Article
Reproductive Biology
A. W. Adamson, Y. C. Ding, L. Steele, L. A. Leong, R. Morgan, M. T. Wakabayashi, E. S. Han, T. H. Dellinger, P. S. Lin, A. A. Hakim, S. Wilczynski, C. D. Warden, S. Tao, V. Bedell, M. C. Cristea, S. L. Neuhausen
Summary: This study investigated genetic alterations in high-grade serous ovarian cancers (HGSCs) and found that about one-third of tumors had genetic variants associated with DNA damage and PI3K/AKT/mTOR pathways. These variants were associated with relapse-free and overall survival.
JOURNAL OF OVARIAN RESEARCH
(2023)
Article
Genetics & Heredity
Nikki L. Burdett, Madelynne O. Willis, Kathryn Alsop, Allison L. Hunt, Ahwan Pandey, Phineas T. Hamilton, Tamara Abulez, Xuan Liu, Therese Hoang, Stuart Craig, Sian Fereday, Joy Hendley, Dale W. Garsed, Katy Milne, Shreena Kalaria, Ashley Marshall, Brian L. Hood, Katlin N. Wilson, Kelly A. Conrads, Kathleen Pishas, Sumitra Ananda, Clare L. Scott, Yoland Antill, Orla McNally, Linda Mileshkin, Anne Hamilton, George Au-Yeung, Lisa Devereux, Heather Thorne, Andrea Bild, Nicholas W. Bateman, G. Larry Maxwell, Jeffrey T. Chang, Thomas P. P. Conrads, Brad H. Nelson, David D. L. Bowtell, Elizabeth L. L. Christie
Summary: A multiomics approach was used to study molecular diversity in end-stage HR-deficient HGSC, revealing polyclonal disease, resistance mechanisms such as reversion mutations and HR restoration, whole-genome duplication, and global changes in immune composition with evidence of immune escape.
Article
Oncology
Sanna Pikkusaari, Manuela Tumiati, Anni Virtanen, Jaana Oikkonen, Yilin Li, Fernando Perez-Villatoro, Taru Muranen, Matilda Salko, Kaisa Huhtinen, Anna Kanerva, Heidi Koskela, Johanna Tapper, Riitta Koivisto-Korander, Titta Joutsiniemi, Ulla-Maija Haltia, Heini Lassus, Sampsa Hautaniemi, Anniina Farkkila, Johanna Hynninen, Sakari Hietanen, Olli Carpen, Liisa Kauppi
Summary: A clinically feasible assay was developed to identify HR-deficient tumors in high-grade serous ovarian cancers. The assay predicted clinical outcomes and helped determine which patients were most likely to benefit from platinum-based chemotherapy and PARP inhibitors.
CLINICAL CANCER RESEARCH
(2023)
Article
Multidisciplinary Sciences
Kuan-lin Huang, Adam D. Scott, Daniel Cui Zhou, Liang-Bo Wang, Amila Weerasinghe, Abdulkadir Elmas, Ruiyang Liu, Yige Wu, Michael C. Wendl, Matthew A. Wyczalkowski, Jessika Baral, Sohini Sengupta, Chin-Wen Lai, Kelly Ruggles, Samuel H. Payne, Benjamin Raphael, David Fenyo, Ken Chen, Gordon Mills, Li Ding
Summary: Advances in mass-spectrometry have led to the generation of large-scale proteomics datasets containing tens of thousands of phosphorylation sites. Using a bioinformatics tool called HotPho, researchers identified 474 hybrid clusters of phosphosites and cancer mutations on protein structures, highlighting nearly 3,000 likely functional mutations and over 1,000 cancer phosphosites for potential clinical relevance.
NATURE COMMUNICATIONS
(2021)
Review
Oncology
Kerryn Elliott, Erik Larsson
Summary: Despite the vast size of the non-coding genome, driver mutations in this space appear to be relatively infrequent. The transition towards whole-genome analysis is enabling the discovery of potential driver mutations outside protein-coding sequences, but detecting selection signals in non-coding DNA remains challenging.
NATURE REVIEWS CANCER
(2021)
Article
Reproductive Biology
Takafumi Watanabe, Hideaki Nanamiya, Yuta Endo, Manabu Kojima, Shinji Nomura, Shigenori Furukawa, Shu Soeda, Hirosumi Tamura, Masae Ryufuku, Daisuke Tanaka, Takao Isogai, Jun-ichi Imai, Shinya Watanabe, Keiya Fujimori
Summary: The study aimed to comprehensively analyze mutational profiling in EOC patients and investigate the association between somatic mutations and clinicopathological characteristics. Validated mutations were detected in 82.5% of tumors, with TP53, PIK3CA, KRAS, PTEN, and CTNNB1 being the most frequently mutated genes. Mutations in PTEN and CTNNB1 were associated with younger age, while PIK3CA1, KRAS, and CTNNB1 mutations were observed in early-stage EOC. TP53 mutations were more common in advanced stage EOC. Significant associations were found between mutations and specific subtypes of EOC, with PIK3CA and KRAS mutations associated with favorable progression free survival (PFS). Mutations only in TP53 were associated with worse PFS. The study's molecular profiling may potentially be used for novel stratification within histological subtypes of EOC, with further research needed for improved clinical outcomes and treatment.
JOURNAL OF OVARIAN RESEARCH
(2021)
Review
Oncology
Nobuyuki Kakiuchi, Seishi Ogawa
Summary: Clonal expansion in phenotypically normal or non-cancer tissues is commonly associated with aging, environmental insults, and chronic inflammation, but it does not necessarily indicate cancer development. This review discusses recent findings on clonal expansion in these tissues and their biological significance in cancer development, aging, and inflammatory diseases.
NATURE REVIEWS CANCER
(2021)
Article
Chemistry, Medicinal
Yagmur Sisman, Lau Kraesing Vestergaard, Douglas Nogueira Perez de Oliveira, Tim Svenstrup Poulsen, Tine Henrichsen Schnack, Claus Hogdall, Estrid Hogdall
Summary: This study analyzed the mutational profile of 128 Danish patients with high-grade serous ovarian cancer and found PARP inhibitors to be the most frequent potential targeted therapy, while indicating the relevance of investigating other targeted therapies based on mutational findings.
Review
Biochemistry & Molecular Biology
Qiuxia Wang, Jianguo Feng, Liling Tang
Summary: Advancements in high-throughput sequencing and chromatin state mapping have revealed the production of non-coding transcripts/RNAs in eukaryotic cells. Some of these non-coding RNAs have been strongly associated with the development of cancer. The mitogen-activated protein kinases (MAPK) are a family of serine-threonine kinases that play a crucial role in cell signaling from the cell surface to the nucleus. Certain non-coding RNAs associated with the MAPK signaling pathway have been found to play significant roles in the development of various malignancies, including liver cancer.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Reproductive Biology
Anam Beg, Rafat Parveen, Hassan Fouad, M. E. Yahia, Azza S. Hassanein
Summary: This review highlights the role of different non-coding RNAs as potential biomarkers in the diagnosis of ovarian cancer. It summarizes the expression and clinical features of a few miRNAs involved in epithelial ovarian cancer. Additionally, the abnormal expression of piRNAs has been found to play a crucial regulatory role in cancer cell proliferation, apoptosis, invasion, and migration, while tRFs and tiRNAs hold promise as diagnostic biomarkers and therapeutic targets for cancer.
JOURNAL OF OVARIAN RESEARCH
(2022)
Article
Multidisciplinary Sciences
Ali Reza Ebadi, Ali Soleimani, Abdulbaghi Ghaderzadeh
Summary: The study introduces a new method to extract driver genes more accurately through subspace learning and unsupervised learning, showing higher predictive accuracy. By comparing p-value overlap and new driver genes, the method outperforms in identifying driver genes in cancer tumors.
