Article
Geriatrics & Gerontology
Giulia Lane, Kaitlin Hagan, Elisabeth Erekson, Vatche A. Minassian, Francine Grodstein, Julie Bynum
Summary: Despite the availability of various treatment options, few women, especially older women, discuss urinary incontinence with clinicians, with daily incontinence sufferers being more likely to seek help compared to monthly incontinence sufferers.
JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES
(2021)
Article
Oncology
Jie Sun, Futao Chu, Jiani Pan, Yaxin Zhang, Lu Yao, Jiuan Chen, Li Hu, Juan Zhang, Ye Xu, Xiaojia Wang, Wenming Cao, Yuntao Xie
Summary: The purpose of this study is to develop a risk prediction model for contralateral breast cancer(CBC) in patients with BRCA1/2 variants. The study found that age, family history, variant location, and endocrine therapy are associated with the risk of CBC. The model provides a useful tool for BRCA1/2 carriers to select risk-reducing strategies based on individual CBC risk.
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Article
Oncology
Helena Abreu do Valle, Paramdeep Kaur, Janice S. Kwon, Rona Cheifetz, Lesa Dawson, Gillian E. Hanley
Summary: The study showed that women with BRCA mutations who underwent prophylactic oophorectomy did not have an increased risk of cardiovascular disease, but they were less likely to be diagnosed with predisposing conditions compared to women without BRCA mutations.
GYNECOLOGIC ONCOLOGY
(2021)
Article
Oncology
Banu K. Arun, Susan K. Peterson, Lilian E. Sweeney, Rachel D. Bluebond, Rebecca S. S. Tidwell, Sukh Makhnoon, Anne C. Kushwaha
Summary: The study demonstrates that large-scale screening for HBOC syndromes at time of breast imaging is practical and highly feasible. The screening tool identified women with actionable BRCA1/2 mutations and mutation-negative but high-risk women, leading to significant changes in their risk management; these women would otherwise have been missed.
Article
Multidisciplinary Sciences
Hidetaka Nomura, Akiko Abe, Atsushi Fusegi, Teruyuki Yoshimitsu, Satoki Misaka, Atsushi Murakami, Tsuyoshi Matsumoto, Shiho Tsumura, Motoko Kanno, Yoichi Aoki, Sachiho Netsu, Makiko Omi, Terumi Tanigawa, Sanshiro Okamoto, Kohei Omatsu, Mayu Yunokawa, Hiroyuki Kanao, Eri Habano, Hiromi Arakawa, Keika Kaneko, Arisa Ueki, Yurie Haruyama, Hitoshi Inari, Takayuki Ueno
Summary: The impact of the coverage of risk-reducing salpingo-oophorectomy (RRSO) and mastectomy (RRM) as well as genetic testing for BRCA pathogenic variants by the national insurance system in Japan was investigated. It was found that the number of women undergoing RRSO increased after its coverage by the national insurance system, along with an increase in women undergoing surgery for breast cancer. Additionally, there was a significant increase in the diagnosis of BRCA pathogenic variants.
SCIENTIFIC REPORTS
(2023)
Article
Oncology
Naela Agha, Bader Alshamsan, Sharifa Al-Farsi, Heba Aly Ateya, Fahad A. Almugbel, Hazem Abdullah Alotaibi, Ayman Omar, Amgad Shahin Mohamed, Hanan Alharthy, Tusneem Elhassan, Hany Salem, Hamed Alhusaini
Summary: This study aims to determine the frequency, pattern, and impact of BRCA gene mutations on patient characteristics and outcomes in Saudi women with ovarian cancer (OC). The study found a higher prevalence of BRCA mutations in Saudi women with OC compared to regional and international figures and observed better clinical outcomes in women with BRCA mutations.
Review
Endocrinology & Metabolism
Xiaojing Liu, Jing Yue, Ruqiya Pervaiz, Hanwang Zhang, Lan Wang
Summary: This study aimed to assess the association between fertility treatments and breast cancer incidence in genetically susceptible women. The results showed that fertility treatments did not significantly increase the risk of breast cancer, but further large prospective studies are needed.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Review
Oncology
Ciara S. McNevin, Karen Cadoo, Anne-Marie Baird, Pierre Murchan, Orla Sheils, Ray McDermott, Stephen Finn
Summary: Studies have shown that prostate cancer patients with BRCA2/BRCA1 genetic aberrations are more likely to have worse disease and prognosis. BRCA2 mutation confers the highest risk for prostate cancer in men (8.6 fold in men & LE;65 years). While BRCA genes have garnered significant research attention, their role in the clinical assessment and treatment of prostate cancer remains complex.
Article
Medicine, General & Internal
Carla Landau, Anne Marie Novak, Ariel B. Ganz, Benjamin Rolnik, Eitan Friedman, Shahar Lev-Ari
Summary: The study demonstrates that IBSR can improve psychological well-being and lead to a more positive attitude towards risk-reducing surgical procedures in women carrying BRCA variants.
