Article
Multidisciplinary Sciences
Harunori Honjoh, Michihiro Tanikawa, Osamu Wada-Hiraike, Katsutoshi Oda, Hirofumi Inaba, Asako Kukita, Yoshiko Kawata, Misako Kusakabe, Saki Tsuchimochi, Ayumi Taguchi, Yuichiro Miyamoto, Kenbun Sone, Tetsushi Tsuruga, Mayuyo Mori-Uchino, Yoko Matsumoto, Yutaka Osuga
Summary: This study reveals that the transcription factor MED1 plays a role in the regulation of the HR pathway and R-loop processing. MED1 depletion impairs the recruitment of HR genes to DNA damage site and decreases HR activity.
SCIENTIFIC REPORTS
(2022)
Article
Medicine, Research & Experimental
Parasvi S. Patel, Karan Joshua Abraham, Kiran Kumar Naidu Guturi, Marie-Jo Halaby, Zahra Khan, Luis Palomero, Brandon Ho, Shili Duan, Jonathan St-Germain, Arash Algouneh, Francesca Mateo, Samah El Ghamrasni, Haithem Barbour, Daniel R. Barnes, Jonathan Beesley, Otto Sanchez, Hal K. Berman, Grant W. Brown, El Bachir Affar, Georgia Chenevix-Trench, Antonis C. Antoniou, Cheryl H. Arrowsmith, Brian Raught, Miquel Angel Pujana, Karim Mekhail, Anne Hakem, Razqallah Hakem
Summary: Germline mutations in BRCA1 and BRCA2 genes increase the risk of breast and ovarian cancer, while the loss of RNF168 can protect Brca1-mutant mice against mammary tumorigenesis. Studies have shown that RNF168 deficiency leads to accumulation of R-loops in BRCA1/2-mutant breast and ovarian cancer cells, causing cell death.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Review
Oncology
Rehna Krishnan, Parasvi S. Patel, Razqallah Hakem
Summary: Mutations in BRCA1 increase the risk of breast, ovarian, and other cancers, and contribute to the metastatic and aggressive nature of tumor cells.
Article
Biochemistry & Molecular Biology
John K. Barrows, George Fullbright, David T. Long
Summary: BRCA1, known as a master regulator of genome integrity, is involved in chromatin remodeling and transcription regulation besides DNA repair. Research shows that BRCA1-BARD1 suppresses transcription initiation through histone intermediate, altering histone acetylation and recruiting BRD4 to establish a functional relationship between known (BRCA1) and emerging (BRD4) regulators of genome integrity.
NUCLEIC ACIDS RESEARCH
(2021)
Article
Biochemical Research Methods
Xiaofang Zheng, Sijia Chang, Yini Liu, Xiaoxia Dai, Changjun You
Summary: The generation of deoxyinosine (dI) in DNA is a significant cause of genetic mutations, which can lead to cancer and other human diseases. Identifying and characterizing dI-binding proteins is crucial for understanding the biological effects of dI. In this study, a mass spectrometry-based proteomics approach was used to identify cellular proteins that interact with dI-bearing DNA. The results revealed that human mitochondrial heat shock protein 60 (HSPD1) can bind to dI in DNA and play a role in DNA damage response and dI regulation in human cells.