SCIENTIFIC REPORTS
(2021)
Article
Multidisciplinary Sciences
Yujiro Hayashi, Kazutoshi Fujita, Kazuko Sakai, Shogo Adomi, Eri Banno, Satoshi Nojima, Eisuke Tomiyama, Makoto Matsushita, Taigo Kato, Koji Hatano, Atsunari Kawashima, Takafumi Minami, Eiichi Morii, Hirotsugu Uemura, Kazuto Nishio, Norio Nonomura
Summary: During tumorigenesis, certain tissues are colonized by mutant clones with oncogenic driver mutations, which can facilitate clonal expansion and contribute to malignant transformation. The somatic mutation patterns in the precancer urothelium of patients with bladder cancer were investigated, and characteristic mutations were identified in normal urothelium that likely affect clonal expansion during malignant transformation of non-muscle invasive bladder cancer (NMIBC).
SCIENTIFIC REPORTS
(2022)
Article
Oncology
Angelina S. Bortoletto, Ronald J. Parchem
Summary: Extensive studies have shown that misregulation of individual miRNAs is associated with cancer. Recently, it has been discovered that mutations in the miRNA biogenesis and processing machinery are also involved in several malignancies. These mutations can cause global miRNA misregulation and contribute to cancer development. Additionally, it has been found that mutant KRAS can affect the activity of miRNA regulatory pathway members, further promoting tumorigenesis. Targeting both mutant KRAS and the miRNA core machinery may present a potential strategy for cancer treatment.
Article
Oncology
Amanda J. Compadre, Lillian N. van Biljon, Mark C. Valentine, Alba Llop-Guevara, Emily Graham, Bisiayo Fashemi, Andrea Herencia-Ropero, Emilee N. Kotnik, Isaac Cooper, Shariska P. Harrington, Lindsay M. Kuroki, Carolyn K. McCourt, Andrea R. Hagemann, Premal H. Thaker, David G. Mutch, Matthew A. Powell, Lulu Sun, Nima Mosammaparast, Violeta Serra, Peinan Zhao, Elena Lomonosova, Dineo Khabele, Mary M. Mullen
Summary: The study determined the ability of RAD51 foci to predict platinum chemotherapy response in high-grade serous ovarian cancer (HGSOC) patient-derived samples. The RAD51 scores correlated with in vitro response to platinum chemotherapy and organoids from platinum-nonresponsive tumors had higher RAD51 scores. RAD51-Low tumors were more likely to have a pathologic complete response and be platinum-sensitive. RAD51 foci are a robust marker of platinum chemotherapy response and survival in ovarian cancer.
CLINICAL CANCER RESEARCH
(2023)
Review
Cell Biology
Toshihiko Takeiwa, Kazuhiro Ikeda, Kuniko Horie-Inoue, Satoshi Inoue
Summary: Ovarian cancer is a health-threatening malignancy of the ovary in the female reproductive system, often diagnosed at advanced stages with poor prognosis. Recent studies have shown that some lncRNAs play roles in apoptosis of ovarian cancer cells, potentially serving as promising new targets in therapy.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Eileen O. Dareng, Jonathan P. Tyrer, Daniel R. Barnes, Michelle R. Jones, Xin Yang, Katja K. H. Aben, Muriel A. Adank, Simona Agata, Irene L. Andrulis, Hoda Anton-Culver, Natalia N. Antonenkova, Gerasimos Aravantinos, Banu K. Arun, Annelie Augustinsson, Judith Balmana, Elisa Bandera, Rosa B. Barkardottir, Daniel Barrowdale, Matthias W. Beckmann, Alicia Beeghly-Fadiel, Javier Benitez, Marina Bermisheva, Marcus Q. Bernardini, Line Bjorge, Amanda Black, Natalia Bogdanova, Bernardo Bonanni, Ake Borg, James D. Brenton, Agnieszka Budzilowska, Ralf Butzow, Saundra S. Buys, Hui Cai, Maria A. Caligo, Ian Campbell, Rikki Cannioto, Hayley Cassingham, Jenny Chang-Claude, Stephen J. Chanock, Kexin Chen, Yoke-Eng Chiew, Wendy K. Chung, Kathleen B. M. Claes, Sarah Colonna, Linda S. Cook, Fergus J. Couch, Mary B. Daly, Fanny Dao, Eleanor Davies, Miguel de la Hoya, Robin de Putter, Joe Dennis, Allison DePersia, Peter Devilee, Orland Diez, Yuan Chun Ding, Jennifer A. Doherty, Susan M. Domchek, Thilo Dork, Andreas du Bois, Matthias Durst, Diana M. Eccles, Heather A. Eliassen, Christoph Engel, Gareth D. Evans, Peter A. Fasching, James M. Flanagan, ReneeT Fortner, Eva Machackova, Eitan Friedman, Patricia A. Ganz, Judy Garber, Francesca Gensini, Graham G. Giles, Gord Glendon, Andrew K. Godwin, Marc T. Goodman, Mark H. Greene, Jacek Gronwald, Opal Study Group, AOCSGroup, Eric Hahnen, Christopher A. Haiman, Niclas Hakansson, Ute Hamann, Thomas V. O. Hansen, Holly R. Harris, Mikael Hartman, Florian Heitz, Michelle A. T. Hildebrandt, Estrid Hogdall, Claus K. Hogdall, John L. Hopper, Ruea-Yea Huang, Chad Huff, Peter J. Hulick, David G. Huntsman, Evgeny N. Imyanitov, Claudine Isaacs, Anna Jakubowska, Paul A. James, Ramunas Janavicius, Allan Jensen, Oskar Th Johannsson, Esther M. John, Michael E. Jones, Daehee Kang, Beth Y. Karlan, Anthony Karnezis, Linda E. Kelemen, Elza Khusnutdinova, Lambertus A. Kiemeney, Byoung-Gie Kim, Susanne K. Kjaer, Ian Komenaka, Jolanta Kupryjanczyk, Allison W. Kurian, Ava Kwong, Diether Lambrechts, Melissa C. Larson, Conxi Lazaro, Nhu D. Le, Goska Leslie, Jenny Lester, Fabienne Lesueur, Douglas A. Levine, Lian Li, Jingmei Li, Jennifer T. Loud, Karen H. Lu, Phuong L. Mai, Siranoush Manoukian, Jeffrey R. Marks, Rayna KimMatsuno, Keitaro Matsuo, Taymaa May, Lesley McGuffog, John R. McLaughlin, Iain A. McNeish, Noura Mebirouk, Usha Menon, Austin Miller, Roger L. Milne, Albina Minlikeeva, Francesmary Modugno, Marco Montagna, Kirsten B. Moysich, Elizabeth Munro, Katherine L. Nathanson, Susan L. Neuhausen, Heli Nevanlinna, Joanne Ngeow Yuen Yie, Henriette Roed Nielsen, Finn C. Nielsen, Liene Nikitina-Zake, Kunle Odunsi, Kenneth Offit, Edith Olah, Siel Olbrecht, Olufunmilayo Olopade, Sara H. Olson, Hakan Olsson, Ana Osorio, Laura Papi, Sue K. Park, Michael T. Parsons, Harsha Pathak, Inge Sokilde Pedersen, Ana Peixoto, Tanja Pejovic, Pedro Perez-Segura, Jennifer B. Permuth, Beth Peshkin, Paolo Peterlongo, Anna Piskorz, Darya Prokofyeva, Paolo Radice, Johanna Rantala, Marjorie J. Riggan, Harvey A. Risch, Cristina Rodriguez-Antona, Eric Ross, Mary Anne Rossing, Ingo Runnebaum, Dale P. Sandler, Marta Santamarina, Penny Soucy, Rita K. Schmutzler, V. Wendy Setiawan, Kang Shan, Weiva Sieh, Jacques Simard, Christian F. Singer, Anna P. Sokolenko, Honglin Song, Melissa C. Southey, Helen Steed, Dominique Stoppa-Lyonnet, Rebecca Sutphen, Anthony J. Swerdlow, Yen Yen Tan, Manuel R. Teixeira, Soo Hwang Teo, Kathryn L. Terry, Mary BethTerry, Mads Thomassen, Pamela J. Thompson, Liv Cecilie Vestrheim Thomsen, Darcy L. Thull, Marc Tischkowitz, Linda Titus, Amanda E. Toland, Diana Torres, Britton Trabert, Ruth Travis, Nadine Tung, Shelley S. Tworoger, Ellen Valen, Anne M. van Altena, Annemieke H. van der Hout, ElsVan Nieuwenhuysen, Elizabeth J. van Rensburg, Ana Vega, Digna Velez Edwards, Robert A. Vierkant, Frances Wang, Barbara Wappenschmidt, Penelope M. Webb, Clarice