Article
Computer Science, Artificial Intelligence
Haicang Zhang, Michelle S. Xu, Xiao Fan, Wendy K. Chung, Yufeng Shen
Summary: Computational method gMVP based on graph attention neural networks is developed to accurately predict pathogenic missense variants, and it shows superior performance compared to other methods. The pooling of information and transfer learning capability of gMVP contribute to its improved interpretation of missense variants.
NATURE MACHINE INTELLIGENCE
(2022)
Article
Genetics & Heredity
C. Cubuk, A. Garrett, S. Choi, L. King, C. Loveday, B. Torr, G. J. Burghel, M. Durkie, A. Callaway, R. Robinson, J. Drummond, I Berry, A. Wallace, D. Eccles, M. Tischkowitz, N. Whiffin, J. S. Ware, H. Hanson, C. Turnbull
Summary: The study evaluated the predictive performance of 44 commonly used in silico tools against clinically validated functional truth sets, finding that most tool-threshold combinations had specificity of <50%, leading to substantial overcalling of deleteriousness. REVEL and Meta-SNP demonstrated the best balanced accuracy and could potentially be used with stronger evidence weighting than current ACMG/AMP guidelines, particularly for predictions of benignity.
GENETICS IN MEDICINE
(2021)
Article
Multidisciplinary Sciences
Marwa Mahdouani, Slim Ben Ahmed, Fahmi Hmila, Henda Rais, Rihab Ben Sghaier, Hanene Saad, Mariem Ben Said, Saber Masmoudi, Dorra Hmida, Angela Brieger, Stefan Zeuzem, Ali Saad, Moez Gribaa, Guido Plotz
Summary: This study identified three MLH1 missense alterations and determined their pathogenicity through laboratory testing. Two of the variants were confirmed to be pathogenic, enabling predictive testing and targeted surveillance in carrier family members.
Article
Oncology
C. J. H. Kramer, L. Lanjouw, D. Ruano, A. ter Elst, G. Santandrea, N. Solleveld-Westerink, N. Werner, A. H. van Der Hout, C. D. de Kroon, T. van Wezel, L. P. Berger, M. Jalving, J. Wesseling, V. T. H. B. M. Smit, G. H. de Bock, C. J. van Asperen, M. J. E. Mourits, M. P. G. Vreeswijk, J. Bart, T. Bosse
Summary: This study analyzed the causal BRCA1/2 gene variants in different types of ovarian cancer tissues. The results showed that except for high-grade serous ovarian carcinoma, there were minimal BRCA1/2 PVs in other types of ovarian cancer. The study also identified some potentially misdiagnosed cases and conducted in-depth analysis of the pathogenic mechanism of BRCA1/2 variants. These findings suggest that histotype-directed sequencing may be more informative than universal sequencing.
JOURNAL OF PATHOLOGY
(2023)
Article
Multidisciplinary Sciences
Ashley Solmonson, Brandon Faubert, Wen Gu, Aparna Rao, Mitzy A. Cowdin, Ivan Menendez-Montes, Sherwin Kelekar, Thomas J. Rogers, Chunxiao Pan, Gerardo Guevara, Amy Tarangelo, Lauren G. Zacharias, Misty S. Martin-Sandoval, Duyen Do, Panayotis Pachnis, Dennis Dumesnil, Thomas P. Mathews, Alpaslan Tasdogan, An Pham, Ling Cai, Zhiyu Zhao, Min Ni, Ondine Cleaver, Hesham A. Sadek, Sean J. Morrison, Ralph J. DeBerardinis
Summary: This study investigated the metabolic changes in the placenta and embryo during midgestation in mice, identifying differences between the tissues and the contribution of glucose to the tricarboxylic acid (TCA) cycle. The deficiency of LIPT1, an enzyme related to the TCA cycle, disrupted metabolism and led to developmental anomalies and embryonic demise.