JOURNAL OF PROTEOME RESEARCH
(2023)
Article
Genetics & Heredity
Mathias Schwartz, Sabrina Ibadioune, Albain Chansavang, Sophie Vacher, Sandrine M. Caputo, Helene Delhomelle, Jennifer Wong, Khadija Abidallah, Virginie Moncoutier, Veronique Becette, Tatiana Popova, Voreak Suybeng, Antoine De Pauw, Marc-Henri Stern, Chrystelle Colas, Emmanuelle Mouret-Fourme, Dominique Stoppa-Lyonnet, Lisa Golmard, Ivan Bieche, Julien Masliah-Planchon
Summary: Mosaic BRCA1 promoter methylation is associated with an increased risk of early-onset breast cancer, triple-negative breast cancer, and ovarian cancer. This de novo event could contribute to hereditary breast/ovarian cancer pedigrees, especially in families with affected relatives showing high prevalence of BRCA1meth. Detection of BRCA1meth may indicate involvement of BRCA1 in tumorigenesis in affected probands.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Samuel R. Witus, Lisa M. Tuttle, Wenjing Li, Alex Zelter, Meiling Wang, Klaiten E. Kermoade, Damien B. Wilburn, Trisha N. Davis, Peter S. Brzovic, Weixing Zhao, Rachel E. Klevit
Summary: BRCA1/BARD1 is a tumor suppressor gene with functions in DNA damage repair and transcriptional regulation. It interacts with nucleosomes and facilitates ubiquitylation of histone H2A. Our study reveals novel interactions involving an intrinsically disordered DNA-binding region of BARD1 that support H2A ubiquitylation and recruitment to chromatin and DNA damage sites. These interactions contribute to cell survival and identify a network of BARD1-nucleosome interactions on chromatin.
Review
Pharmacology & Pharmacy
Maria Russi, Domenico Marson, Alice Fermeglia, Suzana Aulic, Maurizio Fermeglia, Erik Laurini, Sabrina Pricl
Summary: BRCA1 and BARD1 play crucial roles in various biological functions, but mutations in their encoding genes increase the risk of developing cancer and other malignancies. Understanding their functional mechanisms not only helps prevent disease occurrences but also facilitates the development of new targeted therapeutics.
PHARMACOLOGY & THERAPEUTICS
(2022)
Article
Medicine, General & Internal
Andrew N. J. Tutt, Judy E. Garber, Bella Kaufman, Giuseppe Viale, Debora Fumagalli, Priya Rastogi, Richard D. Gelber, Evandro de Azambuja, Anitra Fielding, Judith Balmana, Susan M. Domchek, Karen A. Gelmon, Simon J. Hollingsworth, Larissa A. Korde, Barbro Linderholm, Hanna Bandos, E. Senkus, Jennifer M. Suga, Z. Shao, Andrew W. Pippas, Zbigniew Nowecki, Tomasz Huzarski, Patricia A. Ganz, Peter C. Lucas, Nigel Baker, Sibylle Loibl, Robin McConnell, Martine Piccart, Rita Schmutzler, Guenther G. Steger, Joseph P. Costantino, Amal Arahmani, Norman Wolmark, Eleanor McFadden, Vassiliki Karantza, Sunil R. Lakhani, Greg Yothers, Christine Campbell, Charles E. Geyer
Summary: In patients with high-risk, HER2-negative early breast cancer and germline BRCA1 or BRCA2 pathogenic or likely pathogenic variants, adjuvant olaparib after completion of local treatment and neoadjuvant or adjuvant chemotherapy was associated with significantly longer survival free of invasive or distant disease than placebo. Olaparib had limited effects on global patient-reported quality of life.
NEW ENGLAND JOURNAL OF MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Arvind Panday, Nicholas A. Willis, Rajula Elango, Francesca Menghi, Erin E. Duffey, Edison T. Liu, Ralph Scully
Summary: The study reveals that the FANCM gene encodes a multi-domain scaffolding and motor protein that regulates repair pathway choice at stalled replication forks, and its ATPase function may be a promising target for therapy of BRCA1-linked cancer.
Article
Cell Biology
Ilaria Ceppi, Elda Cannavo, Helene Bret, Rosa Camarillo, Francesca Vivalda, Roshan Singh Thakur, Amador Romero-Franco, Alessandro A. Sartori, Pablo Huertas, Raphael Guerois, Petr Cejka
Summary: In this study, the researchers used AlphaFold2 to identify a separation-of-function mutant of CtIP, CtIP-F728E-Y736E, which can still work with MRN but cannot stimulate ssDNA degradation by DNA2. The findings support a model in which the phosphorylation of CtIP by CDK activates DNA resection in the S phase, while the phosphorylation of CtIP by PLK1 disrupts its stimulation of DNA2, attenuating long-range resection later in the cell cycle.
GENES & DEVELOPMENT
(2023)
Article
Biochemistry & Molecular Biology
Heeyoun Bunch, Jaehyeon Jeong, Keunsoo Kang, Doo Sin Jo, Anh T. Q. Cong, Deukyeong Kim, Donguk Kim, Dong-Hyung Cho, You Mie Lee, Benjamin P. C. Chen, Matthew J. Schellenberg, Stuart K. Calderwood
Summary: The BRCA1-BARD1 complex regulates TOP2B and Pol II-mediated gene expression through phosphorylation of BRCA1 and ubiquitination of TOP2B.
Article
Oncology
Daniel H. Kwon, Jonathan Chou, Steven M. Yip, Melissa A. Reimers, Li Zhang, Francis Wright, Mallika S. Dhawan, Hala T. Borno, Arpita Desai, Rahul R. Aggarwal, Alexander W. Wyatt, Eric J. Small, Ajjai S. Alva, Kim N. Chi, Felix Y. Feng, Vadim S. Koshkin
Summary: DDRm mutations are common in mCRPC patients. BRCA1/2 mutations are associated with superior responses to standard therapies, while ATM or CDK12 mutations are linked to inferior responses. Specific DDRm type and first-line treatments do not independently predict OS. Carboplatin-based chemotherapy after first-line treatment is correlated with the longest OS.
Article
Oncology
Thibaut S. Matis, Nadia Zayed, Bouchra Labraki, Manon de Ladurantaye, Theophane A. Matis, Jose Camacho Valenzuela, Nancy Hamel, Adrienne Atayan, Barbara Rivera, Yuval Tabach, Patricia N. Tonin, Alexandre Orthwein, Anne-Marie Mes-Masson, Zaki El Haffaf, William D. Foulkes, Paz Polak
Summary: The study found that variants in underexplored homologous recombination repair (HR) genes are unlikely to explain a large fraction of unsolved multiple-case breast cancer (BC) families, providing limited help in solving familial BC cases.
Article
Biology
Ilirjana Bajrami, Callum Walker, Dragomir B. Krastev, Daniel Weekes, Feifei Song, Andrew J. Wicks, John Alexander, Syed Haider, Rachel Brough, Stephen J. Pettitt, Andrew N. J. Tutt, Christopher J. Lord
Summary: The study investigated the synthetic lethality between BRCA gene defects and inhibition of two sirtuin genes, SIRT1 or SIRT6, which was associated with replication stress and increased PARylation. The authors demonstrated that this synthetic lethality could be reversed by genetic ablation of PARP1 or HPF1.
COMMUNICATIONS BIOLOGY
(2021)
Article
Oncology
Linda A. J. Hendricks, Nicoline Hoogerbrugge, Arjen R. Mensenkamp, Joan Brunet, Roser Lleuger-Pujol, Hildegunn Hoberg-Vetti, Marianne Tveit Haavind, Giovanni Innella, Daniela Turchetti, Stefan Aretz, Isabel Spier, Marc Tischkowitz, Arne Jahn, Thera P. Links, Maran J. W. Olderode-Berends, Ana Blatnik, Edward M. Leter, D. Gareth Evans, Emma R. Woodward, Verena Steinke-Lange, Violetta C. Anastasiadou, Chrystelle Colas, Marie-Charlotte Villy, Patrick R. Benusiglio, Anna Gerasimenko, Valeria Barili, Maud Branchaud, Claude Houdayer, Bianca Tesi, M. Omer Yazicioglu, Rachel S. van der Post, Janneke H. M. Schuurs-Hoeijmakers, Janet R. Vos, Liselotte P. van Hest, Muriel A. Adank, Floor Duijkers, Maartje Nielsen, Katja C. J. Verbeek, Yvette van Ierland, Jacques C. Giltay
Summary: PTEN Hamartoma Tumor Syndrome (PHTS) is a rare syndrome with a broad phenotypic spectrum, including increased risks of breast, endometrial, and thyroid cancer. This study aimed to provide more accurate and personalized cancer risks. The results showed that PHTS patients, especially females, have a significantly higher risk of breast, endometrial, and thyroid cancer.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2023)
Article
Oncology
Nuria Duenas, Matilde Navarro, Xavier Sanjuan, Nuria Ruiz, Silvia Iglesias, Xavier Matias-Guiu, Jordi Guardiola, Esther Kreisler, Sebastiano Biondo, Sara Gonzalez, Raquel Legido, Ana Blanco, Silvia Navarro, Leyre Asiain, Cristina Santos, Gabriel Capella, Marta Pineda, Joan Brunet
Summary: This study evaluates the yield of Lynch syndrome (LS) screening in colorectal cancer (CRC) in a single-referral centre and identifies the barriers to its effective implementation. LS suspected individuals were identified and underwent genetic analysis. Ten LS individuals were diagnosed, leading to cascade testing in their at-risk relatives.
