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DNA polymerase beta expression in head & neck cancer modulates the poly(ADP-ribose)-mediated replication checkpoint

DNA repair 2025年 150卷 103853页

作者： Md Maruf Khan Wynand P Roos Charlotte R Pearson Stefan M Leonard Anusha Angajala Denise Y Gibbs Jeffrey C Liu Camille Ragin Robert W Sobol Department of Pharmacology & Mitchell Cancer Institute University of South Alabama Mobile AL 36604 USA Department of Pathology and Laboratory Medicine Warren Alpert Medical School & Legorreta Cancer Center Brown University Providence RI 02912 USA. Department of Chemistry Brown University Providence RI 02912 USA. Department of Pharmacology & Mitchell Cancer Institute University of South Alabama Mobile AL 36604 USA. Cancer Prevention and Control Program Fox Chase Cancer Center Temple Health Philadelphia PA 19111 USA. Department of Surgical Oncology Fox Chase Cancer Center Temple Health Philadelphia PA 19111 USA Department of Otolaryngology Lewis Katz School of Medicine at Temple University Philadelphia PA 19140 USA. Department of Pathology and Laboratory Medicine Warren Alpert Medical School & Legorreta Cancer Center Brown University Providence RI 02912 USA. Electronic address: robert_sobol@brown.edu.

Head and Neck Squamous Cell Carcinoma (HNSCC) imposes a significant health burden, necessitating innovative therapeutic strategies to enhance treatment efficacy. Current treatments, such as surgery, radiation, and chemotherapy, have limited effectiveness and yield severe side effects, emphasizing the need for targeted therapies. We have focused on DNA polymerase beta (Polβ) and its roles in replication stress, cellular responses to DNA damaging-therapies, and DNA damage response modifiers. Our investigations reveal a regulatory role for base excision repair (BER) proteins, including Polβ, in the cellular response to inhibitors of poly(ADP-ribose) glycohydrolase (PARG), an enzyme involved in poly(ADP-ribose) (PAR) degradation. The inhibition of PARG, in HNSCC cells, elicits replication stress and activates the PAR-induced S-phase/ATR checkpoint, leading to a block to replication, cell cycle arrest, and the onset of apoptosis. However, Polβ overexpression mitigates this response, reducing replication-stress-induced PAR foci formation, suggesting a modulation of replication checkpoint activation. We found that PARG inhibitor treatment is ineffective on HNSCC cells that overexpress Polβ, implying that the PARG inhibitor-induced PAR and apoptotic response is dependent on the level of Polβ. Further, our in vitro experiments demonstrate that combining PARG and ATR/CHK1 inhibitors overcomes Polβ-mediated treatment resistance in HNSCC cells, producing synergistic effects compared to the individual treatment conditions. Our findings suggest a possible treatment paradigm for HNSCC, employing ATR or CHK1 inhibitors in combination with PARG inhibitors. This strategy offers a promising path for more effective HNSCC treatments, potentially overcoming Polβ-related resistance.

关键词： Ancestry informative markers DNA polymerase beta HNSCC PARG Poly-ADP-ribose

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Correlates of Non-Persistent Endocrine Disrupting Chemical Mixtures Among Reproductive-Aged Black Women in Detroit, Michigan

SSRN

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SSRN 2022年

作者： Schildroth, Samantha Wise, Lauren A. Wesselink, Amelia K. Bethea, Traci N. Fruh, Victoria Taylor, Kyla W. Calafat, Antonia M. Baird, Donna D. Henn, Birgit Claus Department of Environmental Health Boston University School of Public Health BostonMA United States Department of Epidemiology Boston University School of Public Health BostonMA United States Office of Minority Health & Health Disparities Research Georgetown Lombardi Comprehensive Cancer Center WashingtonDC United States National Toxicology Program National Institute of Environmental Health Sciences National Institutes of Health Department of Health and Human Services Research Triangle Park NC United States Division of Laboratory Sciences Centers for Disease Control and Prevention AtlantaGA United States National Institute of Environmental Health Sciences DurhamNC United States