R. Weinberg, Jeffrey N. Weitzel, Nicolas Wentzensen, Emily White, Alice S. Whittemore, Stacey J. Winham, Alicja Wolk, Yin-Ling Woo, Anna H. Wu, Li Yan, Drakoulis Yannoukakos, Katia M. Zavaglia, Wei Zheng, Argyrios Ziogas, Kristin K. Zorn, Zdenek Kleibl, Douglas Easton, Kate Lawrenson, Anna DeFazio, Thomas A. Sellers, Susan J. Ramus, Celeste L. Pearce, Alvaro N. Monteiro, Julie Cunningham, Ellen L. Goode, Joellen M. Schildkraut, Andrew Berchuck, Georgia Chenevix-Trench, Simon A. Gayther, Antonis C. Antoniou, Paul D. P. Pharoah
Summary: This study developed polygenic risk score models for risk prediction of epithelial non-mucinous ovarian cancer and validated their predictive value in diverse populations and BRCA1/BRCA2 mutation carriers, suggesting potential clinical utility in ovarian cancer prevention programs.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Meeting Abstract
Oncology
Marla Scott, Robbin Nameki, Forough Abassi, Marcos Abraao De Souza Fonseca, Rosario Corona, Kenneth Kim, Kate Lawrenson
GYNECOLOGIC ONCOLOGY
(2022)
Meeting Abstract
Oncology
Marla Scott, Kate Lawrenson, Kenneth Kim, Kyleigh Strickland, Fabiola Medeiros, Victoria Cerda, Christine Walsh
GYNECOLOGIC ONCOLOGY
(2022)
Article
Pathology
Eun Young Kang, Joshua Millstein, Gordana Popovic, Nicola S. Meagher, Adelyn Bolithon, Aline Talhouk, Derek S. Chiu, Michael S. Anglesio, Betty Leung, Katrina Tang, Neil Lambie, Marina Pavanello, Annalyn Da-Anoy, Diether Lambrechts, Liselore Loverix, Siel Olbrecht, Christiani Bisinotto, Jesus Garcia-Donas, Sergio Ruiz-Llorente, Monica Yague-Fernandez, Robert P. Edwards, Esther Elishaev, Alexander Olawaiye, Sarah Taylor, Beyhan Ataseven, Andreas du Bois, Philipp Harter, Jenny Lester, Claus K. Hogdall, Sebastian M. Armasu, Yajue Huang, Robert A. Vierkant, Chen Wang, Stacey J. Winham, Sabine Heublein, Felix K. F. Kommoss, Daniel W. Cramer, Naoko Sasamoto, Lilian Van-Wagensveld, Maria Lycke, Constantina Mateoiu, Janine Joseph, Malcolm C. Pike, Kunle Odunsi, Chiu-Chen Tseng, Celeste L. Pearce, Sanela Bilic, Thomas P. Conrads, Arndt Hartmann, Alexander Hein, Michael E. Jones, Yee Leung, Matthias W. Beckmann, Matthias Ruebner, Minouk J. Schoemaker, Kathryn L. Terry, Mona A. El-Bahrawy, Penny Coulson, John L. Etter, Katherine LaVigne-Mager, Juergen Andress, Marcel Grube, Anna Fischer, Nina Neudeck, Greg Robertson, Rhonda Farrell, Ellen Barlow, Carmel Quinn, Anusha Hettiaratchi, Yovanni Casablanca, Ramona Erber, Colin J. R. Stewart, Adeline Tan, Yu Yu, Jessica Boros, Alison H. Brand, Paul R. Harnett, Catherine J. Kennedy, Nikilyn Nevins, Terry Morgan, Peter A. Fasching, Ignace Vergote, Anthony J. Swerdlow, Francisco J. Candido Dos Reis, G. Larry Maxwell, Susan L. Neuhausen, Arantzazu Barquin-Garcia, Francesmary Modugno, Kirsten B. Moysich, Philip J. Crowe, Akira Hirasawa, Florian Heitz, Beth Y. Karlan, Ellen L. Goode, Peter Sinn, Hugo M. Horlings, Estrid Hogdall, Karin Sundfeldt, Stefan Kommoss, Annette Staebler, Anna H. Wu, Paul A. Cohen, Anna DeFazio, Cheng-Han Lee, Helen Steed, Nhu D. Le, Simon A. Gayther, Kate Lawrenson, Paul D. P. Pharoah, Gottfried Konecny, Linda S. Cook, Susan J. Ramus, Linda E. Kelemen, Martin Kobel
Summary: MCM3 mRNA and protein expression levels are associated with survival in patients with tubo-ovarian high-grade serous carcinomas (HGSC), showing a correlation between high MCM3 expression and longer overall survival.