CANCER EPIDEMIOLOGY
(2023)
Article
Oncology
Elena Llano, Anne Laure Todeschini, Natalia Felipe-Medina, Maria D. Corte-Torres, Yazmine B. Condezo, Manuel Sanchez-Martin, Sara Lopez-Tamargo, Aurora Astudillo, Xose S. Puente, Alberto M. Pendas, Reiner A. Veitia
Summary: This study utilized a mouse model carrying a FOXL2 gene mutation to demonstrate that FOXL2 C134W mutation is associated with the development of malignant ovarian tumors, and the analysis of transcriptomic data suggests that FOXL2-C134W is the only driver mutation for tumor development.
Article
Biochemistry & Molecular Biology
Gisella Figlioli, Amandine Billaud, Thomas U. Ahearn, Natalia N. Antonenkova, Heiko Becher, Matthias W. Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Marinus J. Blok, Natalia Bogdanova, Bernardo Bonanni, Barbara Burwinkel, Nicola J. Camp, Archie Campbell, Jose E. Castelao, Melissa H. Cessna, Stephen J. Chanock, Kamila Czene, Peter Devilee, Thilo Doerk, Christoph Engel, Mikael Eriksson, Peter A. Fasching, Jonine D. Figueroa, Marike Gabrielson, Manuela Gago-Dominguez, Montserrat Garcia-Closas, Anna Gonzalez-Neira, Felix Grassmann, Pascal Guenel, Melanie Gundert, Andreas Hadjisavvas, Eric Hahnen, Per Hall, Ute Hamann, Patricia A. Harrington, Wei He, Peter Hillemanns, Antoinette Hollestelle, Maartje J. Hooning, Reiner Hoppe, Anthony Howell, Keith Humphreys, Agnes Jager, Anna Jakubowska, Elza K. Khusnutdinova, Yon-Dschun Ko, Vessela N. Kristensen, Annika Lindblom, Jolanta Lissowska, Jan Lubinski, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, Dimitrios Mavroudis, William G. Newman, Nadia Obi, Mihalis Panayiotidis, Muhammad U. Rashid, Valerie Rhenius, Matti A. Rookus, Emmanouil Saloustros, Elinor J. Sawyer, Rita K. Schmutzler, Mitul Shah, Reijo Sironen, Melissa C. Southey, Maija Suvanto, Rob A. E. M. Tollenaar, Ian Tomlinson, Therese Truong, Lizet E. van der Kolk, Elke M. van Veen, Barbara Wappenschmidt, Xiaohong R. Yang, Manjeet K. Bolla, Joe Dennis, Alison M. Dunning, Douglas F. Easton, Michael Lush, Kyriaki Michailidou, Paul D. P. Pharoah, Qin Wang, Muriel A. Adank, Marjanka K. Schmidt, Irene L. Andrulis, Jenny Chang-Claude, Heli Nevanlinna, Georgia Chenevix-Trench, D. Gareth Evans, Roger L. Milne, Paolo Radice, Paolo Peterlongo
Summary: Evidence from the BRIDGES study suggests that germline protein truncating variants (PTVs) in FANCM are associated with increased risk of ER-negative and triple-negative breast cancer (TNBC), particularly for those with a family history. This study further investigates the association between FANCM missense variants (MVs) and breast cancer risk using the BRIDGES study, analyzing a total of 689 MVs. The results indicate that FANCM MVs may be low/moderate risk factors for ER-negative and TNBC subtypes of breast cancer.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Oncology