Article
Multidisciplinary Sciences
Ji-Eun See, Ha Rim Shin, Gayoung Jang, Jiyeon Kweon, Yongsub Kim
Summary: This study presents a new method for functional analysis of BRCA1 variants using CRISPR-mediated cytosine base editor, overcoming issues related to overexpression and post-transcriptional regulation. The researchers identified ambiguous BRCA1 variants and demonstrated the effectiveness of CRISPR-mediated base editors in reclassifying variants of uncertain significance.
JOVE-JOURNAL OF VISUALIZED EXPERIMENTS
(2021)
Article
Surgery
Ciara Hegarty, Cathy Breen, Naomi M. Fearon, Helen M. Heneghan, Neil G. Docherty, Nana Gletsu Miller
Summary: The study retrospectively reviewed the iron status of bariatric surgery candidates in Ireland, finding a significant prevalence of functional iron deficiency associated with anemia. These findings raise questions about optimizing preoperative iron status in patients with severe obesity.
SURGERY FOR OBESITY AND RELATED DISEASES
(2021)
Article
Multidisciplinary Sciences
Gray Umbach, Ryan Tan, Joshua Jacobs, Brad E. Pfeiffer, Bradley Lega
Summary: This study identifies neuronal assemblies in the human MTL and demonstrates their consistent organization based on gamma phase information. The findings suggest the involvement of neuronal assemblies in human episodic memory and their ability to flexibly adjust based on memory performance.
NATURE COMMUNICATIONS
(2022)
Article
Engineering, Chemical
Rita Carapito, Sandra C. Bernardo, Matheus M. Pereira, Marcia C. Neves, Mara G. Freire, Fani Sousa
Summary: Nucleic acids, especially RNA, have been explored as potential biopharmaceuticals for gene therapy. However, their labile nature poses challenges in their production and purification. This study investigates the use of chromatographic silica-based supports functionalized with ionic liquids for RNA purification. The results show promising potential for the development of a more efficient and safer method for RNA isolation.
SEPARATION AND PURIFICATION TECHNOLOGY
(2023)
Article
Chemistry, Medicinal
Sven Jirschitzka, Daniel Laengle, Hendrik Lueck, Dennis Schade, Thomas Kunze
Summary: The study found that the ready-to-use infusion solution and undiluted Perjeta (Pertuzumab) concentrate were stable and effective for up to 28 days when stored at both room temperature and low temperature.
ARCHIV DER PHARMAZIE
(2023)
Article
Genetics & Heredity
Aleksandra Adamovich, Mariame Diabate, Tapahsama Banerjee, Gregory Nagy, Nahum Smith, Kathryn Duncan, Erika Mendoza Mendoza, Gisselle Prida, Michael A. Freitas, Lea M. Starita, Jeffrey D. Parvin
Summary: Pathogenic variants in BRCA1 are associated with an increased risk of hereditary breast and ovarian cancer. This study used functional assays to evaluate a large number of BRCA1 variants, finding consistent results in terms of repair function and drug resistance. These results are valuable for characterizing variants that are individually detected too infrequently in the population.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Pathology
Kay Weng Choy, Gorkem Sezgin, Nilika Wijeratne, John Calleja, Rachelle Liwayan, Geetha Rathnayake, Robert McFarlane, Alan McNeil, James C. G. Doery, Zhong Lu, Corey Markus, Tze Ping Loh
Summary: This study evaluated the analytical bias of five widely used commercial ferritin assays in Australia and derived functional reference limits for Siemens, Abbott, and Ortho methods. The results showed significant biases among different assays, which may affect the accuracy of ferritin measurements. More research is needed to address the commutability issues between these methods.
Article
Multidisciplinary Sciences
Thales C. Nepomuceno, Ana P. P. dos Santos, Vanessa C. Fernandes, Anna B. R. Elias, Thiago T. Gomes, Guilherme Suarez-Kurtz, Edwin S. Iversen, Fergus J. Couch, Alvaro N. A. Monteiro, Marcelo A. Carvalho
Summary: This study systematically evaluated the impact of in-frame indels located at the C-terminal region of BRCA1, and identified positions sensitive and tolerant to alterations. The study also highlighted the importance of assessing the impact of small in-frame indels in BRCA1 using a Bayesian integrative statistical model to improve risk assessment and clinical decisions for carriers.
