Article
Multidisciplinary Sciences
Juliette Coignard, Michael Lush, Jonathan Beesley, Tracy A. O'Mara, Joe Dennis, Jonathan P. Tyrer, Daniel R. Barnes, Lesley McGuffog, Goska Leslie, Manjeet K. Bolla, Muriel A. Adank, Simona Agata, Thomas Ahearn, Kristiina Aittomaeki, Irene L. Andrulis, Hoda Anton-Culver, Volker Arndt, Norbert Arnold, Kristan J. Aronson, Banu K. Arun, Annelie Augustinsson, Jacopo Azzollini, Daniel Barrowdale, Caroline Baynes, Heko Becher, Marina Bermisheva, Leslie Bernstein, Katarzyna Bialkowska, Carl Blomqvist, Stig E. Bojesen, Bernardo Bonanni, Ake Borg, Hiltrud Brauch, Hermann Brenner, Barbara Burwinkel, Saundra S. Buys, Trinidad Caldes, Maria A. Caligo, Daniele Campa, Brian D. Carter, Jose E. Castelao, Jenny Chang-Claude, Stephen J. Chanock, Wendy K. Chung, Kathleen B. M. Claes, Christine L. Clarke, J. Margriet Collee, Don M. Conroy, Kamila Czene, Mary B. Daly, Peter Devilee, Orland Diez, Yuan Chun Ding, Susan M. Domchek, Thilo Dork, Isabel dos-Santos-Silva, Alison M. Dunning, Miriam Dwek, Diana M. Eccles, A. Heather Eliassen, Christoph Engel, Mikael Eriksson, D. Gareth Evans, Peter A. Fasching, Henrik Flyger, Florentia Fostira, Eitan Friedman, Lin Fritschi, Debra Frost, Manuela Gago-Dominguez, Susan M. Gapstur, Judy Garber, Vanesa Garcia-Barberan, Montserrat Garcia-Closas, Jose A. Garcia-Saenz, Mia M. Gaudet, Simon A. Gayther, Andrea Gehrig, Vassilios Georgoulias, Graham G. Giles, Andrew K. Godwin, Mark S. Goldberg, David E. Goldgar, Anna Gonzalez-Neira, Mark H. Greene, Pascal Guenel, Lothar Haeberle, Eric Hahnen, Christopher A. Haiman, Niclas Hakansson, Per Hall, Ute Hamann, Patricia A. Harrington, Steven N. Hart, Wei He, Frans B. L. Hogervorst, Antoinette Hollestelle, John L. Hopper, Darling J. Horcasitas, Peter J. Hulick, David J. Hunter, Evgeny N. Imyanitov, Agnes Jager, Anna Jakubowska, Paul A. James, Uffe Birk Jensen, Esther M. John, Michael E. Jones, Rudolf Kaaks, Pooja Middha Kapoor, Beth Y. Karlan, Renske Keeman, Elza Khusnutdinova, Johanna I. Kiiski, Yon-Dschun Ko, Veli-Matti Kosma, Peter Kraft, Allison W. Kurian, Yael Laitman, Diether Lambrechts, Loic Le Marchand, Jenny Lester, Fabienne Lesueur, Tricia Lindstrom, Adria Lopez-Fernandez, Jennifer T. Loud, Craig Luccarini, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, John W. M. Martens, Noura Mebirouk, Alfons Meindl, Austin Miller, Roger L. Milne, Marco Montagna, Katherine L. Nathanson, Susan L. Neuhausen, Heli Nevanlinna, Finn C. Nielsen, Katie M. O'Brien, Olufunmilayo I. Olopade, Janet E. Olson, Hakan Olsson, Ana Osorio, Laura Ottini, Tjoung-Won Park-Simon, Michael T. Parsons, Inge Sokilde Pedersen, Beth Peshkin, Paolo Peterlongo, Julian Peto, Paul D. P. Pharoah, Kelly-Anne Phillips, Eric C. Polley, Bruce Poppe, Nadege Presneau, Miquel Angel Pujana, Kevin Punie, Paolo Radice, Johanna Rantala, Muhammad U. Rashid, Gad Rennert, Hedy S. Rennert, Mark Robson, Atocha Romero, Maria Rossing, Emmanouil Saloustros, Dale P. Sandler, Regina Santella, Maren T. Scheuner, Marjanka K. Schmidt, Gunnar Schmidt, Christopher Scott, Priyanka Sharma, Penny Soucy, Melissa C. Southey, John J. Spinelli, Zoe Steinsnyder, Jennifer Stone, Dominique Stoppa-Lyonnet, Anthony Swerdlow, Rulla M. Tamimi, William J. Tapper, Jack A. Taylor, Mary Beth Terry, Alex Teule, Darcy L. Thull, Marc Tischkowitz, Amanda E. Toland, Diana Torres, Alison H. Trainer, Therese Truong, Nadine Tung, Celine M. Vachon, Ana Vega, Joseph Vijai, Qin Wang, Barbara Wappenschmidt, Clarice R. Weinberg, Jeffrey N. Weitzel, Camilla Wendt, Alicja Wolk, Siddhartha Yadav, Xiaohong R. Yang, Drakoulis Yannoukakos, Wei Zheng, Argyrios Ziogas, Kristin K. Zorn, Sue K. Park, Mads Thomassen, Kenneth Offit, Rita K. Schmutzler, Fergus J. Couch, Jacques Simard, Georgia Chenevix-Trench, Douglas F. Easton, Nadine Andrieu, Antonis C. Antoniou
