Article
Oncology
Julie O. Culver, Yael Freiberg, Charite Ricker, Jacob G. Comeaux, Emmeline Y. Chang, Victoria Banerjee, Duveen Sturgeon, Ilana Solomon, Josie Kagey, Mariana G. Dobre, Joseph Carey, Azadeh Carr, Stephanie Cho, Janice Lu, Irene M. Kang, Ketan Patel, Alicia Terando, Jason C. Ye, Ming Li, Caryn Lerman, Darcy Spicer, Maria Nelson
Summary: Newly diagnosed breast cancer patients attending a multidisciplinary clinic showed high acceptance rates of genetic counseling and genetic testing, which can provide timely information critical for patient risk assessment and treatment planning.
ANNALS OF SURGICAL ONCOLOGY
(2023)
Article
Oncology
Memnun Seven, Lisa L. Shah, Hulya Yazici, Sandra Daack-Hirsch
Summary: This study aimed to explore the communication of BRCA1/2 genetic risk from the proband to first-degree relatives and found a low rate of genetic testing. Counseling should consider the educational level of the proband and the age of relatives.
Review
Oncology
Victoria G. Woof, Anthony Howell, Lorna McWilliams, D. Gareth Evans, David P. French
Summary: This review synthesised qualitative research on how women perceive their increased risk of breast cancer. Women tend to appraise their risk by comparing it with other familial diseases. They heavily rely on family history and assess their likelihood of diagnosis based on similarities and differences with affected relatives. Women at increased risk often feel uncertainty and inevitability regarding diagnosis, leading to concerns about risk management. Personal appraisals of breast cancer risk are mainly formed through personal experiences with breast cancer in the family. Healthcare professionals should explore women's personal risk appraisals before providing clinically derived risk estimates to address misconceptions, reduce concerns about inevitability, and increase perceived control over risk reduction.
BRITISH JOURNAL OF CANCER
(2022)
Article
Medicine, Research & Experimental
Megan L. Kruse, Mona Patel, Jeffrey McManus, Yoon-Mi Chung, Xiuxiu Li, Wei Wei, Peter S. Bazeley, Fumihiko Nakamura, Aimalie Hardaway, Erinn Downs, Sarat Chandarlapaty, Mathew Thomas, Halle C. F. Moore, George T. Budd, W. H. Wilson Tang, Stanley L. Hazen, Aaron Bernstein, Serena Nik-Zainal, Jame Abraham, Nima Sharifi
Summary: The study found that homozygous inheritance of the adrenal-permissive HSD3B1(1245C) is associated with postmenopausal estrogen receptor-positive (ER-positive) breast cancer. The genotype frequency is higher in postmenopausal White women with estrogen-driven breast cancer compared to ER-negative breast cancer and the general population. Circulating androstenedione concentration is also elevated with the adrenal-permissive genotype.
Article
Communication
Kelsey Stuttgen Finn, Joel E. Pacyna, Cindy Tsou, Niloy J. Samadder, Richard R. Sharp
Summary: The study focuses on factors influencing patient decisions to share positive cancer genetic test results with family members, highlighting the predictive role of familial support and communication scores. The data point to potential interventional strategies to increase the likelihood of sharing cancer-related genetic test results with at-risk family members.
JOURNAL OF HEALTH COMMUNICATION
(2021)
Article
Oncology
Sarah Knerr, Boya Guo, Kathleen F. Mittendorf, Heather Spencer Feigelson, Marian J. Gilmore, Gail P. Jarvik, Tia L. Kauffman, Erin Keast, Frances L. Lynch, Kristin R. Muessig, Sonia Okuyama, David L. Veenstra, Jamilyn M. Zepp, Katrina A. B. Goddard, Beth Devine
Summary: This study examined risk-reducing surgeries in unaffected individuals who underwent germline genetic testing for hereditary cancer susceptibility. The results showed a lower uptake of risk-reducing surgery, influenced by NCCN guidelines. Other factors also played a role in prophylactic surgery use.
Article
Obstetrics & Gynecology
Leah Marsh, Marlene Mendoza, Zina Tatsugawa, Elizabeth Pineda, Daniela Markovic, Christine H. H. Holschneider, Mae Zakhour
Summary: This study evaluated the impact of a community health worker-supported hereditary cancer risk-assessment and genetic testing program in a safety-net hospital with a large number of medically underserved patients. The pilot program showed that the use of self-administered questionnaires and telehealth-based genetic services led to an increased rate of genetic testing for high-risk patients based on family history. This type of program has the potential to improve hereditary cancer testing for medically underserved patients and enhance cancer-prevention strategies.
OBSTETRICS AND GYNECOLOGY
(2023)
Article
Oncology
Samantha H. Jakuboski, Jasmine A. McDonald, Mary Beth Terry
Summary: Before the recommended age for mammography-based breast cancer screening, identifying high-risk women for early screening and targeted chemoprevention mainly relies on clinical guidelines based on family history and known mutations. However, relying solely on guidelines could exacerbate breast cancer health disparities. Non-Hispanic black women continue to experience higher rates of early-onset breast cancer and mortality, while reporting lower rates of family history compared to non-Hispanic white women. This highlights the importance of genetic testing to identify high-risk non-Hispanic black women early on for tailored risk reduction and screening programs.
Article
Oncology
Sukh Makhnoon, Grace Tran, Brooke Levin, Kristin D. Mattie, Brian Dreyer, Robert J. Volk, Generosa Grana, Banu K. Arun, Susan K. Peterson
Summary: The study found that the management uptake among cascade testers of hereditary breast and ovarian cancer is high, comparable to unaffected BRCA-positive women, with differences in surgical and screening uptake rates among different age groups.
Article
Computer Science, Interdisciplinary Applications
Gaetano Manzo, Yvan Pannatier, Patrick Duflot, Philippe Kolh, Marcela Chavez, Valerie Bleret, Davide Calvaresi, Oscar Jimenez-del-Toro, Michael Schumacher, Jean -Paul Calbimonte
Summary: Personalized support and assistance are crucial for cancer survivors due to the physical and psychological challenges they face. Digital assistive technologies, such as exercise monitoring and emotional support, have demonstrated their effectiveness in improving the quality of life for cancer survivors. This paper presents a Machine Learning-based survival model integrated into a clinical decision system architecture to predict cancer survivors' trajectories. The proposed system, named PERSIST, incorporates the enrichment and pre-processing of clinical datasets and the development of clinical decision support modules, including the detection of high-risk markers.
COMPUTER METHODS AND PROGRAMS IN BIOMEDICINE
(2023)
Article
Oncology
Fabian Silva-Aravena, Hugo Nunez Delafuente, Jimmy H. Gutierrez-Bahamondes, Jenny Morales
Summary: Worldwide, the coronavirus has had a severe impact on health services, especially in the management of cancer patients. Breast cancer is the most affected, with an estimated 20 million cases and 10 million deaths by 2020. This paper presents a decision support strategy based on machine learning and explainability algorithms to classify patients and predict the disease, providing valuable insights for health teams and personalized alerts.
Article
Oncology
Chi Gao, Eric C. Polley, Steven N. Hart, Hongyan Huang, Chunling Hu, Rohan Gnanaolivu, Jenna Lilyquist, Nicholas J. Boddicker, Jie Na, Christine B. Ambrosone, Paul L. Auer, Leslie Bernstein, Elizabeth S. Burnside, A. Heather Eliassen, Mia M. Gaudet, Christopher Haiman, David J. Hunter, Eric J. Jacobs, Esther M. John, Sara Lindstrom, Huiyan Ma, Susan L. Neuhausen, Polly A. Newcomb, Katie M. O'Brien, Janet E. Olson, Irene M. Ong, Alpa Patel, Julie R. Palmer, Dale P. Sandler, Rulla Tamimi, Jack A. Taylor, Lauren R. Teras, Amy Trentham-Dietz, Celine M. Vachon, Clarice R. Weinberg, Song Yao, Jeffrey N. Weitzel, David E. Goldgar, Susan M. Domchek, Katherine L. Nathanson, Fergus J. Couch, Peter Kraft
Summary: This study evaluated the joint association of pathogenic variants in breast cancer predisposition genes and polygenic risk scores with breast cancer in the general population. The findings suggest that polygenic risk scores facilitate personalized breast cancer risk assessment among carriers of pathogenic variants in predisposition genes.
JOURNAL OF CLINICAL ONCOLOGY
(2021)
Article
Public, Environmental & Occupational Health
Brian L. Mishara, David N. Weisstub
Summary: Genetic research suggests a heritable component to suicide risk, but predicting individual behavior remains challenging. The potential use of genetic information to predict suicide raises practical and ethical issues, such as the lack of effective preventive interventions and increased psychosocial risks associated with unreliable positive results.
PREVENTIVE MEDICINE
(2021)
Article
Nursing
Nichola McNamara, Meghan Feeney, Martina Giltenane, Maura Dowling
Summary: This study systematically identified and synthesized the experiences reported by women with a breast cancer mutation but without cancer from qualitative research published between 2013 and 2020. The findings highlight the emotional decision-making and risk management strategies that women carrying a breast cancer genetic mutation need to engage in. The study suggests the use of a decision coaching model during consultations to support women in making decisions regarding cancer risk-reducing strategies.
JOURNAL OF CLINICAL NURSING
(2023)
Article
Multidisciplinary Sciences
Celmira Laza-Vasquez, Nuria Codern-Bove, Angels Cardona-Cardona, Maria Jose Hernandez-Leal, Maria Jose Perez-Lacasta, Misericordia Carles-Lavila, Montserrat Rue
Summary: This study explores the barriers and facilitators to implementing a risk-based breast cancer screening program in the context of a National Health Service. Identified barriers include resistance to reducing the number of screening exams for low-risk women and resistance to change for health professionals. Facilitators include the benefits of risk-based strategies for high and low-risk women.