SCIENTIFIC REPORTS
(2022)
Article
Genetics & Heredity
Kathleen A. Clark, Andrew Paquette, Kayoko Tao, Russell Bell, Julie L. Boyle, Judith Rosenthal, Angela K. Snow, Alex W. Stark, Bryony A. Thompson, Joshua Unger, Jason Gertz, Katherine E. Varley, Kenneth M. Boucher, David E. Goldgar, William D. Foulkes, Alun Thomas, Sean Tavtigian
Summary: BRCA1 is a high-risk susceptibility gene for breast and ovarian cancer. This study focuses on the pathogenicity of missense substitutions in the RING domain of BRCA1. Through experimental assays and data integration, the researchers achieved clinical classification of observed missense substitutions and identified additional potential pathogenic and benign missense substitutions.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Engineering, Mechanical
Alexander R. Murphy, Henry D. Banks, Robert L. Nagel, Julie S. Linsey
Summary: Understanding the formulation and evolution of mental models in engineering can lead to the development of materials that support systems thinking. This study measured the changes in engineering students' mental models before and after learning functional modeling, compared to students who did not learn it. The results showed significant improvements in mental model representations for two of the three systems after the functional modeling intervention. Additionally, participants with prior experience disassembling the product had higher mental model scores. These findings suggest that functional modeling enhances knowledge communication, retrieval, and interpretation of engineered systems.
JOURNAL OF MECHANICAL DESIGN
(2023)
Review
Oncology
Fabienne Lesueur, Douglas F. Easton, Anne-Laure Renault, Sean Tavtigian, Jonine L. Bernstein, Zsofia Kote-Jarai, Rosalind A. Eeles, Dijana Plaseska-Karanfia, Lidia Feliubadalo, Banu Arun, Natalie Herold, Beatrix Versmold, Rita Katharina Schmutzler, Tu Nguyen-Dumont, Melissa C. Southey, Leila Dorling, Alison M. Dunning, Paola Ghiorzo, Bruna Samia Dalmasso, Eve Cavaciuti, Dorothee Le Gal, Nicholas J. Roberts, Mev Dominguez-Valentin, Matti Rookus, Alexander M. R. Taylor, Alisa M. Goldstein, David E. Goldgar, Dominique Stoppa-Lyonnet, Nadine Andrieu
Summary: The first International Workshop of the ATM and Cancer Risk group focused on the role of ATM gene in cancer, emphasizing the lack of consensus on management guidelines for ATM variant carriers. The meeting aimed to review current knowledge and challenges related to ATM and cancer risk, highlighting the importance of accurate variant classification and the need for large-scale international studies to benefit ATM variant carriers outside the context of Ataxia-Telangiectasia.
Article
Health Care Sciences & Services
Lydia E. Pace, Nadine Tung, Yeonsoo S. Lee, Jada G. Hamilton, Camila Gabriel, Anna Revette, Sahitya Raja, Colby Jenkins, Anthony Braswell, Kelly Morgan, Jeffrey Levin, Jeremy Block, Susan M. Domchek, Katherine Nathanson, Heather Symecko, Kelsey Spielman, Beth Karlan, Daniella Kamara, Jenny Lester, Kenneth Offit, Judy E. Garber, Nancy L. Keating
Summary: Most PCPs declined to disclose their patients' BFOR results, although survey respondents were motivated and had positive disclosure experiences. PCP training and integrated decision support could be beneficial.
