Article
Medicine, General & Internal
QiongFei Zheng, Qinli Ying, ZhengJu Ren, Qin Zhang, DongLiang Lu, HongBai Wang, WuRan Wei
Summary: Family history of prostate cancer in first-degree relatives is associated with an increased risk of breast cancer, with consistent results in subgroup analysis. Compared with no family history of prostate cancer, history of prostate cancer in first-degree relatives is associated with a slight risk of ovarian cancer. Having a family history of prostate cancer among siblings may increase the risk of ovarian cancer by 17%, while no significant association was found between family history of prostate cancer among parents and the risk of ovarian cancer.
Article
Cardiac & Cardiovascular Systems
Felicita Andreotti, Filippo Crea, Giuseppe Patti, Carol C. Shoulders, Eliano Pio Navarese, Janet Robishaw, Attilio Maseri, Charles H. Hennekens
Summary: The study found that the proportion of first-degree relatives of patients with premature cardiovascular disease having a history of heart disease is significantly higher compared to blood donors, and family histories of myocardial infarction and chronic stable angina in patients with premature CVD are higher than in patients with peripheral vascular disease.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2021)
Article
Oncology
Alexander L. R. Grewcock, Karlijn E. P. E. Hermans, Matty P. Weijenberg, Piet A. van den Brandt, Caroline Loef, Rob L. H. Jansen, Leo J. Schouten
Summary: In general, having a family history of cancer is not an independent risk factor for CUP. Some slight increase in CUP risk was observed in individuals with siblings who had cancer, particularly in those with a sister with cancer, but these findings were not statistically significant.
EUROPEAN JOURNAL OF CANCER CARE
(2021)
Article
Oncology
Traci N. Bethea, Heather M. Ochs-Balcom, Elisa V. Bandera, Alicia Beeghly-Fadiel, Fabian Camacho, Deanna Chyn, Emily K. Cloyd, Holly R. Harris, Charlotte E. Joslin, Evan Myers, Patricia G. Moorman, Lauren C. Peres, Will Rosenow, Veronica W. Setiawan, Anna H. Wu, Lynn Rosenberg, Joellen M. Schildkraut
Summary: Family history of ovarian cancer and breast cancer, especially in first-degree relatives, is strongly associated with high-grade serous ovarian carcinoma in both African American and white women, but the impact may vary by histotype among African American women.
INTERNATIONAL JOURNAL OF CANCER
(2021)
Article
Health Care Sciences & Services
Maria Rubin-Garcia, Vicente Martin, Facundo Vitelli-Storelli, Victor Moreno, Nuria Aragones, Eva Ardanaz, Jessica Alonso-Molero, Jose J. Jimenez-Moleon, Pilar Amiano, Guillermo Fernandez-Tardon, Ana Molina-Barcelo, Juan Alguacil, Maria Dolores-Chirlaque, Laura Alvarez-Alvarez, Beatriz Perez-Gomez, Trinidad Dierssen-Sotos, Rocio Olmedo-Requena, Marcela Guevara, Tania Fernandez-Villa, Marina Pollan, Yolanda Benavente
Summary: The presence of first-degree family history of colorectal cancer (CRC) doubles the risk of developing CRC, which further increases if there are two or more affected family members or if the relative was diagnosed before the age of 50. The association between family history and tumor location showed no significant differences between colon and rectum, but there was a higher risk when relatives were diagnosed at an early age (before 50 years old).
Article
Neurosciences
Steffen Wolfsgruber, Luca Kleineidam, Anne-Sophie Weyrauch, Miriam Barkhoff, Sandra Roeske, Oliver Peters, Lukas Preis, Daria Gref, Eike Jakob Spruth, Slawek Altenstein, Josef Priller, Klaus Fliessbach, Anja Schneider, Jens Wiltfang, Claudia Bartels, Frank Jessen, Franziska Maier, Emrah Duezel, Coraline Metzger, Wenzel Glanz, Katharina Buerger, Daniel Janowitz, Robert Perneczky, Boris-Stephan Rauchmann, Ingo Kilimann, Stefan Teipel, Christoph Laske, Matthias H. Munk, Nina Roy, Annika Spottke, Alfredo Ramirez, Michael T. Heneka, Frederic Brosseron, Michael Wagner
Summary: This study investigates the association between subjective cognitive decline (SCD) and cross-sectional cerebrospinal fluid (CSF) biomarker levels of Alzheimer's disease (AD), as well as cognitive decline. The results indicate that AD relatives have higher SCD-plus scores compared to healthy controls, and these scores are more strongly related to cognitive change and abnormal CSF AD biomarker levels in the AD relatives group.
JOURNAL OF ALZHEIMERS DISEASE
(2022)
Article
Medicine, Research & Experimental
Hao-Hung Tsai, Disline Manli Tantoh, Chih-Hsuan Hsiao, Ji-Han Zhong, Chih-Yi Chen, Yung-Po Liaw
Summary: This study found that both family history of gout and sex have independent and interactive effects on the development of gout. Men have a higher risk of gout compared to women, and having a family history of gout increases the risk of gout in both sexes. The highest risk of gout is observed in men who have both siblings and parents with gout.
CLINICAL AND EXPERIMENTAL MEDICINE
(2023)
Article
Hematology
David Steensma
Summary: Paul Ehrlich in 1888 described a case of aplastic anaemia in a 21-year-old woman, who presented with severe symptoms and eventually died. Re-analysis of the case suggests the possibility of an additional diagnosis of inherited bone marrow failure syndrome.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Oncology
Stella Koutros, Kathy L. Decker, Dalsu Baris, Larissa A. Pardo, Alison Johnson, G. M. Monawar Hosain, Nathaniel Rothman, Margaret R. Karagas, Molly R. Schwenn, Debra T. Silverman
Summary: Twin studies suggest a familial aggregation of bladder cancer, with individuals having a first-degree relative with bladder cancer having nearly double the risk of developing bladder cancer. Additionally, a family history of female genital cancer, melanoma, and tobacco-associated cancer also increased the risk of bladder cancer.
INTERNATIONAL JOURNAL OF CANCER
(2021)
Article
Public, Environmental & Occupational Health
Marie T. Kumerow, Juan L. Rodriguez, Shifan Dai, Katherine Kolor, Melissa Rotunno, Lucy A. Peipins
Summary: Collecting and evaluating family health history in a clinical setting can help discuss cancer risk, personalize cancer screening recommendations, and identify individuals with a potentially pathogenic variant who may benefit from genetic counseling and testing. A survey showed that around one-third of American adults reported a family history of cancer in a first-degree relative. This highlights the importance of using family history to guide discussions between healthcare providers and patients regarding cancer risk and screening options.
PREVENTIVE MEDICINE
(2022)
Article
Oncology
Kai Wang, Ola Olen, Louise Emilsson, Hamed Khalili, Jonas Halfvarson, Mingyang Song, Jonas F. Ludvigsson
Summary: This study examines the association between a history of inflammatory bowel disease (IBD) in first-degree relatives (FDRs) and the risk of colorectal cancer (CRC). The researchers conducted a case-control study in Sweden among 69,659 CRC cases and 343,032 non-CRC controls. They found that having FDRs with IBD history did not increase the risk of CRC. These findings suggest that extra screening for CRC may not be necessary in the relatives of IBD patients.
INTERNATIONAL JOURNAL OF CANCER
(2023)
Article
Endocrinology & Metabolism
Cecile Monod, Grammata Kotzaeridi, Tina Linder, Daniel Eppel, Ingo Rosicky, Valeria Filippi, Andrea Tura, Irene Hosli, Christian S. Goebl
Summary: This study aimed to investigate the relationship between family history of type 2 diabetes mellitus (T2DM) in first- and second-degree relatives in women with gestational diabetes (GDM) and the differences in metabolic characteristics at early gestation. The results showed that pregnant women with a family history of T2DM had a markedly increased risk of GDM, and the risk was even higher if both parents were affected. Therefore, family history of T2DM is an important risk factor for GDM.
