Article
Oncology
Sarah E. Cole, Esther M. John, Lisa M. Hines, Amanda Phipps, Jocelyn Koo, Sue A. Ingles, Kathy B. Baumgartner, Martha L. Slattery, Roberta McKean-Cowden, Anna H. Wu
Summary: The association between cumulative menstrual months and breast cancer risk varies among different ethnic groups, with African American women showing different patterns compared to other groups. Differences in risk patterns are also observed for hormone receptor positive and hormone receptor negative breast cancer.
INTERNATIONAL JOURNAL OF CANCER
(2022)
Article
Oncology
Danja Sarink, Kami K. White, Lenora W. M. Loo, Anna H. Wu, Lynne R. Wilkens, Loic Le Marchand, Song-Yi Park, V. Wendy Setiawan, Melissa A. Merritt
Summary: The study found that the associations of oral contraceptive use and obesity with ER+ and ER- breast cancer risk vary by race/ethnicity, indicating differences in breast cancer risk among different racial/ethnic groups. Further research is needed to identify factors explaining the observed racial/ethnic differences in breast cancer incidence.
INTERNATIONAL JOURNAL OF CANCER
(2022)
Article
Oncology
Fei Chen, Sungshim L. Park, Lynne R. Wilkens, Peggy Wan, Steven N. Hart, Chunling Hu, Siddhartha Yadav, Fergus J. Couch, David V. Conti, Adam J. de Smith, Christopher A. Haiman
Summary: This multiethnic study found that germline pathogenic variants in BRCA1, BRCA2, and ERCC2 are associated with the development of second primary cancer in breast cancer survivors, providing biological insights and biomarkers for patient monitoring.
Article
Environmental Sciences
Amina Amadou, Delphine Praud, Thomas Coudon, Floriane Deygas, Leny Grassot, Elodie Faure, Florian Couvidat, Julien Caudeville, Bertrand Bessagnet, Pietro Salizzoni, John Gulliver, Karen Leffondre, Gianluca Severi, Francesca Romana Mancini, Beatrice Fervers
Summary: The study found a significant association between cumulative airborne Benzo[a]pyrene (BaP) exposure and breast cancer risk. This association varied depending on menopausal status, hormone receptor status, and grade of differentiation of breast cancer.
ENVIRONMENT INTERNATIONAL
(2021)
Article
Endocrinology & Metabolism
Xinli Wang, Yan Xue
Summary: This study compared ER(-)/PR(+) breast cancer with other subtypes and found that it is more similar to ER(-)/PR(-) breast cancer, with characteristics such as early age of onset, high proportion of infiltrating non-special types, high histological grade, and high HER-2 positivity rate. The study suggests that HER-2 positivity may improve the prognosis of ER(-)/PR(+) breast cancer.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Oncology
Xiaofan Jiang, Guanglei Chen, Lisha Sun, Chao Liu, Yu Zhang, Mingxin Liu, Caigang Liu
Summary: This study examined the impact of different hormone receptor (HR) subgroups on the survival rates of breast cancer patients with bone metastasis. The findings showed that ER-positive/PR-positive patients had the best survival outcomes, while other HR statuses were associated with poorer outcomes. Factors such as older age, male gender, black race, higher tumor grade, HER2-negative status, and lack of surgery or adjuvant treatment were also identified as predictors of worse prognosis for bone metastatic breast cancer. Subgroup analysis based on HER2 status further confirmed the survival advantages of ER-positive/PR-positive patients within HER2-positive breast cancers.
FRONTIERS IN ONCOLOGY
(2022)
Article
Oncology
Lizeth I. Tamayo, Fabian Perez, Angelica Perez, Miriam Hernandez, Alejandra Martinez, Xiaosong Huang, Valentina A. Zavala, Elad Ziv, Susan L. Neuhausen, Luis G. Carvajal-Carmona, Ysabel Duron, Laura Fejerman
Summary: Breast cancer is a major concern among Hispanic/Latina women in the U.S. Genetic counseling has been shown to be effective in informing women about their cancer risk, but Hispanic/Latina women are less likely to undergo genetic testing. In an effort to improve awareness and access to resources, a program was developed to educate monolingual Spanish-speaking individuals in California about hereditary breast cancer. The program successfully identified women in need of genetic counseling and highlighted the need for additional support in the Hispanic/Latina community.
