohensee, Rebecca Hunt, Alpa V. Patel, Wen-Yi Huang, Gudmar Thorleifsson, Manuela Gago-Dominguez, Pilar Amiano, Klaus Golka, Mariana C. Stern, Wusheng Yan, Jia Liu, Shengchao Alfred, Shilpa Katta, Amy Hutchinson, Belynda Hicks, William A. Wheeler, Mark P. Purdue, Katherine A. McGlynn, Cari M. Kitahara, Christopher A. Haiman, Mark H. Greene, Thorunn Rafnar, Nilanjan Chatterjee, Stephen J. Chanock, Xifeng Wu, Francisco X. Real, Debra T. Silverman, Montserrat Garcia-Closas, Kari Stefansson, Ludmila Prokunina-Olsson, Nuria Malats, Nathaniel Rothman
Summary: A meta-analysis of 32 studies identified novel genetic variants associated with bladder cancer risk and constructed a polygenic risk score (PRS) to stratify lifetime risk. These findings provide insights into the biological underpinnings of bladder cancer and have the potential to inform future preventive strategies.
Letter
Dermatology
Dina Aktas, Gerardo Palmisano, Elisa Cinotti, Linda Tognetti, Jean-Luc Perrot, Javiera Perez-Anker, Pietro Rubegni, Susana Puig, Josep Malvehy, Ketty Peris, Veronique del Marmol, Mariano Suppa
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2023)
Letter
Dermatology
Gerardo Palmisano, Carmen Orte Cano, Margot Fontaine, Clement Lenoir, Elisa Cinotti, Linda Tognetti, Pietro Rubegni, Javiera Perez-Anker, Susana Puig, Josep Malvehy, Jean-Luc Perrot, Veronique del Marmol, Ketty Peris, Mariano Suppa
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2023)
Letter
Biotechnology & Applied Microbiology
Douglas M. Fowler, David J. Adams, Anna L. Gloyn, William C. Hahn, Debora S. Marks, Lara A. Muffley, James T. Neal, Frederick P. Roth, Alan F. Rubin, Lea M. Starita, Matthew E. Hurles, Nadav Ahituv, Orli G. Bahcal, Dustin Baldridge, Jonathan S. Berg, Alice H. Berger, Aisha Haley Bianchi, Benedetta Bolognesi, Michael Boutros, Steven Brenner, Matthew H. Brush, Vanessa Bryant, Carol J. Bult, Martha Bulyk, Melissa Call, Hannah Carter, Melina Claussnitzer, Feng Chen, Melissa S. Cline, Josh T. Cuperus, Moez Dawood, Hannah N. De Jong, Mafalda Dias, Michael Dunn, Jesse Engreitz, Kyle Farh, Phillip G. Febbo, Stanley Fields, Gregory M. Findlay, Helen Firth, James S. Fraser, Jonathan Frazer, Mattia Frontini, Irene Gallego Romero, Andrew M. Glazer, Murat Gueler, Rasmus Hartmann-Petersen, Richard Houlston, Kuan-Lin Huang, Carolyn M. Hutter, Sujatha Jagannathan, Richard G. James, Martin Kampmann, Rachel Karchin, Justin B. Kinney, Alexis C. Komor, Sriram Kosuri, Ben Lehner, Kresten Lindorff-Larsen, Zane Lombard, Daniel G. MacArthur, Maria Martin, Ultan McDermott, Shannon M. McNulty, Alex N. Nguyen Ba, Anne O'Donnell-Luria, Brian J. O'Roak, Victoria N. Parikh, Leopold Parts, Michael J. Pazin, Tina Pesaran, Slave Petrovski, Christine Queitsch, David E. Root, Jay Shendure, Amanda B. Spurdle, Kevin L. Taylor, Clare Turnbull, Judit Villen, L. E. L. M. Vissers, Alex H. Wagner, Matthew J. Wakefield, Jochen Weile, Jenny Xiao
Summary: Sequencing has identified numerous genetic variants in humans, but their functional effects remain largely unknown, hindering precision medicine. However, multiplexed variant effect assays can assess large numbers of variants simultaneously, generating variant effect maps that reveal the functional impact of every possible single nucleotide change. Creating an "Atlas" of variant effect maps for all protein encoding genes and regulatory elements in the human genome would revolutionize our understanding of genetics and enable advancements in therapeutics, human evolution, and disease diagnosis and treatment.
Letter
Surgery
Daniel Humaran Cozar, Javiera Perez-Anker, Pedro Fernandez Ruiz, Eva Castella Fernandez, Laia Perez Roca, Lidia Blay Aulina, Iciar Pascual Miguel, Susana Puig Sarda, Josep Malvehy Guilera, Joan Francesc Julian Ibanez
BRITISH JOURNAL OF SURGERY
(2023)