ACTA DIABETOLOGICA
(2023)
Article
Gastroenterology & Hepatology
Carla J. Gargallo-Puyuelo, Angel Lanas, Patricia Carrera-Lasfuentes, Angel Ferrandez, Enrique Quintero, Marta Carrillo, Inmaculada Alonso-Abreu, Maria Asuncion Garcia-Gonzalez
Summary: Epidemiological studies suggest that having a first-degree relative with colorectal cancer (CRC) increases the risk of developing the disease. This study found significant differences in genotype distribution of CRC risk-related SNPs between first-degree relatives of CRC patients and individuals with no family history of CRC. Genotyping of CRC risk variants in first-degree relatives of CRC patients could help identify individuals at risk who may benefit from increased surveillance and CRC screening programs.
CLINICAL AND TRANSLATIONAL GASTROENTEROLOGY
(2021)
Article
Medicine, General & Internal
Mingyang Song, Louise Emilsson, Bjorn Roelstraete, Jonas F. Ludvigsson
Summary: After adjusting for family history of CRC, siblings and children of patients with colorectal polyps are still at higher risk of CRC, especially early onset CRC. The association between family history of polyps and CRC risk is strengthened by the increasing number of first degree relatives with polyps and decreasing age at polyp diagnosis. Early screening for CRC might be considered for first degree relatives of patients with polyps.
BMJ-BRITISH MEDICAL JOURNAL
(2021)
Article
Oncology
Shao-Hua Chen, Jun-E Liu, Dong-Mei Guo, Ya-Li Su, Yan-Fei Liu
Summary: This study examined the protective behavioral strategies used by female first-degree relatives of breast cancer survivors to cope with the risk of breast cancer. The results showed that these relatives employed different coping strategies influenced by individual and external factors. The findings provide insights for healthcare professionals to design targeted interventions based on the individual circumstances of first-degree relatives, aiming to mitigate breast cancer risk in this group through healthy lifestyle choices.
EUROPEAN JOURNAL OF ONCOLOGY NURSING
(2022)
Article
Multidisciplinary Sciences
Felipe Antonio de Oliveira Garcia, Edilene Santos de Andrade, Henrique de Campos Reis Galvao, Cristina da Silva Sabato, Natalia Campacci, Andre Escremin de Paula, Adriane Feijo Evangelista, Iara Viana Vidigal Santana, Matias Eliseo Melendez, Rui Manuel Reis, Edenir Inez Palmero
Summary: Family colorectal cancer type X (FCCTX) is a heterogeneous colorectal cancer predisposition syndrome with unknown genetic etiology. This study conducted germline exome sequencing on cancer-affected patients from families at risk for FCCTX, and identified rare and potentially pathogenic variants in known hereditary cancer genes, putative FCCTX candidate genes, and other cancer-related genes. These findings provide important clues for understanding the genetic basis of FCCTX.
SCIENTIFIC REPORTS
(2022)
Review
Neurosciences
Julia A. Gomes, Gabriela E. Wachholz, Juliano A. Boquett, Fernanda S. L. Vianna, Lavinia Schuler-Faccini, Lucas R. Fraga
Summary: This systematic review evaluates the molecular mechanisms of Zika virus teratogenesis in animal models. The studies found that Zika virus exposure leads to microcephaly, reduced cortex thickness, and growth restriction in embryos. Commonly altered pathways include upregulated immune response pathways and downregulated pathways involved in neurodevelopment.
MOLECULAR NEUROBIOLOGY
(2023)
Article
Genetics & Heredity
Amanda Bingaman, Christine Waggoner, Sara M. Andrews, Diana Pangonis, Marie Trad, Roberto Giugliani, Ruben Giorgino, Jeanine Jarnes, Rojan Vakili, Victoria Ballard, Holly L. Peay
Summary: GM1-gangliosidosis (GM1) is a rare neurodegenerative disorder that leads to early mortality and progressive decline of physical skills and cerebral functioning. This study is the first to explore the priorities of parents of children with pediatric onset forms of GM1. The study identifies the symptoms most critical to caregivers and provides important insights for the development of patient-focused treatments.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Psychiatry
Mirian Cohen, Luciane Nascimento Cruz, Ricardo Bertoglio Cardoso, Maria de Fatima Pessoa Militao de Albuquerque, Ulisses Ramos Montarroyos, Wayner Vieira de Souza, Ana Bernarda Ludermir, Maria Rosimery de Carvalho, Julianne Damiana da Silva Vicente, Marcelo Paulino Viegas Filho, Fanny Julia Mireille Cortes, Marina Teixeira de Siqueira Silva, Carla Menezes Cavalcante Almeida, Luana Nepomuceno Gondim Costa Lima, Maria Amelia de Sousa Mascena Veras, Carl Kendall, Ligia Regina Franco Sansigolo Kerr, Celina Maria Turchi Martelli, Suzi Alves Camey
Summary: This study aimed to assess the mental health outcomes and associated factors in healthcare workers treating COVID-19 patients in a severely affected region in Brazil. The results showed a high prevalence of positive screening for mental disorders in nurses, physicians, and nursing technicians, which were influenced by work-related factors and individual susceptibility factors.