Marco Tagliamento, Alessandra Gennari, Matteo Lambertini, Ramon Salazar, Nadia Harbeck, Lucia Del Mastro, Juan Aguilar-Company, Mark Bower, Rachel Sharkey, Alessia Dalla Pria, Andrea Plaja, Amanda Jackson, Jasmine Handford, Ailsa Sita-Lumsden, Clara Martinez-Vila, Marta Matas, Ana Miguel Rodriguez, Bruno Vincenzi, Giuseppe Tonini, Alexia Bertuzzi, Joan Brunet, Paolo Pedrazzoli, Francesca D'Avanzo, Federica Biello, Alasdair Sinclair, Alvin J. X. Lee, Sabrina Rossi, Gianpiero Rizzo, Oriol Mirallas, Isabel Pimentel, Maria Iglesias, Ana Sanchez de Torre, Annalisa Guida, Rossana Berardi, Alberto Zambelli, Carlo Tondini, Marco Filetti, Francesca Mazzoni, Uma Mukherjee, Nikolaos Diamantis, Alessandro Parisi, Avinash Aujayeb, Aleix Prat, Michela Libertini, Salvatore Grisanti, Maura Rossi, Federica Zoratto, Daniele Generali, Cristina Saura, Gary H. Lyman, Nicole M. Kuderer, David J. Pinato, Alessio Cortellini
Summary: Although breast cancer patients have lower mortality rates from COVID-19, it is important to evaluate the impact of the pandemic in different phases and the effectiveness of vaccination to inform clinical practice.
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Article
Oncology
Jose Garcia-Pelaez, Rita Barbosa-Matos, Silvana Lobo, Alexandre Dias, Luzia Garrido, Sergio Castedo, Sonia Sousa, Hugo Pinheiro, Liliana Sousa, Rita Monteiro, Joaquin J. Maqueda, Susana Fernandes, Fatima Carneiro, Nadia Pinto, Carolina Lemos, Carla Pinto, Manuel R. Teixeira, Stefan Aretz, Svetlana Bajalica-Lagercrantz, Judith Balmana, Ana Blatnik, Patrick R. Benusiglio, Maud Blanluet, Vincent Bours, Hilde Brems, Joan Brunet, Daniele Calistri, Gabriel Capella, Sergio Carrera, Chrystelle Colas, Karin Dahan, Robin de Putter, Camille Desseignes, Elena Dominguez-Garrido, Conceicao Egas, D. Gareth Evans, Damien Feret, Eleanor Fewings, Rebecca C. Fitzgerald, Florence Coulet, Maria Garcia-Barcina, Maurizio Genuardi, Lisa Golmard, Karl Hackmann, Helen Hanson, Elke Holinski-Feder, Robert Huneburg, Mateja Krajc, Kristina Lagerstedt-Robinson, Conxi Lazaro, Marjolijn J. L. Ligtenberg, Cristina Martinez-Bouzas, Sonia Merino, Genevieve Michils, Srdjan Novakovic, Ana Patino-Garcia, Guglielmina Nadia Ranzani, Evelin Schrock, Ines Silva, Catarina Silveira, Jose L. Soto, Isabel Spier, Verena Steinke-Lange, Gianluca Tedaldi, Maria-Isabel Tejada, Emma R. Woodward, Marc Tischkowitz, Nicoline Hoogerbrugge, Carla Oliveira
Summary: This study analyzed families carrying rare CDH1 variants, comparing the cancer spectrum in carriers of pathogenic or likely pathogenic variants (PV/LPV) or missense variants of unknown significance, and evaluated the performance of expanded criteria for CDH1 testing. The results showed that PV/LPV carriers were positively associated with lobular breast cancer, diffuse gastric cancer, and gastric cancer, while missense variants of unknown significance did not show this positive association.