Summary: Breast cancer risk for BRCA1/BRCA2 mutation carriers varies based on genetic factors. A case-only genome-wide association study identified novel loci associated with breast cancer risk for BRCA1/BRCA2 mutation carriers.
NATURE COMMUNICATIONS
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Renata Faermann, Eitan Friedman, Orit Kaidar-Person, Malka Brodsky, Osnat Halshtok Neiman, Anat Shalmon, Michael Gotlieb, Yael Yagil, David Samocha, Dana Madorsky Feldman, Jonathan Weidenfeld, Miri Sklair-Levy
Summary: This study summarizes the experience at the largest high-risk clinic in Israel regarding breast cancer screening for pregnant and breastfeeding women who are carriers of the BRCA gene. The results show a pregnancy-associated breast cancer detection rate of 2.05%, with over half of the cases detected through screening. Therefore, despite the changes in breast tissue during pregnancy and breastfeeding, screening plays an important role in early detection, and ultrasound should be considered as a screening tool for high-risk patients.
ACADEMIC RADIOLOGY
(2023)
Article
Oncology
Neda Stjepanovic, Jan Lubinski, Pal Moller, Susan Randall Armel, William D. Foulkes, Nadine Tung, Susan L. Neuhausen, Joanne Kotsopoulos, Ping Sun, Sophie Sun, Andrea Eisen, Steven A. Narod
Summary: The prospective study on breast cancer risk in BRCA1 and BRCA2 mutation carriers aged 60 and above indicates that the risk of developing breast cancer remains high in this population. Hormone replacement therapy, family history, and oophorectomy were not associated with breast cancer risk.
BREAST CANCER RESEARCH AND TREATMENT
(2021)
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
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)
Article
Oncology
Marek Szwiec, Joanna Tomiczek-Szwiec, Wojciech Kluzniak, Dominika Wokolorczyk, Karolina Osowiecka, Robert Sibilski, Malgorzata Wachowiak, Jacek Gronwald, Helena Gronwald, Jan Lubinski, Cezary Cybulski, Steven A. Narod, Tomasz Huzarski
Summary: The study found that mutations in PALB2 and CHEK2 genes may be associated with male breast cancer in Poland. It is recommended that a molecular test for common mutations in BRCA1, BRCA2, PALB2, and CHEK2 should be offered to male breast cancer patients in Poland.
Article
Obstetrics & Gynecology
Aviya Kedmi, Luna Kadouri, Iftach Sagy, Tamar Hamburger, Gabriel Levin, Noa Zimhony-Nissim, Tamar Peretz
Summary: This study investigates the anticipation phenomenon in hereditary breast cancer patients by evaluating age at diagnosis and phenotype trends across two successive generation pairs of BRCA1/2 mutation carriers/non-carriers. The results suggest that breast cancer is diagnosed at an earlier age in successive generations among BRCA1/2 mutation carriers and non-carriers. Other factors may also play a role in influencing age at diagnosis.
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS
(2022)
Article
Medicine, General & Internal
Tauana Rodrigues Nagy, Simone Maistro, Giselly Encinas, Maria Lucia Hirata Katayama, Glaucia Fernanda de Lima Pereira, Nelson Gaburo-Junior, Lucas Augusto Moyses Franco, Ana Carolina Ribeiro Chaves de Gouvea, Maria del Pilar Estevez Diz, Luiz Antonio Senna Leite, Maria Aparecida Azevedo Koike Folgueira
Summary: The study found that the frequency of gBRCA mutations in postmenopausal Brazilian breast cancer patients was 10.2%, and the frequency of PIK3CA somatic mutations was 37% in postmenopausal patients and 17% in young patients. Additionally, 25% of both BRCA1/BRCA2 mutation carriers and non-carriers had PIK3CA somatic mutations, suggesting a potential association between the two types of mutations.
Article
Oncology
Eleni Zografos, Anna-Maria Korakiti, Angeliki Andrikopoulou, Ioannis Rellias, Constantine Dimitrakakis, Spyridon Marinopoulos, Aris Giannos, Antonios Keramopoulos, Nikolaos Bredakis, Meletios-Athanasios Dimopoulos, Flora Zagouri
Summary: This study analyzed the frequency of genetic predisposition in 20 PABC patients, revealing that 35% of patients carried pathogenic mutations in two known cancer predisposition genes (BRCA1 and CHEK2), indicating a potential significant role of genetic susceptibility in pregnancy-associated breast cancer.
Article
Radiology, Nuclear Medicine & Medical Imaging
Hadeel Ghunaim, Annouschka Laenen, Frederik De Keyzer, Julie Soens, Machteld Keupers, Sandra Postema, Patrick Neven, Chantal Van Ongeval
Summary: This study compared the imaging features of breast cancer in CHEK2, BRCA1, and BRCA2 mutation carriers. The results showed that suspicious microcalcifications were more frequently seen in CHEK2 and BRCA2 carriers, while mass lesions were less common in BRCA1 carriers. This suggests the importance of mammography in the follow-up of CHEK2 carriers.
EUROPEAN JOURNAL OF RADIOLOGY
(2022)
Article
Oncology
Julika Borde, Yael Laitman, Britta Bluemcke, Dieter Niederacher, Konstantin Weber-Lassalle, Christian Sutter, Andreas Rump, Norbert Arnold, Shan Wang-Gohrke, Judit Horvath, Andrea Gehrig, Gunnar Schmidt, Veronique Dutrannoy, Juliane Ramser, Julia Hentschel, Alfons Meindl, Christopher Schroeder, Barbara Wappenschmidt, Christoph Engel, Karoline Kuchenbaecker, Rita K. Schmutzler, Eitan Friedman, Eric Hahnen, Corinna Ernst
Summary: This study evaluates the contribution of polygenic risk scores (PRSs) to the occurrence of extreme phenotypes in female BRCA1/2 gene mutation carriers. The results show that PRS has a significant impact on early diagnosis in BRCA1 carriers and ER-negative breast cancer in BRCA2 carriers.
Article
Oncology
Tomoharu Mori, Yusuke Okamoto, Anfeng Mu, Yoshimi Ide, Akiyo Yoshimura, Noriko Senda, Yukiko Inagaki-Kawata, Masahiro Kawashima, Hiroyuki Kitao, Eriko Tokunaga, Yasuo Miyoshi, Shozo Ohsumi, Koichiro Tsugawa, Tomohiko Ohta, Toyomasa Katagiri, Shigeru Ohtsuru, Kaoru Koike, Seishi Ogawa, Masakazu Toi, Hiroji Iwata, Seigo Nakamura, Keitaro Matsuo, Minoru Takata
Summary: The ALDH2 enzyme's ability to break down aldehydes is impaired by a specific gene polymorphism, leading to alcohol flushing and an increased risk of esophageal cancer in East Asians. Recent studies suggest that this gene variant may result in higher levels of DNA damage caused by naturally occurring aldehydes. However, in breast epithelial cells, this loss of function does not appear to have an impact on the initiation and development of cancer.
Article
Biotechnology & Applied Microbiology
Sarah Edaily, Hikmat Abdel-Razeq
Summary: Most cases of breast cancer are sporadic, but 15-20% are associated with family history, some of which are inherited. Mutations in BRCA1 and BRCA2 are the most commonly encountered pathogenic germline variants (PGVs). Testing for PGVs is commonly done using multi-gene panel sequencing. The management of BRCA-positive breast cancers has shifted towards risk-reducing interventions and special treatment regimens.