Article
Oncology
Cintia Regina Niederauer Ramos, Renato Jose Silva Oliveira, Marcela Nunes Rosa, Ariane Stefani Pereira, Renata Barbosa Vahia de Abreu, Andre van Helvoort Lengert, Rui Manuel Reis, Viviane Aline Oliveira Silva, Edenir Inez Palmero, Matias Eliseo Melendez
Summary: RAD50 protein deficiency plays an important role in the response of breast cancer cell lines to PARP inhibitors, and may serve as a good biomarker for predicting PARPi response.
CURRENT CANCER DRUG TARGETS
(2023)
Review
Biotechnology & Applied Microbiology
Edina Poletto, Andrew Oliveira Silva, Ricardo Weinlich, Priscila Keiko Matsumoto Martin, Davi Coe Torres, Roberto Giugliani, Guilherme Baldo
Summary: Lysosomal storage disorders (LSD) are rare genetic diseases caused by mutations in lysosomal function-related genes. Gene therapy is a promising approach for LSD due to their monogenic nature and the ability of lysosomal proteins to cross-correct neighboring cells. Ex vivo gene therapy using modified cells from various sources, such as stem cells and hematopoietic precursors, is underway.
EXPERT OPINION ON BIOLOGICAL THERAPY
(2023)
Article
Pharmacology & Pharmacy
Anna-Maria Wiesinger, Brian Bigger, Roberto Giugliani, Christina Lampe, Maurizio Scarpa, Tobias Moser, Christoph Kampmann, Georg Zimmermann, Florian B. Lagler
Summary: Mucopolysaccharidosis (MPS) is a rare group of metabolic diseases with limited treatment options. This study proposes the use of immunomodulatory drugs in innovative individual treatment trials (ITTs) for MPS patients and develops a risk-benefit model for drug evaluation. The decision analysis framework (DAF) includes literature analysis, quantitative risk-benefit assessment, and phenotypic profiling. Four immunomodulatory drugs, adalimumab, abatacept, anakinra, and cladribine, show promise for MPS treatment. This evidence-based model provides a step towards precision medicine in MPS using immunomodulators.
Article
Biochemistry & Molecular Biology
Nuno Lopes, Maria L. Maia, Catia S. Pereira, Ines Mondragao-Rodrigues, Esmeralda Martins, Rosa Ribeiro, Ana Gaspar, Patricio Aguiar, Paula Garcia, Maria Teresa Cardoso, Esmeralda Rodrigues, Elisa Leao-Teles, Roberto Giugliani, Maria F. F. Coutinho, Sandra Alves, M. Fatima Macedo
Summary: In MPS VI disease patients, there is a decrease in the percentage of natural killer cells and monocytes compared to controls. However, there are no alterations in the percentage of T cells, invariant NKT cells, and B cells in both MPS II and VI disease patients. Interestingly, MPS VI disease patients have a higher frequency of naive T cells and lower memory T cell frequency compared to control subjects.