JOURNAL OF GENERAL INTERNAL MEDICINE
(2022)
Letter
Oncology
Tristan L. Lim, David B. Lieberman, Adam R. Davis, Alison W. Loren, Ryan Hausler, Ashkan Bigdeli, Yimei Li, Jacquelyn Powers, Anna Raper, Shannon A. Carty, Katherine L. Nathanson, Adam Bagg, Elizabeth O. Hexner, Kara N. Maxwell, Jennifer J. D. Morrissette, Daria V. Babushok
Article
Dermatology
Ronald Berna, Nandita Mitra, Ole Hoffstad, Bradley Wubbenhorst, Katherine L. Nathanson, David J. Margolis
Summary: This study evaluated the association between variation in FLG2, TCHHL1 genes and atopic dermatitis (AD) remission. The results showed that uncommon alleles in FLG2 and TCHHL1 were associated with increased AD remission in both white and African American populations, supporting the role of these genes in AD pathogenesis.
ARCHIVES OF DERMATOLOGICAL RESEARCH
(2022)
Article
Pharmacology & Pharmacy
Pablo Garcia-Molina, Alberto Sola-Leyva, Pilar M. Luque-Navarro, Alejandro Laso, Pablo Rios-Marco, Antonio Rios, Daniela Lanari, Archimede Torretta, Emilio Parisini, Luisa C. Lopez-Cara, Carmen Marco, Maria P. Carrasco-Jimenez
Summary: The overexpression of Choline Kinase alpha 1 (ChoK alpha 1) has been associated with cell proliferation, oncogenic transformation, and carcinogenesis, making it a potential target in cancer therapy. Additionally, the choline transporter CTL1 is highly expressed in tumor cell lines. Inhibition of both choline uptake and ChoK alpha 1 activity has been shown to correlate with reduced cell proliferation in cancer cell lines, suggesting both proteins as potential targets for cancer therapy.
Article
Biochemistry & Molecular Biology
Francesca Belle, Alberto Mercatanti, Samuele Lodovichi, Caterina Congregati, Chiara Guglielmi, Mariella Tancredi, Maria Adelaide Caligo, Tiziana Cervelli, Alvaro Galli
Summary: This study developed a method called yBRCA1, which integrates data from homologous recombination, gene reversion, and small colony phenotype assays to accurately classify variants of the BRCA1 gene as benign or pathogenic, providing a new tool for assessing the risk of breast and ovarian cancer.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Pharmacology & Pharmacy
Pilar Maria Luque-Navarro, Elena Mariotto, Marco Ballarotto, Gianluca Rubbini, Francisco Jose Aguilar-Troyano, Alberto Fasiolo, Archimede Torretta, Emilio Parisini, Antonio Macchiarulo, Alejandro Laso, Carmen Marco, Giampietro Viola, Maria Paz Carrasco-Jimenez, Luisa Carlota Lopez-Cara
Summary: This study presents a series of compounds designed based on a known strategy. Some of these compounds show improved enzyme inhibition and antiproliferative effects, with Ff-35 being the most promising compound that inhibits the growth of different tumor cells and induces cell cycle arrest and apoptosis.
Article
Genetics & Heredity
Kara N. Maxwell, Vishal Patel, Kevin T. Nead, Shana Merrill, Dana Clark, Qinqin Jiang, Bradley Wubbenhorst, Kurt D'Andrea, Roger B. Cohen, Susan M. Domchek, Jennifer J. D. Morrissette, Roger A. Greenberg, Daria Babushok, Katherine L. Nathanson
Summary: Inherited biallelic pathogenic variants (PVs) in BRCA2 can cause Fanconi Anemia complementation group D1 (FA-D1). Our study identified a case where the individual with biallelic BRCA2 PVs did not have bone marrow failure but developed multiple cancers. This expands the clinical spectrum of FA-D1 and emphasizes the importance of early recognition of this syndrome in families.