Black women are exposed to multiple non-persistent endocrine disrupting chemicals (EDCs) at higher concentrations compared with white women. Using baseline data from a prospective cohort study of reproductive-aged Black women (N= 751), we characterized profiles of EDC mixtures and identified correlates of exposure. At baseline, we quantified biomarkers of 16 phthalates, 7 phenols, 4 parabens, and triclocarban in urine and collected covariate data through self-administered questionnaires and interviews. We used principal component analysis (PCA) and k- means clustering to describe EDC mixture profiles. Associations between correlates and PCs were estimated as the mean difference (β) in PC scores, while associations between correlates and cluster membership were estimated as the odds ratio (OR) of cluster membership with 95% confidence intervals (CIs). Personal care product use was consistently associated with profiles of higher biomarker concentrations of non-persistent EDCs. Use of nail polish, feminine hygiene products, and sunscreen was associated with a mixture of phthalate and some phenol biomarkers using both methods. Current vaginal ring use was strongly associated with higher concentrations of high molecular weight phthalate biomarkers (from k- means clustering: OR= 2.42, 95% CI= 1.28, 4.59;from PCA: β= -0.32, 95% CI= -0.71, 0.07). Several dietary, reproductive, and demographic correlates were also associated with mixtures of EDC biomarkers. These findings suggest that personal care product use may be a main source of exposure to multiple non-persistent EDCs among reproductive-aged Black women, and that targeted strategies (e.g., reducing use of certain products or canned food consumption) should be implemented to reduce exposure to multiple EDCs among Black women. © 2022, The Authors. All rights reserved.

关键词： Phenols

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Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries

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Nature genetics 2023年第3期55卷 519-520页

作者： Ceres Fernandez-Rozadilla Maria Timofeeva Zhishan Chen Philip Law Minta Thomas Stephanie Schmit Virginia Díez-Obrero Li Hsu Juan Fernandez-Tajes Claire Palles Kitty Sherwood Sarah Briggs Victoria Svinti Kevin Donnelly Susan Farrington James Blackmur Peter Vaughan-Shaw Xiao-Ou Shu Jirong Long Qiuyin Cai Xingyi Guo Yingchang Lu Peter Broderick James Studd Jeroen Huyghe Tabitha Harrison David Conti Christopher Dampier Mathew Devall Fredrick Schumacher Marilena Melas Gad Rennert Mireia Obón-Santacana Vicente Martín-Sánchez Ferran Moratalla-Navarro Jae Hwan Oh Jeongseon Kim Sun Ha Jee Keum Ji Jung Sun-Seog Kweon Min-Ho Shin Aesun Shin Yoon-Ok Ahn Dong-Hyun Kim Isao Oze Wanqing Wen Keitaro Matsuo Koichi Matsuda Chizu Tanikawa Zefang Ren Yu-Tang Gao Wei-Hua Jia John Hopper Mark Jenkins Aung Ko Win Rish Pai Jane Figueiredo Robert Haile Steven Gallinger Michael Woods Polly Newcomb David Duggan Jeremy Cheadle Richard Kaplan Timothy Maughan Rachel Kerr David Kerr Iva Kirac Jan Böhm Lukka-Pekka Mecklin Pekka Jousilahti Paul Knekt Lauri Aaltonen Harri Rissanen Eero Pukkala Johan Eriksson Tatiana Cajuso Ulrika Hänninen Johanna Kondelin Kimmo Palin Tomas Tanskanen Laura Renkonen-Sinisalo Brent Zanke Satu Männistö Demetrius Albanes Stephanie Weinstein Edward Ruiz-Narvaez Julie Palmer Daniel Buchanan Elizabeth Platz Kala Visvanathan Cornelia Ulrich Erin Siegel Stefanie Brezina Andrea Gsur Peter Campbell Jenny Chang-Claude Michael Hoffmeister Hermann Brenner Martha Slattery John Potter Konstantinos Tsilidis Matthias Schulze Marc Gunter Neil Murphy Antoni Castells Sergi Castellví-Bel Leticia Moreira Volker Arndt Anna Shcherbina Mariana Stern Bens Pardamean Timothy Bishop Graham Giles Melissa Southey Gregory Idos Kevin McDonnell Zomoroda Abu-Ful Joel Greenson Katerina Shulman Flavio Lejbkowicz Kenneth Offit Yu-Ru Su Robert Steinfelder Temitope Keku Bethany van Guelpen Thomas Hudson Heather Hampel Rachel Pearlman Sonja Berndt Richard Hayes Marie Elena Martinez Sushma Thomas Douglas Corley Paul Pharoah Susanna Larsson Yun Yen Heinz-Jo Edinburgh Cancer Research Centre Institute of Genomics and Cancer University of Edinburgh Edinburgh UK. Genomic Medicine Group Instituto de Investigacion Sanitaria de Santiago Santiago de Compostela Spain. Colon Cancer Genetics Group Medical Research Council Human Genetics Unit Institute of Genetics and Cancer University of Edinburgh Edinburgh UK. Danish Institute for Advanced Study Department of Public Health University of Southern Denmark Odense Denmark. Division of Epidemiology Department of Medicine Vanderbilt-Ingram Cancer Center Vanderbilt Epidemiology Center Vanderbilt University Medical Center Nashville TN USA. Division of Genetics and Epidemiology Institute of Cancer Research London UK. Public Health Sciences Division Fred Hutchinson Cancer Research Center Seattle WA USA. Genomic Medicine Institute Cleveland Clinic Cleveland OH USA. Population and Cancer Prevention Program Case Comprehensive Cancer Center Cleveland OH USA. Colorectal Cancer Group ONCOBELL Program Bellvitge Biomedical Research Institute Barcelona Spain. Oncology Data Analytics Program Catalan Institute of Oncology Barcelona Spain. Consortium for Biomedical Research in Epidemiology and Public Health Madrid Madrid Spain. Department of Clinical Sciences Faculty of Medicine University of Barcelona Barcelona Spain. Department of Biostatistics School of Public Health University of Washington Seattle WA USA. Institute of Cancer and Genomic Sciences College of Medical and Dental Sciences University of Birmingham Birmingham UK. Department of Public Health Richard Doll Building University of Oxford Oxford UK. Department of Biomedical Informatics Vanderbilt University School of Medicine Nashville TN USA. Department of Preventive Medicine USC Norris Comprehensive Cancer Center Keck School of Medicine University of Southern California Los Angeles CA USA. Center for Public Health Genomics Department of Public Health Sciences University of Virginia Charlottesville VA USA. De

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Show me the roads and give me a road map: Development of a patient conversation tool to improve lung cancer treatment decision-making

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PEC Innovation 2022年 1卷 100094-100094页

作者： Golden, Sara E. Disher, Natalie Dieckmann, Nathan F. Eden, Karen B. Matlock, Daniel Vranas, Kelly C. Slatore, Christopher G. Sullivan, Donald R. Center to Improve Veteran Involvement in Care VA Portland Health Care System (VAPORHCS) Portland OR United States School of Nursing Oregon Health and Science University (OHSU) Portland OR United States Division of Psychology School of Medicine OHSU Portland OR United States Department of Medical Informatics and Clinic Epidemiology OHSU Portland OR United States Division of Geriatric Medicine University of Colorado School of Medicine Aurora CO United States Eastern Colorado Geriatric Research Education and Clinical Center Denver CO United States Section of Pulmonary and Critical Care Medicine VAPORHCS Portland OR United States Division of Pulmonary Allergy and Critical Care Medicine OHSU Portland OR United States Cancer Prevention and Control Program Knight Cancer Institute OHSU Portland OR United States

Objective: Evidence-based decision support resources do not exist for persons with lung cancer. We sought to develop and refine a treatment decision support, or conversation tool, to improve shared decision-making (SDM). Methods: We conducted a multi-site study among patients with stage I-IV non-small cell lung cancer (NSCLC) who completed or had ongoing lung cancer treatment using semi-structured, cognitive qualitative interviews to assess participant understanding of content. We used an integrated approach of deductive and inductive thematic analysis. Results: Twenty-seven patients with NSCLC participated. Participants with prior cancer experiences or those with family members with prior cancer experiences reported better preparedness for cancer treatment decision-making. All participants agreed the conversation tool would be helpful to clarify their thinking about values, comparisons, and goals of treatment, and to help patients communicate more effectively with their clinicians. Conclusion: Participants reported that the tool may empower them with confidence and agency to actively participate in cancer treatment SDM. The conversation tool was acceptable, comprehensible, and usable. Next steps will test effectiveness on patient-centered and decisional outcomes. Innovation: A personalized conversation tool using consequence tables and core SDM components is novel in that it can encourage a tailored, conversational dynamic and includes patient-centered values along with traditional decisional outcomes. © 2022

关键词： Decision support techniques Lung neoplasm Qualitative research

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Improving Outcomes in Plasmablastic Lymphoma: A Multicenter Experience from an American Cohort

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Blood 2024年 144卷 573-573页

作者： Matthew Hamby Brian Egleston Zachary AK Frosch Raphael E. Steiner Ariela Noy Veronica Carvajal Seda S. Tolu Gaston Jean-Louis Jennifer E. Amengual Romil Patel Sairah Ahmed Timothy Voorhees Robert Baiocchi Andres Ramirez-Gamero Jorge J. Castillo Emily Hamburger Christopher Dittus Imran A. Nizamuddin Neha Mehta-Shah Nyein Nyein Thaw Dar Stefan K. Barta University of Pennsylvania Lancaster PA Fox Chase Cancer Center Philadelphia PA Department of Hematology/Oncology； Cancer Prevention and Control Research Program Fox Chase Cancer Center Philadelphia PA Lymphoma Service Department of Medicine Memorial Sloan Kettering Cancer Center New York NY Lymphoma Program Abramson Cancer Center University of Pennsylvania Philadelphia Division of Hematology & Oncology Columbia University Irving Medical Center New York City NY Columbia University New York NY Division of Hematology & Oncology Columbia University Irving Medical Center New York Department of Lymphoma and Myeloma The University of Texas MD Anderson Cancer Center Houston TX Department of Lymphoma/Myeloma and Stem Cell Transplantation The University of Texas MD Anderson Cancer Center Houston TX MD Anderson Cancer Center Houston TX Division of Hematology The Ohio State University Columbus OH James Comprehensive Cancer Center The Ohio State University Columbus OH Dana-Farber Cancer Institute Bing Center for Waldenström Macroglobulinemia Boston MA Dana-Farber Cancer Institute Harvard Medical School Boston MA Lineberger Comprehensive Cancer Center University of North Carolina Chapel Hill NC Division of Oncology Washington University School of Medicine St. Louis MO Siteman Cancer Center Washington University in St. Louis St Louis MO Siteman Cancer Center Washington University School of Medicine St. Louis Moffitt Cancer Center at Memorial Healthcare System Pembroke Pines FL Division of Hematology-Oncology Perelman Center for Advanced Medicine University of Pennsylvania Philadelphia PA Abramson Cancer Center University of Pennsylvania Philadelphia PA

Introduction: Plasmablastic lymphoma (PBL) is a rare subtype of large B-cell lymphoma first described in 1997 in a small cohort of persons living with HIV (HIV-PBL). Since then, it has been observed post-transplant (PTLD-PBL) and even in otherwise immunocompetent patients (IC-PBL). With no current well-defined standard of care, prognosis of PBL has historically been poor (median overall survival (OS) 7-15 months), although recent studies suggest modest improvements in survival. We aimed to better characterize disease characteristics, treatment patterns, and factors associated with outcomes in a large contemporary US cohort. Methods: Patients (pts) ≥ 18 years old with PBL diagnosed between 1/2005 and 12/2022 from 20 academic centers in the United States were identified. Data on pt and disease characteristics and treatment were collected from medical records. OS, progression-free survival (PFS), lymphoma-specific survival (LSS), treatment-related mortality (TRM), and non-relapse mortality (NRM) were calculated using the Kaplan-Meier method. Cox regression and Fine-Gray competing risk regression were used to assess the association between clinical factors and survival outcomes. Results: 331 pts with PBL were identified. The median age at diagnosis was 53 years (range 20-91y). 78% were male (n = 257). 46% had HIV-PBL (n = 151), 35% had IC-PBL (n = 117), 6% had PTLD-PBL (n = 20), and 13% had PBL with other immunosuppressed states (n = 43). 66% of pts were White (n = 219), 18% were Black/African American (n = 58), and 31% were Hispanic (n = 104). 74% of Black/African American and 52% of Hispanic pts were diagnosed with HIV-PBL, compared with only 37% of White pts. The median age at diagnosis was greater in the IC-PBL group (68y) than in the HIV-PBL and PTLD-PBL groups (46y and 55y, respectively; p < 0.001). Most pts presented with Stage IV disease (61%, n = 220). Bone marrow (BM) involvement was present in 22% (n = 73). 92% of pts had extranodal sites involved at presenta

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Obesity, Dietary inflammation, and Frailty among Older Adults: Evidence from the National Health and Nutrition Examination Survey

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Journal of Nutrition in Gerontology and Geriatrics 2019年第1期38卷 18-32页

作者： Lohman, Matthew C. Resciniti, Nicholas V. Wirth, Michael D. Shivappa, Nitin Hébert, James R. Department of Epidemiology and Biostatistics Arnold School of Public Health University of South Carolina Columbia SC United States Cancer Prevention and Control Program University of South Carolina Columbia SC United States College of Nursing University of South Carolina Columbia SC United States Connecting Health Innovations LLC Columbia SC United States

Knowledge related to the relationship between obesity and frailty is limited. This study aimed to investigate associations between obesity, dietary inflammation, and frailty among older adults. Study data came from National Health and Nutrition Examination Survey (2007–2014) examinations of adults age ≥60 years (n = 7182). Dietary inflammatory potential was determined using the Dietary Inflammatory Index (DII ^® ) derived from 24-h dietary recall. We analyzed independent and joint associations of obesity and DII with frailty to evaluate interaction. Multivariable logistic regression revealed that both obesity (Odds Ratio [OR] = 2.24, 95% CI: 1.68, 2.99) and moderately pro-inflammatory DII (OR = 1.68, 95% CI: 1.10, 2.58) were independently associated with greater frailty prevalence. A negative multiplicative interaction between obesity and highest pro-inflammatory diet also was found (adjusted odds in non-obese and obese were 2.07 and 2.37, respectively;p = 0.046). Results indicate the importance of considering obesity and dietary inflammatory potential when screening for frailty or developing treatments. © 2019, © 2019 Taylor & Francis Group, LLC.

关键词： Dietary inflammation frailty interaction obesity

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Genetically predicted circulating concentrations of micronutrients and risk of colorectal cancer among individuals of European descent: a Mendelian randomization study (vol 113, pg 1490, 2021)

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AMERICAN JOURNAL OF CLINICAL NUTRITION 2021年第6期113卷 1715-1715页