Article
Multidisciplinary Sciences
Terhi Aino-Sofia Pallonen, Salla Maria Matleena Lempiainen, Titta Kristiina Joutsiniemi, Riitta Irmeli Aaltonen, Pia Erika Pohjola, Minna Kristiina Kankuri-Tammilehto
Summary: This study analyzed the histopathological, clinical, and genetic characteristics of hereditary breast and ovarian cancer patients in the southwestern Finland population. The results showed that BRCA1 carriers have earlier onset of breast and ovarian cancer compared to BRCA2 carriers. BRCA PV increases the risk of both ovarian and breast cancer. BRCA1 carriers have a higher incidence of triple-negativity, while BRCA2 carriers have a higher risk of bilateral breast cancer. A significant proportion of BRCA1 and BRCA2 families have unique pathogenic variants.
SCIENTIFIC REPORTS
(2022)
Review
Oncology
Zhewen Feng, Xiaobao Yang, Mingwei Tian, Na Zeng, Zhigang Bai, Wei Deng, Yanyan Zhao, Jianru Guo, Yingchi Yang, Zhongtao Zhang, Yun Yang
Summary: This study conducted a systematic review and meta-analysis to investigate the association between BRCA1 and BRCA2 gene mutations and colorectal cancer risk. The results showed a significant increase in the frequency of BRCA1 and BRCA2 mutations in colorectal cancer patients. Therefore, the study suggests that BRCA genes could be potential candidates for inclusion in colorectal cancer genetic testing panels.
Article
Radiology, Nuclear Medicine & Medical Imaging
Akshya Gupta, Priyanka Jha, Timothy M. Baran, Katherine E. Maturen, Krupa Patel-Lippmann, Hanna M. Zafar, Aya Kamaya, Neha Antil, Lisa Barroilhet, Elizabeth Sadowski
Summary: The study explored the efficacy of using a US classification schema of classic versus nonclassic appearance for ovarian lesions, showing that isolated nonclassic lesions with blood flow in women older than 60 years had the highest risk of cancer.
Article
Medicine, General & Internal
Hiroyuki Yamazaki, Tsuneyuki Wada, Hiroshi Asano, Hiromasa Fujita, Kazuhira Okamoto, Hidemichi Watari
Summary: The study found a high concordance between urine hrHPV-DNA test and cervical hrHPV test in ASC-US patients, suggesting that urine testing could substitute cervical testing and improve screening rates.
Article
Radiology, Nuclear Medicine & Medical Imaging
Yiming Gao, Naziya Samreen, Samantha L. Heller
Summary: The incidence of breast cancer in younger women is increasing, mainly driven by an increase in luminal cancer. Poorer survival rates and an increase in stage IV disease among younger women with even early-stage luminal cancers suggest distinct biological characteristics. Pregnancy-associated breast cancer is also a contributing factor to the rise in early-onset breast cancer. The importance of early education and awareness is emphasized.
Article
Oncology
Matteo Lambertini, Marcello Ceppi, Anne-Sophie Hamy, Olivier Caron, Philip D. Poorvu, Estela Carrasco, Albert Grinshpun, Kevin Punie, Christine Rousset-Jablonski, Alberta Ferrari, Shani Paluch-Shimon, Angela Toss, Claire Senechal, Fabio Puglisi, Katarzyna Pogoda, Jose Alejandro Perez-Fidalgo, Laura De Marchis, Riccardo Ponzone, Luca Livraghi, Maria Del Pilar Estevez-Diz, Cynthia Villarreal-Garza, Maria Vittoria Dieci, Florian Clatot, Francois P. Duhoux, Rossella Graffeo, Luis Teixeira, Octavi Cordoba, Amir Sonnenblick, Arlindo R. Ferreira, Ann H. Partridge, Antonio Di Meglio, Claire Saule, Fedro A. Peccatori, Marco Bruzzone, Marie Daphne t'Kint de Roodenbeke, Lieveke Ameye, Judith Balmana, Lucia Del Mastro, Hatem A. Azim
Summary: The type of mBRCA gene and hormone receptor status strongly impact the clinical behavior and outcomes of young BC patients. This study provides important information for counseling on treatment, prevention, and surveillance strategies.
Article
Health Care Sciences & Services
Deirdre A. Hill, Jennifer S. Haas, Robert Wellman, Rebecca A. Hubbard, Christoph I. Lee, Jennifer Alford-Teaster, Karen J. Wernli, Louise M. Henderson, Natasha K. Stout, Anna N. A. Tosteson, Karla Kerlikowske, Tracy Onega
JOURNAL OF GENERAL INTERNAL MEDICINE
(2018)
Article
Oncology
Leland E. Hull, Julie A. Lynch, Brygida B. Berse, Scott L. DuVall, Danielle S. Chun, Vicki L. Venne, Olga V. Efimova, Michael S. Icardi, Michael J. Kelley
CLINICAL BREAST CANCER
(2018)
Article
Public, Environmental & Occupational Health
Randy Miles, Fei Wan, Tracy L. Onega, Amanda Lenderink-Carpenter, Ellen S. O'Meara, Weiwei Zhu, Louise M. Henderson, Jennifer S. Haas, Deirdre A. Hill, Anna N. A. Tosteson, Karen J. Wernli, Jennifer Alford-Teaster, