Article
Genetics & Heredity
C. Bethan Powell, Cecile Laurent, Christine Garcia, Elizabeth Hoodfar, Audrey Karlea, Christine Kobelka, Jaimie Lee, Janise Roh, Lawrence H. Kushi
Summary: This study investigated the impact of disparities and other factors on referral to genetic counseling and testing for hereditary breast and ovarian cancer syndrome (HBOC) within a large healthcare system. Factors such as younger age, family history, and chemotherapy were found to be associated with referral, while higher comorbidity score and prior cancer were associated with non-referral. Race was only a significant factor for breast cancer, with fewer Asians referred compared to Whites. Despite differences in specific cancers, health disparities in genetic referral for HBOC cancers were mitigated within a comprehensive integrated healthcare system.
Article
Biochemistry & Molecular Biology
Mar Infante, Monica Arranz-Ledo, Enrique Lastra, Luis Enrique Abella, Raquel Ferreira, Marta Orozco, Lara Hernandez, Noemi Martinez, Mercedes Duran
Summary: The probability of carrying two pathogenic variants in dominant cancer-predisposing genes for hereditary breast and ovarian cancer and lynch syndromes in the same patient is uncommon. However, four cases of patients carrying different pathogenic variants in breast, ovarian, or colorectal cancer have been identified. The ages at diagnosis and severity of disease were similar to those in single gene carriers.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Oncology
Anna Ofverholm, Therese Toerngren, Anna Rosen, Brita Arver, Zakaria Einbeigi, Karin Haraldsson, Anne Kinhult Stahlbom, Ekaterina Kuchinskaya, Annika Lindblom, Beatrice Melin, Ylva Paulsson-Karlsson, Marie Stenmark-Askmalm, Emma Tham, Anna von Wachenfeldt, Anders Kvist, Ake Borg, Hans Ehrencrona
Summary: This study assessed the genetic variation in a large cohort of women with suspected HBOC and found that extending clinical genetic screening from BRCA1 and BRCA2 to 13 established cancer predisposition genes almost doubles the diagnostic yield. This has implications for genetic counseling and clinical guidelines.
Review
Oncology
Jenny Lin, Ravi N. Sharaf, Rachel Saganty, Danyal Ahsan, Julia Feit, Andrea Khoury, Hannah Bergeron, Eloise Chapman-Davis, Evelyn Cantillo, Kevin Holcomb, Stephanie V. Blank, Ying Liu, Charlene Thomas, Paul J. Christos, Drew N. Wright, Steven Lipkin, Kenneth Offit, Melissa K. Frey
Summary: This study evaluates the literature on genetic assessment for women with ovarian cancer and finds that rates of genetic testing remain below the goal of universal testing. Interventions such as mainstreaming can improve testing uptake, and strategies to improve utilization of genetic services should consider existing disparities in race and insurance status.
GYNECOLOGIC ONCOLOGY
(2021)
Article
Obstetrics & Gynecology
Benedikt Zang, Malina Helms, Laura Besch, Nanette Kalmbach, Stephanie Stegen, Jens-Uwe Blohmer, Dorothee Speiser
Summary: Genetic counseling and analysis play a crucial role in the prevention and treatment of hereditary breast and ovarian cancer. The rate of pathogenic variants detected is associated with family history, breast cancer subtype, and age at diagnosis, and can have a significant impact. Therefore, a standardized process of identification, genetic counseling, and genetic analysis is necessary.
ARCHIVES OF GYNECOLOGY AND OBSTETRICS
(2023)
Article
Oncology
Anita Caruso, Gabriella Maggi, Cristina Vigna, Antonella Savarese, Laura Gallo, Lara Guariglia, Giulia Casu, Paola Gremigni
Summary: This study explored the impact of family and personal cancer history and emotional factors, such as depression and anxiety, on cancer-related worry and risk perception within the context of genetic counseling. The results showed that increasing levels of depression and anxiety were associated with higher levels of cancer-related worry and risk perception, with health care-related fears acting as a mediator in this relationship. These findings have important implications for the clinical practice of genetic counseling.
Article
Health Care Sciences & Services
Ute Felbor, Robin Buelow, Rita K. Schmutzler, Matthias Rath
Summary: The German Consortium Hereditary Breast and Ovarian Cancer (GC-HBOC) consists of 23 academic centers that aim to provide high-quality regional care for affected individuals and at-risk family members. Our experience in the North Eastern part of Germany demonstrates the feasibility of establishing a high-risk breast and ovarian cancer service even in a sparsely populated region.
Article
Public, Environmental & Occupational Health
Friedrich Kuehn, Maria Margarete Karsten, Friederike Kendel, Markus A. Feufel, Dorothee Speiser
Summary: The training course aimed to strengthen cross-sectoral care by disseminating specialized knowledge about hereditary breast and ovarian cancer in underserved areas. Results showed an increase in certainty regarding inclusion criteria for genetic counseling, but participants still faced difficulties in interpreting and differentiating risks.
PATIENT EDUCATION AND COUNSELING
(2021)
Article
Public, Environmental & Occupational Health
Elen Siglen, Hildegunn Hoberg Vetti, Aslaug Beathe Forberg Lunde, Thomas Akselberg Hatlebrekke, Nina Stromsvik, Anniken Hamang, Sigrid Tronsli Hovland, Jill Walker Rettberg, Vidar M. Steen, Cathrine Bjorvatn
Summary: This study aimed to develop a pilot version of an app called Rosa that utilizes chatbot technology to engage in digital conversations with breast or ovarian cancer patients about genetic BRCA testing. The research employed a commercial chatbot platform and participatory methodology, collaborating with a team of patient representatives, IT engineers, genetic counselors, and clinical geneticists nationwide. An iterative approach was taken, allowing for extensive user testing and formal usability testing during the development process.
PATIENT EDUCATION AND COUNSELING
(2022)
Article
Oncology
Alexandra Wehbe, Mark Manning, Hadeel Assad, Kristen S. Purrington, Michael S. Simon
Summary: This study examined racial differences in referral and uptake of genetic counseling among women with breast cancer. The findings showed no racial differences in referral or appointment completion in a clinic-based population of women with breast cancer. The study suggests the need for further interventions to increase referral and appointment completion for eligible women.
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
Public, Environmental & Occupational Health
Sara Gomez-Trillos, Kristi D. Graves, Katie Fiallos, Marc D. Schwartz, Beth N. Peshkin, Heidi Hamilton, Vanessa B. Sheppard, Susan T. Vadaparampil, Claudia Campos, Ana Paula Cupertino, Maria C. Alzamora, Filipa Lynce, Alejandra Hurtado-de-Mendoza
Summary: This article describes the process of adapting a telephone genetic counseling protocol and visual aid booklet for Spanish-preferring Latina breast cancer survivors at increased risk for hereditary breast and ovarian cancer (HBOC). Culturally adapting interventions can improve health outcomes in historically marginalized populations and promote equity.
TRANSLATIONAL BEHAVIORAL MEDICINE
(2023)
Article
Health Care Sciences & Services
Arian Mansur, Fang Zhang, Christine Y. Lu
Summary: Genetic testing and counseling play important roles in patient care, but access to these services is influenced by health insurance coverage. Limited research has been conducted on the association between health insurance and the uptake of genetic testing and counseling. This study found that women with health insurance, particularly military and private insurance, were more likely to undergo genetic testing and counseling for breast/ovarian cancer risk.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Health Care Sciences & Services
Celia Villafane-Bernier, Julie Lapointe, Camille Raiche, Sophie Lauzier, Jocelyne Chiquette, Karine Bouchard, Sylvie Pelletier, Arian Omeranovic, Josee Rheaume, Claire Brousseau, Johanne Hebert, Michel Dorval, Hermann Nabi
Summary: Through cultural adaptation and validation, a French version of the GCSS has been developed, which is clearly understood by patients and has psychometric properties in line with the original English version.
Review
Oncology
Fernando Augusto Batista Campos, Etienne Rouleau, Giovana Tardin Torrezan, Dirce Maria Carraro, Jose Claudio Casali da Rocha, Higor Kassouf Mantovani, Leonardo Roberto da Silva, Cynthia Aparecida Bueno de Toledo Osorio, Solange Moraes Sanches, Sandrine M. Caputo, Elizabeth Santana dos Santos
Summary: Male breast cancer is a rare disease, with distinct genetic background compared to female breast cancer. Common genetic and epigenetic features of female breast cancer are not shared with male breast cancer. Inherited germline variants likely play a significant role in the tumorigenesis of male breast cancer.
Article
Cell Biology
Kunie Yoshinaga-Sakurai, Toby G. Rossman, Barry P. Rosen
Summary: AS3MT is a human enzyme that catalyzes arsenic biotransformations and is considered to contribute to arsenic-related diseases. The expression of AS3MT is tissue/cell type-specific, and the transcriptional regulation mechanism of the gene is still unknown. In this study, the core promoter region of the human AS3MT gene is defined, and a GC box in the promoter is identified as a site where the transcription factor Sp1 binds, indicating the involvement of regulatory elements in AS3MT gene expression.
CELL BIOLOGY AND TOXICOLOGY
(2022)
Article
Microbiology
Jun Zhang, Jian Chen, Yi-Fei Wu, Zi-Ping Wang, Ji-Guo Qiu, Xiao-Long Li, Feng Cai, Ke-Qing Xiao, Xiao-Xu Sun, Barry P. Rosen, Fang-Jie Zhao
Summary: Arsenic can be biomethylated to form various organic arsenicals with different toxicities and environmental mobilities. The trivalent methylarsenite (MAs(III)) produced in this process is more toxic than inorganic arsenite (As(III) and can also act as a primitive antibiotic. A new enzyme, ArsV, has been identified in Ensifer adhaerens ST2, which plays a role in detoxifying MAs(III) and Sb(III) by oxidizing them to MAs(V) and Sb(V). Genes encoding ArsV are widely present in soil bacteria according to metagenomic analysis.
ENVIRONMENTAL MICROBIOLOGY
(2022)
Article
Microbiology
Jian Chen, Jun Zhang, Barry P. Rosen
Summary: Organoarsenicals enter the environment from biogenic and anthropogenic sources. Microorganisms can methylate trivalent inorganic arsenite to more toxic methylarsenite and oxidize them. Sources include herbicides and antimicrobial growth promoters, with microorganisms such as Sphingobacterium wenxiniae showing resistance and detoxification abilities.
ENVIRONMENTAL MICROBIOLOGY
(2022)
Review
Environmental Sciences
Xi-Mei Xue, Chan Xiong, Masafumi Yoshinaga, Barry Rosen, Yong-Guan Zhu
Summary: This review summarizes the classification, identification, and toxicological properties of organoarsenicals in the environment. The toxicological properties and biological functions of most organoarsenicals are still largely unknown.
CRITICAL REVIEWS IN ENVIRONMENTAL SCIENCE AND TECHNOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Ngozi P. Paul, Adriana E. Galvan, Kunie Yoshinaga-Sakurai, Barry P. Rosen, Masafumi Yoshinaga
Summary: Arsenicals, one of the oldest treatments for various human disorders, have been paradoxically used as therapeutic agents since ancient times despite their toxicity. After the discovery of antibiotics, most arsenic-based drugs were abandoned, but recent years have seen a renewed interest in their clinical use. The current applications of arsenicals include antimicrobial, antiviral, antiparasitic, and anticancer uses. With the rise of antibiotic resistance and emerging pathogens, revisiting arsenicals as an effective treatment option is suggested.
Article
Genetics & Heredity
Amy Finch, Kelly Metcalfe, Mohammad Akbari, Eitan Friedman, Nadine Tung, Barry Rosen, Andrea Eisen, Beth Karlan, William Foulkes, Susan L. Neuhausen, Leigha Senter, Wendy McKinnon, Christine Elser, Ping Sun, Steven A. Narod
Summary: Approximately 1% of the Ashkenazi Jewish population carries the BRCA2 6174delT pathogenic variant, which is associated with the risks of breast and ovarian cancer. Women carrying the 6174delT variant have a significantly lower annual risk for developing breast cancer compared to those carrying other variants in the BRCA2 gene, but the difference in ovarian or fallopian tube cancer risk is not significant.
Article
Microbiology
Jun Zhang, Jian Chen, Yi-Fei Wu, Xia Liu, Charles Packianathan, Venkadesh S. Nadar, Barry P. Rosen, Fang-Jie Zhao
Summary: This study identified an arsRM operon in Noviherbaspirillum denitrificans HC18, which can detoxify MAs(III) via further methylation.
ENVIRONMENTAL MICROBIOLOGY
(2022)
Review
Medicine, General & Internal
Y. Tong, E. Orang'o, M. Nakalembe, P. Tonui, P. Itsura, K. Muthoka, M. Titus, S. Kiptoo, A. Mwangi, J. Ong'echa, R. Tonui, B. Odongo, C. Mpamani, B. Rosen, A. Moormann, S. Cu-Uvin, J. A. Bailey, C. Oduor, A. Ermel, C. Yiannoutsos, B. Musick, E. Sang, A. Ngeresa, G. Banturaki, A. Kiragga, J. Zhang, Y. Song, S. Chintala, R. Katzenellenbogen, P. Loehrer, D. R. Brown
Summary: The East Africa Consortium was established to study the epidemiology of HPV infections and cervical cancer, as well as the influence of HIV infection on HPV and cervical cancer. Collaborations between researchers in North America and East African countries have led to a better understanding of the impact of HIV infection on the detection and persistence of oncogenic HPV, the effects of dietary aflatoxin on HPV detection, the benefits of antiretroviral therapy on HPV persistence, and the differences in HPV detections among HIV-infected and HIV-uninfected women undergoing treatment for cervical dysplasia. Future research will focus on how HPV testing can be integrated into cervical cancer screening programs, the influence of aflatoxin on the immunological control of HIV, and how HPV alters certain genes involved in tumor growth in HIV-infected women.
ANNALS OF MEDICINE
(2022)
Article
Oncology
Joanne Kotsopoulos, Jan Lubinski, Jacek Gronwald, Janusz Menkiszak, Jeanna McCuaig, Kelly Metcalfe, William D. Foulkes, Susan L. Neuhausen, Sophie Sun, Beth Y. Karlan, Andrea Eisen, Nadine Tung, Olufunmilayo Olopade, Fergus J. Couch, Tomasz Huzarski, Leigha Senter, Louise Bordeleau, Christian F. Singer, Charis Eng, Robert Fruscio, Tuya Pal, Ping Sun, Steven A. Narod
Summary: The study suggests that bilateral oophorectomy is unlikely to determine the risk of breast cancer in BRCA1 mutation carriers, but it should be offered at age 35 to reduce the risk of ovarian and fallopian tube cancer.
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
(2022)
Article
Microbiology
Jun Zhang, Yan-Ning Li, Jian Chen, Yu Yan, Barry P. Rosen, Fang-Jie Zhao
Summary: This study investigates the molecular mechanisms behind the MAs(III) resistance of Ensifer adhaerens ST2. The results show that the gene arsZ encodes a novel MAs(III) oxidase, which oxidizes highly toxic MAs(III) to relatively nontoxic MAs(V) and confers resistance.
ENVIRONMENTAL MICROBIOLOGY
(2022)
Article
Microbiology
Yi-Fei Wu, Jian Chen, Wan-Ying Xie, Chao Peng, Shi-Tong Tang, Barry P. P. Rosen, Andreas Kappler, Jun Zhang, Fang-Jie Zhao
Summary: We isolated a photosynthetic purple bacteria, Rhodobacter strain CZR27, from an arsenic-contaminated paddy soil and demonstrated its capacity to oxidize As(III) to As(V) using malate as a carbon source photosynthetically. Our study revealed the presence of anaerobic photosynthesis-coupled As(III) oxidation in paddy soils, highlighting the importance of light-dependent, microbe-mediated arsenic redox changes in paddy arsenic biogeochemistry.
ENVIRONMENTAL MICROBIOLOGY
(2023)
Article
Engineering, Environmental
Jian Chen, Barry P. Rosen
Summary: In this study, the broad diversity of structural domains in ArsMs was revealed through comparative analysis. The differences in the ArsM structure lead to variations in methylation efficiency and substrate selectivity. The C-terminal domain was found to play a role in modulating the rate of catalysis. Additionally, the relationship between arsenite efflux systems and methylation was examined.
ENVIRONMENTAL SCIENCE & TECHNOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Ngozi P. P. Paul, Thiruselvam Viswanathan, Jian Chen, Masafumi Yoshinaga, Barry P. P. Rosen
Summary: AST is a pentavalent organoarsenical synthesized by Burkholderia gladioli GSRB05, which is effective against carbapenem-resistant Enterobacter cloacae. It inhibits bacterial glutamine synthetase and is a non-proteogenic amino acid and glutamate mimetic. ArsQ is an efflux permease that is proposed to transport AST or related species out of the cells, but the chemical nature of the actual transport substrate is unclear.
MOLECULAR MICROBIOLOGY
(2023)
Article
Microbiology
Masafumi Yoshinaga, Guodong Niu, Kunie Yoshinaga-Sakurai, Venkadesh S. S. Nadar, Xiaohong Wang, Barry P. P. Rosen, Jun Li
Summary: Malaria caused by Plasmodium parasites is a major disease with high morbidity and mortality rates. The Plasmodium parasite has a complex life cycle involving both human and mosquito hosts. Most current antimalarials only target the blood stage of the parasite, requiring the development of new drugs that can target multiple stages of the life cycle.
Article
Engineering, Environmental
Shi-Tong Tang, Xin-Wei Song, Jian Chen, Jie Shen, Bin Ma, Barry P. Rosen, Jun Zhang, Fang-Jie Zhao
Summary: This study identified a previously unknown gene, arsO, which encodes an enzyme called ArsO that oxidizes Sb(III) to Sb(V) under aerobic conditions. The enzyme plays a significant role in the detoxification of Sb(III) in the environment. The arsO gene is widely distributed and abundant in various environments affected by human activities.
ENVIRONMENTAL SCIENCE & TECHNOLOGY
(2023)