FRONTIERS IN ONCOLOGY
(2022)
Article
Oncology
Thi Xuan Mai Tran, Soyeoun Kim, Huiyeon Song, Boyoung Park
Summary: This study investigated whether the association between family history of breast cancer in first-degree relatives and breast cancer risk varies by breast density. The results showed that both family history of breast cancer and breast density are independently associated with breast cancer risk. These factors should be considered in future risk prediction models of breast cancer.
Article
Oncology
Aparna Gunda, Chetana Basavaraj, Chandra Prakash Serkad, Manjula Adinarayan, Ramu Kolli, Mallikarjuna Siraganahalli Eshwaraiah, Cristina Saura, Fiorella Ruiz, Patricia Gomez, Vicente Peg, Jose Jimenez, Susanne Sprung, Heidi Fiegl, Christine Brunner, Daniel Egle, Gs Bhattacharyya, Manjiri M. Bakre
Summary: The first blinded validation of CanAssist Breast (CAB) in a multi-country European patient cohort demonstrated its ability to accurately predict recurrence risk in early-stage breast cancer patients and its similar performance in Indian and European cohorts.
Article
Oncology
Aglaia Schiza, Davide Mauri, Irma Fredriksson, Anna-Karin Wennstig, Antonios Valachis
Summary: This study found that AI-based therapy showed significant improvement in BCSS in postmenopausal breast cancer patients, regardless of HER2 status. However, there was no significant difference between AI and TAM in terms of BCSS and OS for HER2-positive patients.
BREAST CANCER RESEARCH AND TREATMENT
(2021)
Article
Oncology
Elham Sajjadi, Konstantinos Venetis, Roberto Piciotti, Donatella Gambini, Concetta Blundo, Letterio Runza, Stefano Ferrero, Elena Guerini-Rocco, Nicola Fusco
Summary: The loss of PTEN is associated with tumorigenesis, tumor progression, and therapy resistance in breast cancer patients. Patients with PTEN-low tumors showed significantly enriched hormone receptor negativity and HER2 negativity compared to those with PTEN-retained tumors. The combined analysis of PTEN, HER2, and hormone receptor status provides relevant information for a more precise risk assessment of patients with breast cancer.
Article
Oncology
Trine Koch, Jeanette Therming Jorgensen, Jane Christensen, Christian Dehlendorff, Laerke Priskorn, Mette K. Simonsen, Anne Katrine Duun-Henriksen, Zorana J. Andersen, Anders Juul, Elvira V. Brauner, Martha Hickey
Summary: The study found that unilateral and bilateral oophorectomy is associated with a reduced breast cancer rate in women from the general population, and this association is not modified by use of HRT, hysterectomy, BMI, or shift work.
INTERNATIONAL JOURNAL OF CANCER
(2021)
Article
Oncology
Elle N. Clelland, Harriet T. Rothschild, Anne Patterson, Julissa Molina-Vega, Mandeep Kaur, W. Fraser Symmans, Christopher J. Schwartz, A. Jo Chien, Christopher C. Benz, Rita A. Mukhtar
Summary: This study found that low estrogen receptor expression was associated with younger age, tumor characteristics, and disease-free survival in patients with invasive lobular carcinoma.