Article
Biology
Pierre Faux, Li Ding, Luis Miguel Ramirez-Aristeguieta, J. Camilo Chacon-Duque, Maddalena Comini, Javier Mendoza-Revilla, Macarena Fuentes-Guajardo, Claudia Jaramillo, William Arias, Malena Hurtado, Valeria Villegas, Vanessa Granja, Rodrigo Barquera, Paola Everardo-Martinez, Mirsha Quinto-Sanchez, Jorge Gomez-Valdes, Hugo Villamil-Ramirez, Caio C. Silva de Cerqueira, Tabita Hunemeier, Virginia Ramallo, Rolando Gonzalez-Jose, Lavinia Schuler-Faccini, Maria-Catira Bortolini, Victor Acuna-Alonzo, Samuel Canizales-Quinteros, Giovanni Poletti, Carla Gallo, Francisco Rothhammer, Winston Rojas, Annina B. Schmid, Kaustubh Adhikari, David L. Bennett, Andres Ruiz-Linares
Summary: The Nav1.7 voltage-gated sodium channel plays a key role in nociception. Variants in the SCN9A gene associated with Neanderthal introgression are found to be common in Latin Americans and are associated with lower mechanical pain thresholds.
COMMUNICATIONS BIOLOGY
(2023)
Review
Oncology
Maira Caleffi, Erica Ana Hobold, Gabriel Johnson
Summary: This review article analyzes the structural problems in Brazil's public health system that hinder navigation for breast cancer patients, highlighting the advocacy work of patient associations in increasing cancer prevention awareness, reducing cancer-related stigma, and ensuring access to quality care and treatment.
CURRENT BREAST CANCER REPORTS
(2023)
Article
Otorhinolaryngology
Lidia Maria Rebolho Batista Arantes, Renato Jose Silva-Oliveira, Ana Carolina de Carvalho, Matias Eliseo Melendez, Bruna Pereira Sorroche, Renan de Jesus Teixeira, Katiane Tostes, Edenir Inez Palmero, Rui Manuel Reis, Andre Lopes Carvalho
Summary: This study found that the methylation status of MGMT and DAPK has high accuracy in predicting the response of HNSCC cell lines to Afatinib and Allitinib, making them potential predictive biomarkers. These findings hold promise for the development of more personalized and effective treatment approaches for HNSCC patients.
HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK
(2023)
Retraction
Pharmacology & Pharmacy
Anna-Maria Wiesinger, Brian Bigger, Roberto Giugliani, Christina Lampe, Maurizio Scarpa, Tobias Moser, Christoph Kampmann, Georg Zimmermann, Florian B. Lagler
Correction
Genetics & Heredity
Hongyan Li, Christoph Engel, Miguel De la Hoya, Paolo Peterlongo, Drakoulis Yannoukakos, Luca Livraghi, Paolo Radice, Mads Thomassen, Thomas V. O. Hansen, Anne-Marie Gerdes, Henriette R. Nielsen, Sandrine M. Caputo, Alberto Zambelli, Ake Borg, Angela Solano, Abigail Thomas, Michael T. Parsons, Antonis C. Antoniou, Goska Leslie, Xin Yang, Georgia Chenevix-Trench, Trinidad Caldes, Ava Kwong, Inge Sokilde Pedersen, Charlotte K. Lautrup, Esther M. John, Mary Beth Terry, John L. Hopper, Melissa C. Southey, Irene L. Andrulis, Marc Tischkowitz, Ramunas Janavicius, Susanne E. Boonen, Lone Kroeldrup, Liliana Varesco, Ute Hamann, Ana Vega, Edenir I. Palmero, Judy Garber, Marco Montagna, Christi J. Van Asperen, Lenka Foretova, Mark H. Greene, Tina Selkirk, Pal Moller, Amanda E. Toland, Susan M. Domchek, Paul A. James, Heather Thorne, Diana M. Eccles, Sarah M. Nielsen, Siranoush Manoukian, Barbara Pasini, Maria A. Caligo, Conxi Lazaro, Judy Kirk, Barbara Wappenschmidt, Amanda B. Spurdle, Fergus J. Couch, Rita Schmutzler, David E. Goldgar
GENETICS IN MEDICINE
(2022)
Article
Oncology
