Article
Oncology
Hyeong In Ha, Eun Young Park, Kyung Jin Eoh, Yeon Jee Lee, Sang-Soo Seo, Sokbom Kang, Sang-Yoon Park, Myong Cheol Lim
Summary: This study investigated the clinical significance of the ovarian cancer cluster region (OCCR) in BRCA1 and BRCA2 genes. The results showed that patients with BRCA1 pathogenic variants (PVs) in the OCCR region had shorter progression-free survival (PFS) compared to those outside the OCCR. This trend was more pronounced in the platinum-sensitive subgroup. However, no significant differences were found in overall survival (OS) between patients with BRCA1/2 PVs, regardless of the variant location.
GYNECOLOGIC ONCOLOGY
(2022)
Article
Oncology
Lieke Lanjouw, Marian J. E. Mourits, Joost Bart, Arja ter Elst, Lieke P. Berger, Annemieke H. van der Hout, Naufil Alam, Geertruida H. de Bock
Summary: This study aimed to evaluate the BRCA1/2 testing rates in patients with epithelial ovarian cancer and compare the rates between germline testing and tumor-first testing. The results showed suboptimal testing rates and indicated that patients with non-high-grade serous carcinoma were less likely to receive BRCA1/2 testing. This suggests that clinicians may not be adhering to the guidelines recommending testing for all patients with epithelial ovarian cancer.
INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER
(2023)
Article
Oncology
Talayeh S. Ghezelayagh, Kathryn P. Pennington, Barbara M. Norquist, Nithisha Khasnavis, Marc R. Radke, Mark R. Kilgore, Rochelle L. Garcia, Ming Lee, Ronit Katz, Kimberly K. Leslie, Rosa Ana Risques, Elizabeth M. Swisher
Summary: TP53 mutations are common in OC, especially in HGSC, and significantly co-occur with BRCA mutations. While TP53 mutations are associated with platinum sensitivity, they do not impact overall survival when adjusted for BRCA mutations. The classification scheme for TP53 mutations does not alter significant outcomes.
GYNECOLOGIC ONCOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Kristie-Ann Dickson, Tao Xie, Christian Evenhuis, Yue Ma, Deborah J. Marsh
Summary: PARP inhibitors have shown efficacy in treating tumors with BRCA gene defects, improving survival outcomes. Variability exists between different PARP inhibitors in terms of chemical structure, toxicity, and cell survival, with acquired resistance being a concerning issue that needs further exploration.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Oncology
Giovanna Barbero, Roberta Zuntini, Pamela Magini, Laura Desiderio, Michela Bonaguro, Anna Myriam Perrone, Daniela Rubino, Mina Grippa, Antonio De Leo, Claudio Ceccarelli, Lea Godino, Sara Miccoli, Simona Ferrari, Donatella Santini, Pierandrea De Iaco, Claudio Zamagni, Giovanni Innella, Daniela Turchetti
Summary: Ovarian cancer is a highly lethal malignancy and genetic defects, including BRCA1 and BRCA2 alterations, are common in patients. A comprehensive study of 30 ovarian cancer patients revealed that 23% had BRCA alterations detectable by clinical testing, while 17% showed epigenetic silencing of BRCA1 in the tumor. Patients with BRCA deficit had greater genomic instability but better survival compared to those without BRCA deficit.
Article
Oncology
Tharani Sivakumaran, Michael Krasovitsky, Alison Freimund, Yeh Chen Lee, Kate Webber, Jane So, Christie Norris, Michael Friedlander, Linda Mileshkin, George Au-Yeung
Summary: This study retrospectively analyzed the treatment patterns and outcomes of patients with epithelial ovarian cancer who received PARP inhibitor therapy at six Australian gynecological oncology centers. The majority of patients continued chemotherapy after PARP inhibitor treatment, and platinum doublet chemotherapy may have a potential improvement in progression-free survival.
INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER
(2022)
Article
Oncology
Robert D. D. Morgan, George J. J. Burghel, Nicola Flaum, Michael Bulman, Philip Smith, Andrew R. R. Clamp, Jurjees Hasan, Claire L. L. Mitchell, Zena Salih, Emma R. R. Woodward, Fiona Lalloo, Emma J. J. Crosbie, Richard J. J. Edmondson, Helene Schlecht, Gordon C. C. Jayson, D. Gareth R. Evans
Summary: Approximately 15% of patients diagnosed with high-grade non-mucinous epithelial ovarian cancer (EOC) have a germline BRCA1/2 mutation, with somatic mutations occurring more frequently in patients aged >= 80. Germline BRCA1/2 testing in this age group can be reserved for those with a detectable tumour BRCA1/2 mutation. Testing for tumour BRCA1/2 and homologous recombination deficiency is sufficient for patients aged >= 80 with non-mucinous high-grade EOC.