BREAST CANCER RESEARCH AND TREATMENT
(2023)
Article
Oncology
Emily I. Holthuis, Gerard T. Vondeling, Josephina G. Kuiper, Vincent Dezentje, Mats Rosenlund, Jetty A. Overbeek, Carolien H. M. van Deurzen
Summary: This study compared clinicopathologic characteristics and survival in breast cancer patients with different levels of HER2 expression. The results showed that in HR-positive patients, those with HER2 IHC0 or HER2-low cancer were older compared to HER2+ patients, while this age difference was not observed in HR-negative patients. The localization of distant metastases differed significantly between HER2 IHC0 or HER2-low and HER2+ cases. Survival rates did not differ markedly by subtypes.
Article
Oncology
Anna H. Wu, Adrian A. Franke, Lynne R. Wilkens, Chiuchen Tseng, Shannon M. Conroy, Yuqing Li, Meera Sangaramoorthy, Linda M. Polfus, Mindy C. DeRouen, Christian Caberto, Christopher Haiman, Daniel O. Stram, Loic Le Marchand, Iona Cheng
Summary: This study found that breast cancer risk in a multiethnic population was not associated with BPA exposure, but was weakly inversely associated with triclosan and paraben exposure. Higher concentrations of paraben exposure were associated with a lower risk of hormone receptor positive cancer, while triclosan exposure had a mainly inverse association with overweight/obese women.
INTERNATIONAL JOURNAL OF CANCER
(2021)
Article
Biochemistry & Molecular Biology
Alejandro J. Brea-Fernandez, Miriam Alvarez-Barona, Jorge Amigo, Maria Tubio-Fungueirino, Pilar Caamano, Montserrat Fernandez-Prieto, Francisco Barros, Silvia De Rubeis, Joseph Buxbaum, Angel Carracedo
Summary: Intellectual disability (ID), a neurodevelopmental disorder characterized by limitations in both intellectual function and adaptive skills, can be diagnosed more accurately using whole exome sequencing (WES). In this study, WES on 244 clinically diagnosed ID patients and their parents resulted in a diagnosis rate of 25.2%, with genotypic information from parents helping identify de novo variants.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Urology & Nephrology
Alfonso Cepeda-Emiliani, Marina Gandara-Cortes, Maria Otero-Alen, Heidy Garcia, Juan Suarez-Quintanilla, Tomas Garcia-Caballero, Rosalia Gallego, Lucia Garcia-Caballero
Summary: This study analyzed the immunohistological patterns of neural tissue in the human penis, with a focus on the prepuce and the potential sexual effects of circumcision. The results provided detailed characterization of the preputial nerve supply and discussed the possible neuroanatomic substrates underlying sensory disturbances post-circumcision.
INTERNATIONAL JOURNAL OF IMPOTENCE RESEARCH
(2023)
Article
Oncology
Hui-Yi Lin, Tung-Sung Tseng, Xinnan Wang, Zhide Fang, Arnold H. Zea, Liang Wang, Julio Pow-Sang, Catherine M. Tangen, Phyllis J. Goodman, Alicja Wolk, Niclas Hakansson, Manolis Kogevinas, Javier Llorca, Hermann Brenner, Ben Schoettker, Jose Esteban Castelao, Manuela Gago-Dominguez, Marija Gamulin, Davor Lessel, Frank Claessens, Steven Joniau, Jong Y. Park
Summary: This study aimed to evaluate the intake patterns of total alcohol and three types of alcoholic beverage (beer, wine, and spirits) in relation to prostate cancer risk and aggressiveness. The study found that prostate cancer patients were more likely to consume wine and spirits, while patients with aggressive prostate cancer drank more beer. Interestingly, heavy wine intake was inversely associated with prostate cancer aggressiveness.
Article
Anthropology
Raul German Negro Gaudin, Gonzalo Figueiro, Sara Flores-Gutierrez, Patricia Mut, Yasser Vega-Requena, Lorena Luna-Andrada, Elizabeth Ackermann, Pedro C. Hidalgo, Angel Carracedo, Maria Torres, Monica Sans
Summary: Uruguayans have a high milk intake despite limited lactose-free products, and lactase persistence (LP) varies in the population. This study examined the relationship between LP-associated alleles, milk consumption, symptoms, and genetic ancestry in Uruguayans. The main allele associated with lactose intolerance in Uruguayans is C/T-13910, which showed a frequency of 33%. Self-reported symptoms, milk intake, and C/T-13910 genotype were significantly correlated. Although individuals with one T-13910 allele appeared to have more European ancestry, no association was found between genetic ancestry and C/T-13910.