作者： Tsilidis, K. K. Department of Hygiene and Epidemiology University of Ioannina School of Medicine Ioannina Greece Department of Epidemiology and Biostatistics School of Public Health Imperial College London London United Kingdom Section of Nutrition and Metabolism International Agency for Research on Cancer Lyon France Department of Population Health Sciences Bristol Medical School University of Bristol Bristol United Kingdom Medical Research Council Integrative Epidemiology Unit Department of Population Health Sciences Bristol Medical School University of Bristol Bristol United Kingdom University Hospitals Bristol National Health Service Foundation Trust National Institute for Health Research Bristol Biomedical Research Centre University of Bristol Bristol United Kingdom Medical Research Council Biostatistics Unit School of Clinical Medicine University of Cambridge Cambridge United Kingdom Department of Preventive Medicine and Community Health The University of Texas Medical Branch Galveston TX USA Nuffield Department of Population Health University of Oxford Oxford United Kingdom Division of Human Nutrition and Health Wageningen University & Research Wageningen Netherlands Division of Cancer Epidemiology and Genetics National Cancer Institute NIH Bethesda MD USA Division of Clinical Epidemiology and Aging Research German Cancer Research Center (DKFZ) Heidelberg Germany Medical Genetics Service University Hospital Center (CHU) Nantes Nantes France Leeds Institute of Cancer and Pathology University of Leeds Leeds United Kingdom Huntsman Cancer Institute University of Utah Salt Lake City UT USA Department of Population Health Sciences University of Utah Salt Lake City UT USA Division of Preventive Oncology German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT) Heidelberg Germany German Cancer Consortium (DKTK) German Cancer Research Center (DKFZ) Heidelberg Germany Institute for Health Research Kaiser Permanente Colorado Denver CO USA Be

Background The literature on associations of circulating concentrations of minerals and vitamins with risk of colorectal cancer is limited and inconsistent. Evidence from randomized controlled trials (RCTs) to support the efficacy of dietary modification or nutrient supplementation for colorectal cancer prevention is also *** To complement observational and RCT findings, we investigated associations of genetically predicted concentrations of 11 micronutrients (β-carotene, calcium, copper, folate, iron, magnesium, phosphorus, selenium, vitamin B-6, vitamin B-12, and zinc) with colorectal cancer risk using Mendelian randomization (MR).Methods Two-sample MR was conducted using 58,221 individuals with colorectal cancer and 67,694 controls from the Genetics and Epidemiology of Colorectal cancer Consortium, Colorectal cancer Transdisciplinary Study, and Colon cancer Family Registry. Inverse variance-weighted MR analyses were performed with sensitivity analyses to assess the impact of potential violations of MR *** Nominally significant associations were noted for genetically predicted iron concentration and higher risk of colon cancer [ORs per SD (ORSD): 1.08; 95% CI: 1.00, 1.17; P value = 0.05] and similarly for proximal colon cancer, and for vitamin B-12 concentration and higher risk of colorectal cancer (ORSD: 1.12; 95% CI: 1.03, 1.21; P value = 0.01) and similarly for colon cancer. A nominally significant association was also noted for genetically predicted selenium concentration and lower risk of colon cancer (ORSD: 0.98; 95% CI: 0.96, 1.00; P value = 0.05) and similarly for distal colon cancer. These associations were robust to sensitivity analyses. Nominally significant inverse associations were observed for zinc and risk of colorectal and distal colon cancers, but sensitivity analyses could not be performed. None of these findings survived correction for multiple testing. Genetically predicted concentrations of β-carotene, calcium, c

关键词： Mendelian randomization genes nutrition supplements colorectal cancer

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Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk

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European journal of human genetics : EJHG 2022年第5期30卷 630-631页