Editorial Material
Biochemistry & Molecular Biology
Isabel Quintana, Mariona Terradas, Pilar Mur, Iris B. A. W. te Paske, Sophia Peters, Isabel Spier, Verena Steinke-Lange, Claudia Maestro, David Torrents, Montserrat Puiggros, Romina Royo, Raul Tonda, Genis Parra, Davide Piscia, Sergi Beltran, Matilde Navarro, Virginia Pinol, Joan Brunet, Noemi Gonzalez-Abuin, Gemma Aiza, Anna Sommer, Yasmijn van Herwaarden, Galuh Astuti, Elke Holinski-Feder, Nicoline Hoogerbrugge, Richarda M. de Voer, Stefan Aretz, Gabriel Capella, Laura Valle
Review
Medicine, General & Internal
Charlotte Carton, D. Gareth Evans, Ignacio Blanco, Reinhard E. Friedrich, Rosalie E. Ferner, Said Farschtschi, Hector Salvador, Amedeo A. Azizi, Victor Mautner, Claas Roehl, Sirkku Peltonen, Stavros Stivaros, Eric Legius, Rianne Oostenbrink
Summary: This study aims to integrate information on NF1-associated tumors to assist healthcare professionals in tumor surveillance of NF1 individuals. Personalized and targeted tumor management proposals have been defined to ensure appropriate care for those in need.
Article
Biochemical Research Methods
Elisabet Munte, Lidia Feliubadalo, Marta Pineda, Eva Tornero, Maribel Gonzalez, Jose Marcos Moreno-Cabrera, Carla Roca, Joan Bales Rubio, Laura Arnaldo, Gabriel Capella, Jose Luis Mosquera, Conxi Lazaro
Summary: The study developed a software package called vaRHC to assist in variant classification in hereditary cancer. The package collects information from diverse databases and assigns or denies different types of evidence based on the latest international guidelines for specific genes or general criteria for other genes. It provides an automated variant classification using a Bayesian metastructure and considers CanVIG-UK recommendations, showing a better criteria assignment than a similar tool called Cancer SIGVAR. The source code of the package can be accessed on the GitHub repository and will be submitted to CRAN soon.
Article
Oncology
Denise G. O'Mahony, Susan J. Ramus, Melissa C. Southey, Nicola S. Meagher, Andreas Hadjisavvas, Esther M. John, Ute Hamann, Evgeny N. Imyanitov, Irene L. Andrulis, Priyanka Sharma, Mary B. Daly, Christopher R. Hake, Jeffrey N. Weitzel, Anna Jakubowska, Andrew K. Godwin, Adalgeir Arason, Anita Bane, Jacques Simard, Penny Soucy, Maria A. Caligo, Phuong L. Mai, Kathleen B. M. Claes, Manuel R. Teixeira, Wendy K. Chung, Conxi Lazaro, Peter J. Hulick, Amanda E. Toland, Inge Sokilde Pedersen, Susan L. Neuhausen, Ana Vega, Miguel de la Hoya, Heli Nevanlinna, Mallika Dhawan, Valentina Zampiga, Rita Danesi, Liliana Varesco, Viviana Gismondi, Valerio Gaetano Vellone, Paul A. James, Ramunas Janavicius, Liene Nikitina-Zake, Finn Cilius Nielsen, Thomas van Overeem Hansen, Tanja Pejovic, Ake Borg, Johanna Rantala, Kenneth Offit, Marco Montagna, Katherine L. Nathanson, Susan M. Domchek, Ana Osorio, Maria J. Garcia, Beth Y. Karlan, Anna De Fazio, David Bowtell, Lesley McGuffog, Goska Leslie, Michael T. Parsons, Thilo Doerk, Lisa-Marie Speith, Elizabeth Santana dos Santos, Alexandre Andre B. A. da Costa, Paolo Radice, Paolo Peterlongo, Laura Papi, Christoph Engel, Eric Hahnen, Rita K. Schmutzler, Barbara Wappenschmidt, Douglas F. Easton, Marc Tischkowitz, Christian F. Singer, Yen Yen Tan, Alice S. Whittemore, Weiva Sieh, James D. Brenton, Drakoulis Yannoukakos, Florentia Fostira, Irene Konstantopoulou, Jana Soukupova, Michal Vocka, Georgia Chenevix-Trench, Paul D. P. Pharoah, Antonis C. Antoniou, David E. Goldgar, Amanda B. Spurdle, Kyriaki Michailidou, Marian J. E. Mourits, Fabienne Lesueur
Summary: This study assessed the utility of ovarian tumour characteristics as predictors of BRCA1 and BRCA2 variant pathogenicity and provided evidence for improved classification and clinical management of carriers.