Article
Genetics & Heredity
Marcos A. S. Fonseca, Marcela Haro, Kelly N. Wright, Xianzhi Lin, Forough Abbasi, Jennifer Sun, Lourdes Hernandez, Natasha L. Orr, Jooyoon Hong, Yunhee Choi-Kuaea, Horacio M. Maluf, Bonnie L. Balzer, Aaron Fishburn, Ryan Hickey, Ilana Cass, Helen S. Goodridge, Mireille Truong, Yemin Wang, Margareta D. Pisarska, Huy Q. Dinh, Amal EL-Naggar, David G. Huntsman, Michael S. Anglesio, Marc T. Goodman, Fabiola Medeiros, Matthew Siedhoff, Kate Lawrenson
Summary: Endometriosis is a common condition in women that causes chronic pain and infertility. The study found differences in cellular and molecular signatures across different tissue types, suggesting a role for cellular restructuring and transcriptional reprogramming in the disease.
Article
Multidisciplinary Sciences
Amin H. Nassar, Sarah Abou Alaiwi, Sylvan C. Baca, Elio Adib, Rosario I. Corona, Ji-Heui Seo, Marcos A. S. Fonseca, Sandor Spisak, Talal El Zarif, Viktoria Tisza, David A. Braun, Heng Du, Monica He, Abdallah Flaifel, Michel Alchoueiry, Thomas Denize, Sayed G. Matar, Andres Acosta, Sachet Shukla, Yue Hou, John Steinharter, Gabrielle Bouchard, Jacob E. Berchuck, Edward O'Connor, Connor Bell, Pier Vitale Nuzzo, Gwo-Shu Mary Lee, Sabina Signoretti, Michelle S. Hirsch, Mark Pomerantz, Elizabeth Henske, Alexander Gusev, Kate Lawrenson, Toni K. Choueiri, David J. Kwiatkowski, Matthew L. Freedman
Summary: This study explores the epigenome of renal cell carcinoma (RCC) and identifies histology-specific master transcription factors (MTFs). Integration of RCC GWAS risk SNPs with epigenomic data reveals enrichment of risk variants in allelically-imbalanced peaks.
NATURE COMMUNICATIONS
(2023)
Article
Oncology
Ingrid P. Vogelaar, Stephanie Greer, Fan Wang, GiWon Shin, Billy Lau, Yajing Hu, Sigurdis Haraldsdottir, Rocio Alvarez, Dennis Hazelett, Peter Nguyen, Francesca P. Aguirre, Maha Guindi, Andrew Hendifar, Jessica Balcom, Anna Leininger, Beth Fairbank, Hanlee Ji, Megan P. Hitchins
Summary: Lynch syndrome is a hereditary cancer condition caused by mutations in mismatch repair (MMR) genes. Genetic testing often reveals variants of uncertain significance (VUS), making clinical decision-making difficult. In this study, we describe a cancer-affected family with mutations in MSH2 and MSH6, and the functional studies suggest that the MSH6 variant is likely pathogenic. Other cancer-relevant mutations were also found, indicating the importance of offering multi-cancer gene panel testing for accurate genetic diagnosis.
Article
Genetics & Heredity
Mihir Bikhchandani, Farin Amersi, Andrew Hendifar, Alexandra Gangi, Arsen Osipov, Karen Zaghiyan, Katelyn Atkins, May Cho, Francesca Aguirre, Dennis Hazelett, Rocio Alvarez, Lisa Zhou, Megan Hitchins, Jun Gong
Summary: Colon cancer with high microsatellite instability responds well to immunotherapy, especially in cases with POLE mutations. We present a case of a POLE-mutated recurrent colon cancer patient treated with pembrolizumab, which resulted in the clearance of circulating tumor DNA. This suggests that using next-generation sequencing to identify POLE mutations and selecting pembrolizumab may improve disease-free survival in similar patients.