AMERICAN JOURNAL OF HUMAN BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Pablo Garcia-Gonzalez, Itziar de Rojas, Sonia Moreno-Grau, Laura Montrreal, Raquel Puerta, Emilio Alarcon-Martin, Ines Quintela, Adela Orellana, Victor Andrade, Pamela V. Martino Adami, Stefanie Heilmann-Heimbach, Pilar Gomez-Garre, Maria Teresa Perinan, Ignacio Alvarez, Monica Diez-Fairen, Raul Nunez Llaves, Claudia Olive Roig, Guillermo Garcia-Ribas, Manuel Menendez-Gonzalez, Carmen Martinez, Miquel Aguilar, Mariateresa Buongiorno, Emilio Franco-Macias, Maria Eugenia Saez, Amanda Cano, Maria J. Bullido, Luis Miguel Real, Eloy Rodriguez-Rodriguez, Jose Luis Royo, Victoria Alvarez, Pau Pastor, Gerard Pinol-Ripoll, Pablo Mir, Miguel Calero Lara, Miguel Medina Padilla, Pascual Sanchez-Juan, Angel Carracedo, Sergi Valero, Isabel Hernandez, Lluis Tarraga, Alfredo Ramirez, Merce Boada, Agustin Ruiz
Summary: Mosaic loss of chromosome Y (mLOY) is a common somatic event associated with Alzheimer's disease (AD) and can be age-confounded in genome-wide association studies. This study used Mendelian randomisation to construct an age-independent mLOY polygenic risk score (mloy-PRS) and found that higher genetic risk for mLOY was associated with faster progression to AD in men with mild cognitive impairment. The study suggests that mLOY is involved in AD pathogenesis and shows associations with cerebrospinal fluid biomarkers.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Dentistry, Oral Surgery & Medicine
Avneesh Chopra, Jiahui Song, January Weiner III, Pervin G. Dincer, Huseyin R. Keceli, Raquel Cruz, Angel Carracedo, Juan Blanco, Henrik Dommisch, Arne S. Schaefer
Summary: This study identifies RSPO4 as a potential risk gene for periodontitis and investigates its effects on transcription factor binding sites. It also reveals that RSPO4 activation can lead to changes in the expression of several genes, including a response to interferon-alpha. These findings suggest that RSPO4 may play a role in periodontitis risk and host defense and barrier integrity.
JOURNAL OF CLINICAL PERIODONTOLOGY
(2023)
Article
Genetics & Heredity
Alejandro Blanco-Verea, Brais Pineiro, Rocio Gil, Eva Ramos-Luis, Maria Alvarez-Barredo, Bernardo Lopez-Abel, Beatriz Sobrino, Jorge Amigo, Jose Ramon Gonzalez-Juanatey, Angel Carracedo, Maria Brion
Summary: This study used a cardiac gene panel for sequencing and ExomeDepth software for copy number variation (CNV) detection. After a rigorous prioritization process, three real CNVs were confirmed in five individuals in the MYH11, FBN1, and PDMI7 genes. Based on Bayes factors, BF values above 60 were established as the threshold for considering real CNVs in the calling process carried out by ExomeDepth on our gene panel.