作者： 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 Balmaña Elisa V Bandera Rosa B Barkardottir Daniel Barrowdale Matthias W Beckmann Alicia Beeghly-Fadiel Javier Benitez Marina Bermisheva Marcus Q Bernardini Line Bjorge Amanda Black Natalia V 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 Dörk Andreas du Bois Matthias Dürst Diana M Eccles Heather A Eliassen Christoph Engel Gareth D Evans Peter A Fasching James M Flanagan Renée T 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 Eric Hahnen Christopher A Haiman Niclas Håkansson Ute Hamann Thomas V O Hansen Holly R Harris Mikael Hartman Florian Heitz Michelle A T Hildebrandt Estrid Høgdall Claus K Høgdall 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 Jan Lubiński Phuong L Mai Siranoush Manoukian Jeffrey R Marks Ra University of Cambridge Centre for Cancer Genetic Epidemiology Department of Public Health and Primary Care Cambridge UK. University of Cambridge Centre for Cancer Genetic Epidemiology Department of Oncology Cambridge UK. Center for Bioinformatics and Functional Genomics Cedars-Sinai Medical Center Los Angeles CA USA. Radboud University Medical Center Radboud Institute for Health Sciences Nijmegen The Netherlands. Netherlands Comprehensive Cancer Organisation Utrecht The Netherlands. The Netherlands Cancer Institute-Antoni van Leeuwenhoek hospital Family Cancer Clinic Amsterdam The Netherlands. Veneto Institute of Oncology IOV-IRCCS Immunology and Molecular Oncology Unit Padua Italy. Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital Fred A. Litwin Center for Cancer Genetics Toronto ON Canada. University of Toronto Department of Molecular Genetics Toronto ON Canada. University of California Irvine Department of Epidemiology Genetic Epidemiology Research Institute Irvine CA USA. N.N. Alexandrov Research Institute of Oncology and Medical Radiology Minsk Belarus. 'Agii Anargiri' Cancer Hospital Athens Greece. University of Texas MD Anderson Cancer Center Department of Breast Medical Oncology Houston TX USA. Lund University Department of Cancer Epidemiology Clinical Sciences Lund Sweden. Vall d'Hebron Institute of Oncology Hereditary cancer Genetics Group Barcelona Spain. University Hospital of Vall d'Hebron Department of Medical Oncology Barcelona Spain. Rutgers Cancer Institute of New Jersey Cancer Prevention and Control Program New Brunswick NJ USA. Landspitali University Hospital Department of Pathology Reykjavik Iceland. University of Iceland BMC (Biomedical Centre) Faculty of Medicine Reykjavik Iceland. University Hospital Erlangen Friedrich-Alexander-University Erlangen-Nuremberg Department of Gynecology and Obstetrics Comprehensive Cancer Center ER-EMN Erlangen Germany. Vanderbilt University School of Medicine Division of Epide

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Association of gene variant type and location with breast cancer risk in the general population

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Annals of Oncology 2025年

作者： Akamandisa, M.P. Boddicker, N.J. Yadav, S. Hu, C. Hart, S.N. Ambrosone, C.B. Anton-Culver, H. Auer, P.L. Bodelon, C. Burnside, E.S. Chen, F. Eliassen, A.H. Goldgar, D.E. Haiman, C. Hodge, J.M. Huang, H. John, E.M. Karam, R. Lacey, J.V. Lindstroem, S. Martinez, M.E. Na, J. Neuhausen, S.L. Olson, J.E. Pal, T. Palmer, J.R. Patel, A.V. Pesaran, T. Polley, E.C. Richardson, M.E. Ruddy, K.J. Sandler, D.P. Teras, L.R. Trentham-Dietz, A. Vachon, C.M. Weinberg, C. Winham, S.J. Yao, S. Zirpoli, G. Kraft, P. Weitzel, J.N. Domchek, S.M. Couch, F.J. Nathanson, K.L. Division of Translational Medicine and Human Genetics Department of Medicine Perelman School of Medicine at the University of Pennsylvania Philadelphia United States Department of Quantitative Health Sciences Mayo Clinic Rochester United States Department of Oncology Mayo Clinic Rochester United States Department of Laboratory Medicine and Pathology Mayo Clinic Rochester United States Department of Cancer Prevention and Control Roswell Park Cancer Center Buffalo United States University of California Irvine Irvine United States Division of Biostatistics Institute for Health & Equity Cancer Center Medical College of Wisconsin Milwaukee United States Department of Population Science American Cancer Society Atlanta United States Department of Radiology University of Wisconsin Madison United States Keck School of Medicine University of Southern California Los Angeles United States Harvard TH Chan School of Public Health Harvard University Cambridge United States Channing Division of Network Medicine Department of Medicine Brigham and Women's Hospital and Harvard Medical School Boston University of Utah Salt Lake United States Department of Epidemiology and Population Health Stanford University School of Medicine Palo Alto United States Ambry Genetics Aliso Viejo United States Beckman Research Institute City of Hope Cancer Center Duarte United States Department of Epidemiology University of Washington Seattle United States Department of Family Medicine and Public Health University of California San Diego San Dieg United States National Institute of Environmental Health Sciences Durham United States Division of Genetic Medicine in the Department of Medicine Vanderbilt University Medical Center Nashville United States Slone Epidemiology Center Boston University Boston United States Department of Public Health Sciences University of Chicago Chicago United States University of Wisconsin-Madison School of Medicine and Public Health Madison United States Bio