Article
Oncology
Julia E. McGuinness, William Ueng, Meghna S. Trivedi, Hae Seung Yi, Raven David, Alejandro Vanegas, Jennifer Vargas, Rossy Sandoval, Rita Kukafka, Katherine D. Crew
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
(2018)
Article
Oncology
Julia E. McGuinness, Meghna S. Trivedi, Thomas Silverman, Awilda Marte, Jennie Mata, Rita Kukafka, Katherine D. Crew
Article
Health Care Sciences & Services
Rita Kukafka
JOURNAL OF MEDICAL INTERNET RESEARCH
(2019)
Article
Oncology
T. Jones, M. S. Trivedi, X. Jiang, T. Silverman, M. Underhill, W. K. Chung, R. Kukafka, K. D. Crew
Summary: The study revealed racial/ethnic differences in genetic testing frequency and results among young breast cancer patients. The percentage of women undergoing genetic testing increased annually, with Blacks having the highest frequency of P/LP variants and Hispanics and Asians having high proportions of VUS variants.
JOURNAL OF CANCER EDUCATION
(2021)
Article
Oncology
Jessica D. Austin, Mariangela Agovino, Carmen B. Rodriguez, Mary Beth Terry, Rachel C. Shelton, Ying Wei, Elise Desperito, Karen M. Schmitt, Rita Kukafka, Parisa Tehranifar
Summary: The study found that dense breast notification significantly increases breast density awareness across different sociodemographic groups. Efforts to improve communication about dense breast notification should focus on addressing barriers in lower socioeconomic and racially diverse women, including educational and language barriers.
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
(2021)
Article
Oncology
Vicky Ro, Tarsha Jones, Thomas Silverman, Julia E. McGuinness, Ashlee Guzman, Jacquelyn Amenta, Rita Kukafka, Katherine D. Crew
Summary: There is uncertainty among stakeholders regarding the appropriate frequency of mammography screening. Radiologists recommend annual screening, while patients and primary care providers are divided between annual and biennial screening. Breast cancer risk assessment tools may facilitate decisions about screening intervals but face implementation barriers in primary care settings.
Review
Oncology
Shailender Bhatia, Paul Nghiem, S. Phani Veeranki, Alejandro Vanegas, Kristina Lachance, Lisa Tachiki, Kevin Chiu, Emily Boller, Murtuza Bharmal
Summary: This real-world study of advanced MCC patients treated with avelumab showed high response rates, durable responses, and prolonged survival. The findings validate the results demonstrated in prospective clinical trials and other observational studies.
JOURNAL FOR IMMUNOTHERAPY OF CANCER
(2022)
Article
Computer Science, Information Systems
Tianmai M. Zhang, Mari Millery, Alejandra N. Aguirre, Rita Kukafka
Summary: The study suggests that carefully selected digital health information materials delivered in the context of a community may result in improvements comparable to localized content in a hard-to-reach urban Hispanic population.
JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
(2023)
Article
Oncology
Erica Lee J. Argov, Carmen B. Rodriguez, Mariangela Agovino, Ying Wei, Rachel C. Shelton, Rita Kukafka, Karen M. Schmitt, Elise Desperito, Mary Beth Terry, Parisa Tehranifar
Summary: This study examines the psychological responses to dense breast notification (DBN) and awareness of breast density (BD) in a predominantly Hispanic population. The results suggest that DBN and BD awareness have short-term psychological effects, including increased perceived risk and uncertainty, particularly among Spanish-speaking women. However, there were no significant associations with long-term psychological outcomes such as breast cancer worry.
BREAST CANCER RESEARCH
(2022)
Article
Health Care Sciences & Services
Tarsha Jones, Ashlee Guzman, Thomas Silverman, Katherine Freeman, Rita Kukafka, Katherine Crew
Summary: The study found that high-risk women generally had a positive perception of the RealRisks web-based decision aid designed to promote breast cancer chemoprevention, and considered it helpful in improving their knowledge about breast cancer risk and treatment options. Most participants reported that RealRisks was easy to navigate, user-friendly, and accessible online. Some participants provided recommendations for improvements, such as more personalized features based on user characteristics and clearer language.
JOURNAL OF MEDICAL INTERNET RESEARCH
(2021)
Article
Oncology
Tarsha Jones, Katherine Freeman, Marra Ackerman, Meghna S. Trivedi, Thomas Silverman, Peter Shapiro, Rita Kukafka, Katherine D. Crew
ONCOLOGY NURSING FORUM
(2020)
Article
Medicine, Research & Experimental
Katherine D. Crew, Thomas B. Silverman, Alejandro Vanegas, Meghna S. Trivedi, Jill Dimond, Jennie Mata, Margaret Sin, Tarsha Jones, Mary Beth Terry, Wei-Yann Tsai, Rita Kukafka
CONTEMPORARY CLINICAL TRIALS COMMUNICATIONS
(2019)
Article
Oncology
Xinyi Jiang, Julia E. McGuinness, Margaret Sin, Thomas Silverman, Rita Kukafka, Katherine D. Crew
JCO CLINICAL CANCER INFORMATICS
(2019)