MOLECULAR DIAGNOSIS & THERAPY
(2023)
Article
Multidisciplinary Sciences
Lea Maitre, Mariona Bustamante, Carles Hernandez-Ferrer, Denise Thiel, Chung-Ho E. Lau, Alexandros Siskos, Marta Vives-Usano, Carlos Ruiz-Arenas, Dolors Pelegri-Siso, Oliver Robinson, Dan Mason, John Wright, Solene Cadiou, Remy Slama, Barbara Heude, Maribel Casas, Jordi Sunyer, Eleni Z. Papadopoulou, Kristine B. Gutzkow, Sandra Andrusaityte, Regina Grazuleviciene, Marina Vafeiadi, Leda Chatzi, Amrit K. Sakhi, Cathrine Thomsen, Ibon Tamayo, Mark Nieuwenhuijsen, Jose Urquiza, Eva Borras, Eduard Sabido, Ines Quintela, Angel Carracedo, Xavier Estivill, Muireann Coen, Juan R. Gonzalez, Hector C. Keun, Martine Vrijheid
Summary: Environmental exposures during early life have a significant impact on lifelong health, but the molecular effects underlying these exposures are poorly understood. In the HELIX project, researchers investigate the associations between individual exposomes and multi-omics profiles in a cohort of 1301 mother-child pairs. The findings reveal potential biological responses and sources of exposure, with pregnancy exposures primarily affecting child DNA methylation changes and childhood exposures affecting features across multiple omics layers, such as the serum metabolome.
NATURE COMMUNICATIONS
(2022)
Article
Respiratory System
Carlota Rodriguez-Garcia, Emilio Rodriguez-Ruiz, Alberto Ruano-Ravina, Raquel Cruz, Maria Pineiro-Lamas, Ana Casal, Pablo Lapunzina, Angel Carracedo, Luis Valdes
JOURNAL OF THORACIC DISEASE
(2023)
Article
Multidisciplinary Sciences
Martin Santamarina-Garcia, Jenifer Brea-Iglesias, Jesper Bertram Bramsen, Mar Fuentes-Losada, Francisco Javier Caneiro-Gomez, Jose Angel Vazquez-Bueno, Hector Lazare-Iglesias, Natalia Fernandez-Diaz, Laura Sanchez-Rivadulla, Yoel Z. Betancor, Miriam Ferreiro-Pantin, Pablo Conesa-Zamora, Jose Ramon Antunez-Lopez, Masahito Kawazu, Manel Esteller, Claus Lindbjerg Andersen, Jose M. C. Tubio, Rafael Lopez-Lopez, Juan Ruiz-Banobre
Summary: Deficient DNA MMR activity leads to tumors with hypermutator phenotype called microsatellite instability (MSI). MSI has become an important predictive biomarker for anti-PD-1 therapies in various tumor types. In this study, we developed and validated MSIMEP, a computational tool for predicting MSI status from microarray DNA methylation tumor profiles of colorectal cancer samples. We demonstrated the high performance of MSIMEP in predicting MSI in different colorectal cancer cohorts and tested its consistency in other tumor types. The MSIMEP models showed better performance compared to a MLH1 promoter methylation-based model in colorectal cancer.
Article
Environmental Sciences
Lorenzo Fabbri, Ronan Garlantezec, Karine Audouze, Mariona Bustamante, Angel Carracedo, Leda Chatzi, Juan Ramon Gonzalez, Regina Grazuleviciene, Hector Keun, Chung-Ho E. Lau, Eduard Sabido, Alexandros P. Siskos, Remy Slama, Cathrine Thomsen, John Wright, Wen Lun Yuan, Maribel Casas, Martin Vrijheid, Lea Maitre
Summary: This study aimed to identify multi-omic signatures associated with childhood exposure to non-persistent endocrine disrupting chemicals (EDCs). By using a repeated sampling strategy and integrating multiple omics data, a total of 950 reproducible associations were found, including 23 direct associations between EDCs and omics. These associations can help us understand the effects of EDCs on neurological and metabolic outcomes.