Article
Oncology
Robert D. Morgan, Andrew R. Clamp, Bethany M. Barnes, Kirsten Timms, Helene Schlecht, Laura Yarram-Smith, Yvonne Wallis, Mikel Valganon-Petrizan, Suzanne MacMahon, Rhian White, Sian Morgan, Sarah McKenna, Emma Hudson, Laura Tookman, Angela George, Ranjit Manchanda, Sudha S. Sundar, Shibani Nicum, James D. Brenton, Rebecca S. Kristeleit, Susana Banerjee, Iain A. McNeish, Jonathan A. Ledermann, Stephen S. Taylor, D. Gareth R. Evans, Gordon C. Jayson
Summary: This study reports data from the first year of routine homologous recombination deficiency testing in the NHS in England, Wales, and Northern Ireland, demonstrating the significant survival benefits of olaparib plus bevacizumab maintenance therapy in women with newly diagnosed, advanced, high-grade ovarian cancer.
INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER
(2023)
Article
Biochemistry & Molecular Biology
Amar H. Mahdi, Yanying Huo, Ying Chen, Pier Selenica, Anchal Sharma, Elise Merritt, Nicola Barnard, Chang Chan, Shridar Ganesan, Jorge S. Reis-Filho, Britta Weigelt, Subhajyoti De, Bing Xia
Summary: The BRCA1-PALB2-BRCA2 pathway plays a critical role in maintaining genome stability and suppressing cancer. Loss of the BRCA pathway may accelerate p53-associated tumor development without altering the fundamental tumorigenic processes.
Article
Oncology
Kate Gersekowski, Rachel Delahunty, Kathryn Alsopb, Ellen L. Goode, Julie M. Cunningham, Stacey J. Winham, Paul Pharoah, Honglin Song, Susan Jordan, Sian Fereday, Anna DeFazio, Michael Friedlander, Andreas Obermair, Penelope M. Webb
Summary: The adverse effect of smoking on survival may be stronger for women with a BRCA variant, while the associations between physical activity, BMI, and alcohol intake and survival are unclear.
GYNECOLOGIC ONCOLOGY
(2022)
Article
Oncology
Pavlina Spiliopoulou, Samantha Hinsley, Iain A. McNeish, Patricia Roxburgh, Ros Glasspool
Summary: Oral metronomic cyclophosphamide showed clinical benefit in approximately 48% of patients with recurrent ovarian cancer. The presence of a gBRCA1/2 mutation may serve as an independent predictor of response to treatment.
INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER
(2021)
Article
Oncology
E. Sun Paik, Eun Jin Heo, Chel Hun Choi, Jae-Hoon Kim, Jae-Weon Kim, Yong-Man Kim, Sang-Yoon Park, Jeong-Won Lee, Jong-Won Kim, Byoung-Gie Kim
Summary: The study investigated the prevalence, clinical characteristics, and treatment response of BRCA1 and BRCA2 mutations in Korean patients with EOC. The presence of BRCA mutation was significantly associated with overall survival and platinum sensitivity, indicating it as an independent prognostic factor. Patients with BRCA mutations showed a higher response rate to subsequent chemotherapy after recurrence and better overall survival.
Article
Oncology
Chen Nahshon, Yakir Segev, Meirav Schmidt, Ofer Lavie
Summary: This study examines the attitudes of BRCA1/2 mutation carriers towards surgical risk reduction procedures. The results show high performance rates for risk reduction bilateral salpingo-oophorectomy, though hysterectomy was added in only 10% of cases. Additionally, only 33% of patients opted for risk reduction mastectomy, despite high awareness and acceptance rates. These findings provide important insights for clinicians counseling BRCA1/2 mutation carriers and highlight the need for personalized management plans.
INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER
(2023)
Review
Biochemistry & Molecular Biology
Nicole E. James, Morgan Woodman, Jennifer R. Ribeiro
Summary: EOC patients have low response rates to immunotherapies, but evidence suggests ovarian tumors are immunogenic and immune-related genomic profiles can serve as prognostic markers. Specific research areas that need to be addressed include developing immune-based prognostic signatures and driving advancements in this field.
Article
Oncology
Yomali Ferreyra, Gina Rosas, Alicia M. Cock-Rada, Jhajaira Araujo, Leny Bravo, Franco Doimi, Jhoysi Casas, Maria de los Angeles Clavo, Joseph A. Pinto, Carolina Belmar-Lopez
Summary: This retrospective study describes the prevalence of pathogenic/likely pathogenic (P/LP) variants and variants of uncertain/unknown significance (VUS) in BRCA1 and BRCA2 genes in Peruvian breast and ovarian cancer patients. The study found that 14.7% of breast cancer patients and 20.7% of ovarian cancer patients carried P/LP variants in BRCA1/2. The most frequent pathogenic variants were c.2105dupT in BRCA1 and c.8023A>G in BRCA2.