Background: Pathogenic variants (PVs) in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk. It is unknown, however, whether this risk differs by PV type or location in carriers ascertained from the general population. Patients and methods: To evaluate breast cancer risks associated with PV type and location in ATM, BRCA1, BRCA2, CHEK2, and PALB2, we carried out age-adjusted case-control association analysis in 32 247 women with and 32 544 age-matched women without breast cancer from the CARRIERS Consortium. PVs were grouped by type and location within genes and assessed for risks of breast cancer [odds ratios (OR), 95% confidence intervals (CI), and P values] using logistic regression. Results: Compared with women carrying BRCA2 exon 11 protein truncating variants (PTVs) in the CARRIERS population-based study, women with BRCA2 ex1-10 PTVs (OR = 13.5, 95% CI 6.0-38.7, P < 0.001) and ex13-27 PTVs (OR = 9.0, 95% CI 4.9-18.5, P < 0.001) had higher breast cancer risks, lower rates of estrogen receptor (ER)-negative breast cancer (ex13-27 OR = 0.5, 95% CI 0.2-0.9, P = 0.035;ex1-10 OR = 0.5, 95% CI 0.1-1.0, P = 0.065), and earlier age at breast cancer diagnosis (ex13-27 5.5 years, P < 0.001;ex1-10 2.4 years, P = 0.169). These associations with ER-negative breast cancer and age were replicated in a high-risk clinical cohort from Ambry Genetics and the population-based UK Biobank cohort. No differences in risk by gene region were observed for PTVs in other predisposition genes. Conclusions: Population-based and clinical high-risk cohorts establish that PTVs in exon 11 of BRCA2 are associated with reduced breast cancer risk, later age at diagnosis, and greater risk of ER-negative disease. These differential risks may improve individualized risk prediction and clinical management for women carrying BRCA2 PTVs. © 2025 The Authors

关键词： breast cancer risk pathogenic variant type and location population-based cohort

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Corrigendum to "Harmonization of acronyms for volatile organic compound metabolites using a standardized naming system" [Int. J. Hygiene Environ. Health 235 (2021) 113749]

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International journal of hygiene and environmental health 2023年 247卷 114030页

作者： Denise S Tevis Sharon R Flores Brandon M Kenwood Deepak Bhandari Peyton Jacob Jia Liu Pawel K Lorkiewicz Daniel J Conklin Stephen S Hecht Maciej L Goniewicz Benjamin C Blount Víctor R De Jesús Tobacco and Volatiles Branch Division of Laboratory Sciences National Center for Environmental Health U.S. Centers for Disease Control and Prevention Atlanta GA USA. Tobacco and Volatiles Branch Division of Laboratory Sciences National Center for Environmental Health U.S. Centers for Disease Control and Prevention Atlanta GA USA. Electronic address: DBhandari@cdc.gov. Department of Medicine University of California San Francisco Division of Cardiology Clinical Pharmacology Program San Francisco General Hospital Medical Center University of California at San Francisco San Francisco CA USA. American Heart Association - Tobacco Regulation and Addiction Center Superfund Research Center Diabetes and Obesity Center Christina Lee Brown Envirome Institute University of Louisville Louisville KY USA. Masonic Cancer Center University of Minnesota Minneapolis MN USA. Nicotine and Tobacco Product Assessment Resource Department of Health Behavior Division of Cancer Prevention and Population Studies Roswell Park Comprehensive Cancer Center Buffalo NY USA.

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