Article
Hematology
Sanam Shahid, Nicholas Ceglia, Jean-Benoit Le Luduec, Andrew Mcpherson, Barbara Spitzer, Theodota Kontopoulos, Viktoria Bojilova, M. Kazim Panjwani, Mikhail Roshal, Sohrab P. Shah, Omar Abdel-Wahab, Benjamin Greenbaum, Katharine C. Hsu
Summary: This study investigated the effects of allo-HCT on AML cells using a novel single-cell proteogenomic approach. The results demonstrated immune-related transcriptional signatures in posttransplant relapses, revealing dysfunction in activated natural killer cells and CD8+ T-cell subsets, as well as an expansion of dysfunctional T cells.
Article
Pathology
Natasha L. Orr, Arianne Albert, Yang Doris Liu, Amy Lum, JooYoon Hong, Catalina L. Ionescu, Janine Senz, Tayyebeh M. Nazeran, Anna F. Lee, Heather Noga, Kate Lawrenson, Catherine Allaire, Christina Williams, Mohamed A. Bedaiwy, Michael S. Anglesio, Paul J. Yong
Summary: Through long-term follow-up and analysis of endometriosis patients, it was found that somatic KRAS mutations were associated with disease severity and surgical difficulty. Patients with KRAS mutations were more likely to have deep infiltrating endometriosis or ovarian endometrioma. These findings contribute to a better understanding of the molecular mechanisms and classification of endometriosis in the future.
JOURNAL OF PATHOLOGY CLINICAL RESEARCH
(2023)
Article
Multidisciplinary Sciences
Sandor Spisak, Viktoria Tisza, Pier Vitale Nuzzo, Ji-Heui Seo, Balint Pataki, Dezso Ribli, Zsofia Sztupinszki, Connor Bell, Mersedeh Rohanizadegan, David R. Stillman, Sarah Abou Alaiwi, Alan B. Bartels, Marton Papp, Anamay Shetty, Forough Abbasi, Xianzhi Lin, Kate Lawrenson, Simon A. Gayther, Mark Pomerantz, Sylvan Baca, Norbert Solymosi, Istvan Csabai, Zoltan Szallasi, Alexander Gusev, Matthew L. Freedman
Summary: This study found that besides single-nucleotide polymorphisms (SNPs), other classes of polymorphisms may also be associated with disease risk. Through epigenome and genome editing, a specific type of multiple nucleotide length polymorphism (MNLP) was identified as the causal variant regulating the levels of a specific transcript. The study also discovered that MNLPs are candidate susceptibility variants at other prostate cancer risk loci. These results suggest the importance of investigating other classes of inherited variation as causal mediators of human traits in genome-wide association studies (GWAS).
NATURE COMMUNICATIONS
(2023)
Correction
Multidisciplinary Sciences
Sandor Spisak, Viktoria Tisza, Pier Vitale Nuzzo, Ji-Heui Seo, Balint Pataki, Dezso Ribli, Zsofia Sztupinszki, Connor Bell, Mersedeh Rohanizadegan, David R. Stillman, Sarah Abou Alaiwi, Alan H. Bartels, Marton Papp, Anamay Shetty, Forough Abbasi, Xianzhi Lin, Kate Lawrenson, Simon A. Gayther, Mark Pomerantz, Sylvan Baca, Norbert Solymosi, Istvan Csabai, Zoltan Szallasi, Alexander Gusev, Matthew L. Freedman
NATURE COMMUNICATIONS
(2023)
Meeting Abstract
Oncology
Brett M. Reid, Ann Chen, Zhihua Chen, Florian A. Karreth, Peter Kanetsky, Jennifer B. Permuth, Ozlen Saglam, Jamie Teer, Xiaoqing Yu, Simon Gayther, Ellen Goode, Paul Pharoah, Thomas A. Sellers, Kate Lawrenson