FRONTIERS IN ONCOLOGY
(2023)
Article
Gastroenterology & Hepatology
Yongjia Feng, Jonathan E. McDunn, Daniel H. Teitelbaum
AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY
(2010)
Article
Biochemistry & Molecular Biology
George D. Leikauf, Hannah Pope-Varsalona, Vincent J. Concel, Pengyuan Liu, Kiflai Bein, Annerose Berndt, Timothy M. Martin, Koustav Ganguly, An Soo Jang, Kelly A. Brant, Richard A. Dopico, Swapna Upadhyay, Y. P. Peter Di, Qian Li, Zhen Hu, Louis J. Vuga, Mario Medvedovic, Naftali Kaminski, Ming You, Danny C. Alexander, Jonathan E. McDunn, Daniel R. Prows, Daren L. Knoell, James P. Fabisiak
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY
(2012)
Article
Oncology
Dirk Spitzer, Peter O. Simon, Hiroyuki Kashiwagi, Jinbin Xu, Chenbo Zeng, Suwanna Vangveravong, Dong Zhou, Katherine Chang, Jonathan E. McDunn, John R. Hornick, Peter Goedegebuure, Richard S. Hotchkiss, Robert H. Mach, William G. Hawkins
Article
Critical Care Medicine
Kevin W. McConnell, Jonathan E. McDunn, Andrew T. Clark, W. Michael Dunne, David J. Dixon, Isaiah R. Turnbull, Peter J. DiPasco, William F. Osberghaus, Benjamin Sherman, James R. Martin, Michael J. Walter, J. Perren Cobb, Timothy G. Buchman, Richard S. Hotchkiss, Craig M. Coppersmith
CRITICAL CARE MEDICINE
(2010)
Article
Oncology
Peter O. Simon, Jonathan E. McDunn, Hiroyuki Kashiwagi, Katherine Chang, Peter S. Goedegebuure, Richard S. Hotchkiss, William G. Hawkins
INTERNATIONAL JOURNAL OF CANCER
(2009)
Article
Immunology
Steven B. Bradfute, Paul E. Swanson, Mark A. Smith, Eizo Watanabe, Jonathan E. McDunn, Richard S. Hotchkiss, Sina Bavari
JOURNAL OF IMMUNOLOGY
(2010)
Article
Immunology
Shigeaki Inoue, Jacqueline Unsinger, Christopher G. Davis, Jared T. Muenzer, Thomas A. Ferguson, Katherine Chang, Dale F. Osborne, Andrew T. Clark, Craig M. Coopersmith, Jonathan E. McDunn, Richard S. Hotchkiss
JOURNAL OF IMMUNOLOGY
(2010)
Article
Immunology
Jacqueline Unsinger, Margaret McGlynn, Kevin R. Kasten, Andrew S. Hoekzema, Eizo Watanabe, Jared T. Muenzer, Jacquelyn S. McDonough, Johannes Tschoep, Thomas A. Ferguson, Jonathan E. McDunn, Michel Morre, David A. Hildeman, Charles C. Caldwell, Richard S. Hotchkiss
JOURNAL OF IMMUNOLOGY
(2010)
Article
Cell Biology
Pavan Brahmamdam, Shigeaki Inoue, Jacqueline Unsinger, Katherine C. Chang, Jonathan E. McDunn, Richard S. Hotchkiss
JOURNAL OF LEUKOCYTE BIOLOGY
(2010)
Article
Oncology
Dirk Spitzer, Jonathan E. McDunn, Stacey Plambeck-Suess, Peter S. Goedegebuure, Richard S. Hotchkiss, William G. Hawkins
MOLECULAR CANCER THERAPEUTICS
(2010)
Article
Food Science & Technology
James P. Fabisiak, Mario Medvedovic, Danny C. Alexander, Jonathan E. McDunn, Vincent J. Concel, Kiflai Bein, An Soo Jang, Annerose Berndt, Louis J. Vuga, Kelly A. Brant, Hannah Pope-Varsalona, Richard A. Dopico, Koustav Ganguly, Swapna Upadhyay, Qian Li, Zhen Hu, Naftali Kaminski, George D. Leikauf
MOLECULAR NUTRITION & FOOD RESEARCH
(2011)
Article
Multidisciplinary Sciences
Miranda Y. Fong, Jonathan McDunn, Sham S. Kakar
Article
Toxicology
Toufan Parman, Deborah I. Bunin, Hanna H. Ng, Jonathan E. McDunn, Jacob E. Wulff, Abraham Wang, Robert Swezey, Laura Rasay, David G. Fairchild, Izet M. Kapetanovic, Carol E. Green
TOXICOLOGICAL SCIENCES
(2011)
Article
Genetics & Heredity
Meredith V. Brown, Jonathan E. McDunn, Philip R. Gunst, Elizabeth M. Smith, Michael V. Milburn, Dean A. Troyer, Kay A. Lawton