ONCOTARGETS AND THERAPY
(2022)
Article
Medicine, Research & Experimental
Dorra Ben Ayed-Guerfali, Wala Ben Kridis-Rejab, Nihel Ammous-Boukhris, Wajdi Ayadi, Slim Charfi, Afef Khanfir, Tahia Sellami-Boudawara, Mounir Frikha, Jamel Daoud, Raja Mokdad-Gargouri
Summary: The study revealed a 14.17% frequency of BRCA germline mutations in Tunisian patients with high risk of breast/ovarian cancer, with some recurrent mutations found in a significant proportion of familial cases of breast and ovarian cancer.
JOURNAL OF TRANSLATIONAL MEDICINE
(2021)
Article
Oncology
Delal Akdeniz, Mark van Barele, Bernadette A. M. Heemskerk-Gerritsen, Ewout W. Steyerberg, Michael Hauptmann, Irma van de Beek, Klaartje van Engelen, Marijke R. Wevers, Encarnacion B. Gomez Garcia, Margreet G. E. M. Ausems, Lieke P. Berger, Christi J. van Asperen, Muriel A. Adank, Margriet J. Collee, Denise J. Stommel-Jenner, Agnes Jager, Marjanka K. Schmidt, Maartje J. Hooning
Summary: Chemotherapy shows significant risk reduction for contralateral breast cancer in BRCA1 carriers, especially within the first 5 years. Anthracyclines and the combination with taxanes are associated with substantial risk reduction in this population.
Article
Oncology
Teresa Macarulla, Roberto Pazo-Cid, Carmen Guillen-Ponce, Rafael Lopez, Ruth Vera, Margarita Reboredo, Andres Munoz Martin, Fernando Rivera, Roberto Diaz Beveridge, Adelaida La Casta, Jose Martin Valades, Joaquina Martinez-Galan, Immaculada Ales, Javier Sastre, Sofia Perea, Manuel Hidalgo
JOURNAL OF CLINICAL ONCOLOGY
(2019)
Article
Gastroenterology & Hepatology
Fernando Rivera, Manuel Benavides, Javier Gallego, Carmen Guillen-Ponce, Jose Lopez-Martin, Marc Kung
Article
Multidisciplinary Sciences
A. Borrero-Palacios, A. Cebrian, M. T. Gomez del Pulgar, R. Garcia-Carbonero, P. Garcia, E. Aranda, E. Elez, R. Lopez-Lopez, A. Cervantes, M. Valladares, C. Nadal, J. M. Vieitez, C. Guillen-Ponce, J. Rodriguez, I Hernandez, J. L. Garcia, R. Vega-Bravo, A. Puime-Otin, J. Martinez-Useros, L. Del Puerto-Nevado, R. Rincon, M. Rodriguez-Remirez, F. Rojo, J. Garcia-Foncillas
SCIENTIFIC REPORTS
(2019)
Article
Oncology
Elisa Conde, Alejandro Pascual, Daniel Prieto-Cuadra, Val F. Laza, Javier Molina-Cerrillo, Miren Edurne Ramos-Munoz, Esperanza Macarena Rodriguez-Serrano, Jose Luis Soto, Alfredo Carrato, Maria Laura Garcia-Bermejo, Carmen Guillen-Ponce
Review
Oncology
J. Feliu, V. Heredia-Soto, R. Girones, B. Jimenez-Munarriz, J. Saldana, C. Guillen-Ponce, M. J. Molina-Garrido
CLINICAL & TRANSLATIONAL ONCOLOGY
(2020)
Correction
Multidisciplinary Sciences
A. Borrero-Palacios, A. Cebrian, M. T. Gomez del Pulgar, R. Garcia-Carbonero, P. Garcia-Alfonso, E. Aranda, E. Elez, R. Lopez-Lopez, A. Cervantes, M. Valladares, C. Nadal, J. M. Vieitez, C. Guillen-Ponce, J. Rodriguez, I. Hernandez, J. L. Garcia, R. Vega-Bravo, A. Puime-Otin, J. Martinez-Useros, L. Del Puerto-Nevado, R. Rincon, M. Rodriguez-Remirez, F. Rojo, J. Garcia-Foncillas
SCIENTIFIC REPORTS
(2019)
Article
Oncology
C. Guillen-Ponce, E. Lastra, I Lorenzo-Lorenzo, T. Martin Gomez, R. Morales Chamorro, A. B. Sanchez-Heras, R. Serrano, M. C. Soriano Rodriguez, J. L. Soto, L. Robles
CLINICAL & TRANSLATIONAL ONCOLOGY
(2020)
Article
Pathology
Esther Moreno, Juan M. Rosa-Rosa, Tamara Caniego-Casas, Ignacio Ruz-Caracuel, Cristian Perna, Carmen Guillen, Jose Palacios
DIAGNOSTIC PATHOLOGY
(2020)
Article
Geriatrics & Gerontology
Pilar Garcia-Alfonso, Eduardo Diaz-Rubio, Albert Abad, Alfredo Carrato, Bartomeu Massuti, Maria Jose Ortiz-Morales, Jose Luis Manzano Mozo, Andres Munoz, Gema Duran, Javier Sastre, Maria Jose Safont, Reyes Ferreiro, Fernando Rivera, Encarnacion Gonzalez, Manuel Valladares-Ayerbes, Cristina Gravalos, Vicente Alonso-Orduna, Jose Maria Vieitez, Alfonso Yubero, Enrique Aranda
Summary: In older patients with mCRC, biologicals combined with chemotherapy as a first-line treatment option have comparable efficacy to younger patients, but older patients have a shorter overall survival and are more likely to experience treatment-related adverse events.