Article
Oncology
Sami Belhadj, Aliya Khurram, Chaitanya Bandlamudi, Guillermo Palou-Marquez, Vignesh Ravichandran, Zoe Steinsnyder, Temima Wildman, Amanda Catchings, Yelena Kemel, Semanti Mukherjee, Benjamin Fesko, Kanika Arora, Miika Mehine, Sita Dandiker, Aalin Izhar, John Petrini, Susan Domchek, Katherine L. Nathanson, Jamie Brower, Fergus Couch, Zsofia Stadler, Mark Robson, Michael Walsh, Joseph Vijai, Michael Berger, Fran Supek, Rachid Karam, Sabine Topka, Kenneth Offit
Summary: Through sequencing analysis of matched germline and somatic DNA samples from 34,046 patients, 32 pathogenic variants of NBN were identified. Patients carrying these variants showed increased loss of wild-type allele in lung and pancreatic tumors. Functional studies confirmed the important role of NBN in a broad spectrum of cancers.
CLINICAL CANCER RESEARCH
(2023)
Article
Health Care Sciences & Services
Anurag Verma, Scott M. Damrauer, Nawar Naseer, JoEllen Weaver, Colleen M. Kripke, Lindsay Guare, Giorgio Sirugo, Rachel L. Kember, Theodore G. Drivas, Scott M. Dudek, Yuki Bradford, Anastasia Lucas, Renae Judy, Shefali S. Verma, Emma Meagher, Katherine L. Nathanson, Michael Feldman, Marylyn D. Ritchie, Daniel J. Rader
Summary: The Penn Medicine BioBank is an EHR-linked biobank that integrates a variety of health information with genomic data, making it one of the most diverse medical biobanks. Its significance lies in expanding diversity in genetic and translational research, and its potential for biological discovery and precision medicine.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Oncology
Lenka Stolarova, Petra Kleiblova, Petra Zemankova, Barbora Stastna, Marketa Janatova, Jana Soukupova, Maria Isabel Achatz, Christine Ambrosone, Paraskevi Apostolou, Banu K. Arun, Paul Auer, Mollie Barnard, Birgitte Bertelsen, Biobank Japan, Marinus J. Blok, Nicholas Boddicker, Joan Brunet, Elizabeth S. Burnside, Mariarosaria Calvello, Ian Campbell, Sock Hoai Chan, Fei Chen, Jian Bang Chiang, Anna Coppa, Laura Cortesi, Ana Crujeiras-Gonzalez, Consortium Czecanca, Kim De Leeneer, Robin De Putter, Allison DePersia, Lisa Devereux, Susan Domchek, Anna Efremidis, Christoph Engel, Corinna Ernst, D. Gareth R. Evans, Lidia Feliubadalo, Florentia Fostira, Olivia Fuentes-Rios, Encarna B. Gomez-Garcia, Sara Gonzalez, Christopher Haiman, Thomas van Overeem Hansen, Jan Hauke, James Hodge, Chunling Hu, Hongyan Huang, Nur Diana Binte Ishak, Yusuke Iwasaki, Irene Konstantopoulou, Peter Kraft, James Lacey, Conxi Lazaro, Na Li, Weng Khong Lim, Sara Lindstrom, Adriana Lori, Elana Martinez, Alexandra Martins, Koichi Matsuda, Giuseppe Matullo, Simone McInerny, Kyriaki Michailidou, Marco Montagna, Alvaro N. A. Monteiro, Luigi Mori, Katherine Nathanson, Susan L. Neuhausen, Heli Nevanlinna, Janet E. Olson, Julie Palmer, Barbara Pasini, Alpa Patel, Maria Piane, Bruce Poppe, Paolo Radice, Alessandra Renieri, Nicoletta Resta, Marcy E. Richardson, Toon Rosseel, Kathryn J. Ruddy, Marta Santamarina, Elizabeth Santana Dos Santos, Lauren Teras, Amanda E. Toland, Amy Trentham-Dietz, Celine M. Vachon, Alexander E. Volk, Nana Weber-Lassalle, Jeffrey N. Weitzel, Lisa Wiesmuller, Stacey Winham, Siddhartha Yadav, Drakoulis Yannoukakos, Song Yao, Valentina Zampiga, Magnus Zethoven, Ze Wen Zhang, Tomas Zima, Amanda B. Spurdle, Vega Ana, Maria Rossing, Jesus Del Valle, Arcangela De Nicolo, Eric Hahnen, Kathleen B. M. Claes, Joanne Ngeow, Yukihide Momozawa, Paul A. James, Fergus J. Couch, Libor Macurek, Zdenek Kleibl
Summary: This study determined the functional consequences of CHEK2 missense variants in patients with breast cancer. The study found that carriers of functionally impaired variants were associated with a moderate risk, while carriers of functionally wild-type/intermediate variants had no clinically relevant breast cancer risk.