BRITISH JOURNAL OF CANCER
(2023)
Article
Genetics & Heredity
Adria Lopez-Fernandez, Guillermo Villacampa, Monica Salinas, Elia Grau, Esther Darder, Estela Carrasco, Ares Solanes, Angela Velasco, Maite Torres, Elisabet Munte, Silvia Iglesias, Sara Torres-Esquius, Noemi Tuset, Orland Diez, Conxi Lazaro, Joan Brunet, Sergi Corbella, Judith Balmana
Summary: This study aims to analyze the psychological impact of genetic testing and to identify the profile of individuals at higher risk. Factors such as high neuroticism score, high baseline cancer worry, and a positive genetic test result were found to be independently associated with higher psychological impact. The highest risk profile consisted of women with high levels of neuroticism and a positive result. Uncertainty was mainly associated with high neuroticism levels, regardless of the genetic test result. A holistic approach to personalized genetic counseling should include the assessment of personality dimensions.
JOURNAL OF GENETIC COUNSELING
(2023)
Article
Oncology
Agostino Bucalo, Giulia Conti, Virginia Valentini, Carlo Capalbo, Alessandro Bruselles, Marco Tartaglia, Bernardo Bonanni, Daniele Calistri, Anna Coppa, Laura Cortesi, Giuseppe Giannini, Viviana Gismondi, Siranoush Manoukian, Livia Manzella, Marco Montagna, Paolo Peterlongo, Paolo Radice, Antonio Russo, Maria Grazia Tibiletti, Daniela Turchetti, Alessandra Viel, Ines Zanna, Domenico Palli, Valentina Silvestri, Laura Ottini
Summary: A study conducted in Italy found that pathogenic variants in genes other than BRCA1/2 are associated with an increased risk of male breast cancer (MBC), particularly in the PALB2 and ATM genes. These findings provide valuable information for MBC patients in terms of disease prevention and decision-making.
EUROPEAN JOURNAL OF CANCER
(2023)
Article
Oncology
Ana Beatriz Sanchez-Heras, Teresa Ramon y Cajal, Marta Pineda, Elena Aguirre, Begona Grana, Isabel Chirivella, Judit Balmana, Joan Brunet
Summary: Li-Fraumeni syndrome is caused by TP53 gene heterozygous germline pathogenic variants. It is associated with a high risk of various malignant tumors in childhood and adulthood, including premenopausal breast cancer, soft tissue sarcomas and osteosarcomas, central nervous system tumors, and adrenocortical carcinomas. The concept of SLF has expanded to hereditable TP53-related cancer syndrome (hTP53rc) due to the variability of clinical manifestations, which don't always meet the classic criteria of Li-Fraumeni syndrome. Prospective studies are needed to assess genotype-phenotype characteristics and risk-adjusted recommendations.
CLINICAL & TRANSLATIONAL ONCOLOGY
(2023)
Article
Oncology
Helena Pla-Juher, Marta Pardo, Angel J. Izquierdo, Esther Darder, Anna Carbo, Elisabet Munte, Sara Torres-Esquius, Judith Balmana, Concepcion Lazaro, Joan M. Brunet, Maria-Pilar Barretina-Ginesta
Summary: The risk of endometrial cancer is not increased in BRCA1/2 carriers after RRSO, and routine hysterectomy is not recommended for these patients.
CLINICAL & TRANSLATIONAL ONCOLOGY
(2023)