Article
Oncology
Mark A. Jenkins
Summary: The study identified significant familial risk factors affecting colorectal cancer risk for Lynch syndrome carriers, resulting in a wide variation in risk between carriers of the same gene. This highlights the importance of personalized risk assessments for precision prevention and early detection of colorectal cancer in individuals with Lynch syndrome.
Article
Oncology
Rocio Garcia-Carbonero, Miriam Bazan-Peregrino, Marta Gil-Martin, Rafael Alvarez, Teresa Macarulla, Maria C. Riesco-Martinez, Helena Verdaguer, Carmen Guillen-Ponce, Marti Farrera-Sal, Rafael Moreno, Ana Mato-Berciano, Maria Victoria Maliandi, Silvia Torres-Manjon, Marcel Costa, Natalia del Pozo, Jaime Martinez de Villarreal, Francisco X. Real, Noemi Vidal, Gabriel Capella, Ramon Alemany, Emma Blasi, Carmen Blasco, Manel Cascallo, Ramon Salazar
Summary: The study evaluates the safety and efficacy of VCN-01 adenovirus in patients with advanced cancer. The results show promising biological and clinical activity when administered in combination with nab-paclitaxel plus gemcitabine.
JOURNAL FOR IMMUNOTHERAPY OF CANCER
(2022)
Article
Oncology
Alfredo Carrato, Jose Maria Vieitez, Manuel Benavides, Mercedes Rodriguez-Garrote, Alfredo Castillo, Gema Duran Ogalla, Laura Garcia Bermejo, Inmaculada Ruiz de Mena, Carmen Guillen-Ponce, Enrique Aranda
EUROPEAN JOURNAL OF CANCER
(2020)
Article
Oncology
Manuel Benavides, Eduardo Diaz-Rubio, Alfredo Carrato, Albert Abad, Carmen Guillen, Pilar Garcia-Alfonso, Silvia Gil, Maria Teresa Cano, Maria Jose Safont, Cristina Gravalos, Jose Luis Manzano, Antonio Sanchez, Julia Alcaide, Rafael Lopez, Bartomeu Massuti, Javier Sastre, Eva Martinez, Pilar Escudero, Miguel Mendez, Enrique Aranda
Meeting Abstract
Biochemistry & Molecular Biology
E. Damaso, R. Ferrer-Avargues, A. Castillejo, M. Castillejo, A. Sanchez-Heras, C. Guillen-Ponce, J. Soto
EUROPEAN JOURNAL OF HUMAN GENETICS
(2019)
Meeting Abstract
Oncology
A. Barquin Garcia, J. Serrano Domingo, C. Saavedra Serrano, V. Albarran Artahona, M. Villamayor Delgado, O. Martinez Saez, J. Molina Cerrillo, R. Martin Huertas, E. Corral de la Fuente, R. Ferreiro Monteagudo, M. Rodriguez Garrote, V. Pachan Olmos, M. Vaz, P. Reguera Puertas, C. Guillen-Ponce, A. Carrato, F. Longo Munoz
ANNALS OF ONCOLOGY
(2018)