CLINICAL CANCER RESEARCH
(2023)
Article
Genetics & Heredity
Veronica Bertini, Fulvia Baldinotti, Pietro Parma, Nina Tyutyusheva, Margherita Sepich, Giulia Bertolucci, Camillo Rosano, Maria Adelaide Caligo, Diego Peroni, Angelo Valetto, Silvano Bertelloni
Summary: Disorders of sexual development (DSDs) are a group of congenital conditions associated with atypical development of internal and external genital structures. This study describes a case of an SRY-negative 46,XX male with a heterozygous de novo tandem duplication involving the DMRT1 gene, which may explain the normal male phenotype of this individual.
Article
Oncology
Adam A. Kraya, Kara N. Maxwell, Monika A. Eiva, Bradley Wubbenhorst, John Pluta, Michael Feldman, Anupma Nayak, Daniel J. Powell, Susan M. Domchek, Robert H. Vonderheide, Katherine L. Nathanson
Summary: This study aimed to understand the relationship between immunogenicity and genomic features in BRCA1/2 mutation-associated cancers. The results found two subsets of ovarian cancers with BRCA1/2 mutations exhibiting differential immunogenicity, with lower levels associated with PTEN loss and BRCA hypermethylation. These findings provide insights into the optimal use of immune checkpoint inhibitors in the clinic.
JCO PRECISION ONCOLOGY
(2022)
Article
Oncology
Daniel R. Barnes, Valentina Silvestri, Goska Leslie, Lesley McGuffog, Joe Dennis, Xin Yang, Julian Adlard, Bjarni A. Agnarsson, Munaza Ahmed, Kristiina Aittomaki, Irene L. Andrulis, Adalgeir Arason, Norbert Arnold, Bernd Auber, Jacopo Azzollini, Judith Balmana, Rosa B. Barkardottir, Daniel Barrowdale, Julian Barwell, Muriel Belotti, Javier Benitez, Pascaline Berthet, Susanne E. Boonen, Ake Borg, Aniko Bozsik, Angela F. Brady, Paul Brennan, Carole Brewer, Joan Brunet, Agostino Bucalo, Saundra S. Buys, Trinidad Caldes, Maria A. Caligo, Ian Campbell, Hayley Cassingham, Lise Lotte Christensen, Giulia Cini, Kathleen B. M. Claes, Jackie Cook, Anna Coppa, Laura Cortesi, Giuseppe Damante, Esther Darder, Rosemarie Davidson, Miguel de la Hoya, Kim De Leeneer, Robin de Putter, Jesus Del Valle, Orland Diez, Yuan Chun Ding, Susan M. Domchek, Alan Donaldson, Jacqueline Eason, Ros Eeles, Christoph Engel, D. Gareth Evans, Lidia Feliubadalo, Florentia Fostira, Megan Frone, Debra Frost, David Gallagher, Andrea Gehrig, Sophie Giraud, Gord Glendon, Andrew K. Godwin, David E. Goldgar, Mark H. Greene, Helen Gregory, Eva Gross, Eric Hahnen, Ute Hamann, Thomas V. O. Hansen, Helen Hanson, Julia Hentschel, Judit Horvath, Louise Izatt, Angel Izquierdo, Paul A. James, Ramunas Janavicius, Uffe Birk Jensen, Oskar Th Johannsson, Esther M. John, Gero Kramer, Lone Kroeldrup, Torben A. Kruse, Charlotte