Pal Moller, Toni Seppala, James G. Dowty, Saskia Haupt, Mev Dominguez-Valentin, Lone Sunde, Inge Bernstein, Christoph Engel, Stefan Aretz, Maartje Nielsen, Gabriel Capella, Dafydd Gareth Evans, John Burn, Elke Holinski-Feder, Lucio Bertario, Bernardo Bonanni, Annika Lindblom, Zohar Levi, Finlay Macrae, Ingrid Winship, John-Paul Plazzer, Rolf Sijmons, Luigi Laghi, Adriana Della Valle, Karl Heinimann, Elizabeth Half, Francisco Lopez-Koestner, Karin Alvarez-Valenzuela, Rodney J. Scott, Lior Katz, Ido Laish, Elez Vainer, Carlos Alberto Vaccaro, Dirce Maria Carraro, Nathan Gluck, Naim Abu-Freha, Aine Stakelum, Rory Kennelly, Des Winter, Benedito Mauro Rossi, Marc Greenblatt, Mabel Bohorquez, Harsh Sheth, Maria Grazia Tibiletti, Leonardo S. Lino-Silva, Karoline Horisberger, Carmen Portenkirchner, Ivana Nascimento, Norma Teresa Rossi, Leandro Apolinario da Silva, Huw Thomas, Attila Zarand, Jukka-Pekka Mecklin, Kirsi Pylvanainen, Laura Renkonen-Sinisalo, Anna Lepisto, Paivi Peltomaki, Christina Therkildsen, Lars Joachim Lindberg, Ole Thorlacius-Ussing, Magnus von Knebel Doeberitz, Markus Loeffler, Nils Rahner, Verena Steinke-Lange, Wolff Schmiegel, Deepak Vangala, Claudia Perne, Robert Hueneburg, Aida Falcon de Vargas, Andrew Latchford, Anne-Marie Gerdes, Ann-Sofie Backman, Carmen Guillen-Ponce, Carrie Snyder, Charlotte K. Lautrup, David Amor, Edenir Palmero, Elena Stoffel, Floor Duijkers, Michael J. Hall, Heather Hampel, Heinric Williams, Henrik Okkels, Jan Lubinski, Jeanette Reece, Joanne Ngeow, Jose G. Guillem, Julie Arnold, Karin Wadt, Kevin Monahan, Leigha Senter, Lene J. Rasmussen, Liselotte P. van Hest, Luigi Ricciardiello, Maija R. J. Kohonen-Corish, Marjolijn J. L. Ligtenberg, Melissa Southey, Melyssa Aronson, Mohd N. Zahary, N. Jewel Samadder, Nicola Poplawski, Nicoline Hoogerbrugge, Patrick J. Morrison, Paul James, Grant Lee, Rakefet Chen-Shtoyerman, Ravindran Ankathil, Rish Pai, Robyn Ward, Susan Parry, Tadeusz Debniak, Thomas John, Thomas van Overeem Hansen, Trinidad Caldes, Tatsuro Yamaguchi, Veronica Barca-Tierno, Pilar Garre, Giulia Martina Cavestro, Juergen Weitz, Silke Redler, Reinhard Buettner, VincentZ Heuveline, John L. Hopper, Aung Ko Win, Noralane Lindor, Steven Gallinger, Loic Le Marchand, Polly A. Newcomb, Jane Figueiredo, Daniel D. Buchanan, Stephen N. Thibodeau, Sanne W. ten Broeke, Eivind Hovig, Sigve Nakken, Marta Pineda, Nuria Duenas, Joan Brunet, Kate Green, Fiona Lalloo, Katie Newton, Emma J. Crosbie, Miriam Mints, Douglas Tjandra, Florencia Neffa, Patricia Esperon, Revital Kariv, Guy Rosner, Walter Hernan Pavicic, Pablo Kalfayan, Giovana Tardin Torrezan, Thiago Bassaneze, Claudia Martin, Gabriela Moslein, Aysel Ahadova, Matthias Kloor, Julian R. Sampson, Mark A. Jenkins
Summary: This study compared the colorectal cancer incidence in carriers of pathogenic variants of the MMR genes in two cohorts. The PLSD cohort, with mandatory colonoscopy surveillance, had higher CRC incidences compared to the retrospective IMRC cohort. Surprisingly, the incidence was not reduced in path_MSH6 carriers. However, the incidence in path_PMS2 carriers was reduced, though not significantly.
HEREDITARY CANCER IN CLINICAL PRACTICE
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
Felipe A. O. Garcia, Edilene S. de Andrade, Henrique C. R. Galvao, Cristina S. Sabato, Natalia Campacci, Matias E. Melendez, Rui M. Reis, Edenir I. Palmero
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)