ENVIRONMENT INTERNATIONAL
(2023)
Article
Oncology
Lola E. Navas, Elena Blanco-Alcaina, Elisa Suarez-Martinez, Eva M. Verdugo-Sivianes, Asuncion Espinosa-Sanchez, Laura Sanchez-Diaz, Eduardo Dominguez-Medina, Ceres Fernandez-Rozadilla, Angel Carracedo, Lindsay E. Wu, Amancio Carnero
Summary: Head and neck squamous cell carcinoma (HNSCC) is a heterogeneous group of tumors that affect different anatomical locations. Classical chemotherapy based on platinum-derived drugs, taxanes, and 5-fluorouracil is the standard treatment. However, tumor recurrence and patient mortality rates remain high. Therefore, the search for new prognostic indicators and treatments for therapy-resistant tumor cells is crucial.
JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH
(2023)
Article
Oncology
Sara Lindstrom, Lu Wang, Helian Feng, Arunabha Majumdar, Sijia Huo, James Macdonald, Tabitha Harrison, Constance Turman, Hongjie Chen, Nicholas Mancuso, Theo Bammler, Steve Gallinger, Stephen B. Gruber, Marc J. Gunter, Loic Le Marchand, Victor Moreno, Kenneth Offit, Immaculata De Vivo, Tracy A. O'Mara, Amanda B. Spurdle, Ian Tomlinson, Rebecca Fitzgerald, Puya Gharahkhani, Ines Gockel, Janusz Jankowski, Stuart Macgregor, Johannes Schumacher, Jill Barnholtz-Sloan, Melissa L. Bondy, Richard S. Houlston, Robert B. Jenkins, Beatrice Melin, Margaret Wrensch, Paul Brennan, David C. Christiani, Mattias Johansson, James Mckay, Melinda C. Aldrich, Christopher Amos, Maria Teresa Landi, Adonina Tardon, D. Timothy Bishop, Florence Demenais, Alisa M. Goldstein, Mark M. Iles, Peter A. Kanetsky, Matthew H. Law, Laufey T. Amundadottir, Rachael Stolzenberg-Solomon, Brian M. Wolpin, Alison Klein, Gloria Petersen, Harvey Risch, Stephen J. Chanock, Mark P. Purdue, Ghislaine Scelo, Paul Pharoah, Siddhartha Kar, Rayjean J. Hung, Bogdan Pasaniuc, Peter Kraft
Summary: This study quantified the shared genetic contribution to risk of different cancers and identified novel cancer susceptibility loci using data from 12 cancer genome-wide association studies. The results suggest that some genetic risk variants are shared among cancers, but most of cancer heritability is specific to certain tissues. Cross-disease analysis allows for increased statistical power and the identification of new susceptibility regions. Future studies are likely to discover additional regions associated with the risk of multiple cancer types.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2023)
Article
Gastroenterology & Hepatology
Laia Bonjoch, Ceres Fernandez-Rozadilla, Miriam Alvarez-Barona, Anael Lopez-Novo, Cristina Herrera-Pariente, Jorge Amigo, Luis Bujanda, David Remedios, Andres Dacal, Joaquin Cubiella, Francesc Balaguer, Fernando Fernandez-Banares, Angel Carracedo, Rodrigo Jover, Sergi Castellvi-Bel, Clara Ruiz-Ponte
Summary: This study used whole-exome sequencing to investigate patients with unexplained colonic polyposis and identified 6 variants in the BMPR2 gene that are associated with an increased risk of colorectal cancer. CRISPR-Cas9 models confirmed the impact of these variants on the BMP signaling pathway and provided evidence for the involvement of BMPR2 variants in germline predisposition to colorectal cancer.
Article
Genetics & Heredity
Daniel Lopez-Lopez, Gema Roldan, Jose Fernandez-Rueda, Gerrit Bostelmann, Rosario Carmona, Virginia Aquino, Javier Perez-Florido, Francisco Ortuno, Guillermo Pita, Rocio Nunez-Torres, Anna Gonzalez-Neira, Maria Pena-Chilet, Joaquin Dopazo
Summary: SPACNACS is a collaborative database that collects copy number variation data from more than 400 genomes and exomes of unrelated Spanish individuals. It provides detailed information on the local genetic variability and can be used for disease gene discovery and pharmacogenomics research.