Lautrup, Conxi Lazaro, Fabienne Lesueur, Adria Lopez-Fernandez, Phuong L. Mai, Siranoush Manoukian, Zoltan Matrai, Laura Matricardi, Kara N. Maxwell, Noura Mebirouk, Alfons Meindl, Marco Montagna, Alvaro N. Monteiro, Patrick J. Morrison, Taru A. Muranen, Alex Murray, Katherine L. Nathanson, Susan L. Neuhausen, Heli Nevanlinna, Tu Nguyen-Dumont, Dieter Niederacher, Edith Olah, Olufunmilayo Olopade, Domenico Palli, Michael T. Parsons, Inge Sokilde Pedersen, Bernard Peissel, Pedro Perez-Segura, Paolo Peterlongo, Annabeth H. Petersen, Pedro Pinto, Mary E. Porteous, Caroline Pottinger, Miquel Angel Pujana, Paolo Radice, Juliane Ramser, Johanna Rantala, Mark Robson, Mark T. Rogers, Karina Ronlund, Andreas Rump, Ana Maria Sanchez de Abajo, Payal D. Shah, Saba Sharif, Lucy E. Side, Christian F. Singer, Zsofia Stadler, Linda Steele, Dominique Stoppa-Lyonnet, Christian Sutter, Yen Yen Tan, Manuel R. Teixeira, Alex Teule, Darcy L. Thull, Marc Tischkowitz, Amanda E. Toland, Stefania Tommasi, Angela Toss, Alison H. Trainer, Vishakha Tripathi, Virginia Valentini, Christi J. van Asperen, Marta Venturelli, Alessandra Viel, Joseph Vijai, Lisa Walker, Shan Wang-Gohrke, Barbara Wappenschmidt, Anna Whaite, Ines Zanna, Kenneth Offit, Mads Thomassen, Fergus J. Couch, Rita K. Schmutzler, Jacques Simard, Douglas F. Easton, Georgia Chenevix-Trench, Antonis C. Antoniou, Laura Ottini
Summary: The study assessed the associations of polygenic risk scores with breast and prostate cancer risks for male BRCA1 and BRCA2 carriers, finding strong associations between the risk scores and the respective cancer risks. The estimated breast cancer odds ratios were larger after adjusting for family history of female relative breast cancer.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2022)
Correction
Multidisciplinary Sciences
Hua Sun, Song Cao, R. Jay Mashl, Chia-Kuei Mo, Simone Zaccaria, Michael C. Wendl, Sherri R. Davies, Matthew H. Bailey, Tina M. Primeau, Jeremy Hoog, Jacqueline L. Mudd, Dennis A. Dean, Rajesh Patidar, Li Chen, Matthew A. Wyczalkowski, Reyka G. Jayasinghe, Fernanda Martins Rodrigues, Nadezhda V. Terekhanova, Yize Li, Kian-Huat Lim, Andrea Wang-Gillam, Brian A. Van Tine, Cynthia X. Ma, Rebecca Aft, Katherine C. Fuh, Julie K. Schwarz, Jose P. Zevallos, Sidharth V. Puram, John F. Dipersio, Brandi Davis-Dusenbery, Matthew J. Ellis, Michael T. Lewis, Michael A. Davies, Meenhard Herlyn, Bingliang Fang, Jack A. Roth, Alana L. Welm, Bryan E. Welm, Funda Meric-Bernstam, Feng Chen, Ryan C. Fields, Shunqiang Li, Ramaswamy Govindan, James H. Doroshow, Jeffrey A. Moscow, Yvonne A. Evrard, Jeffrey H. Chuang, Benjamin J. Raphael, Li Ding
NATURE COMMUNICATIONS
(2022)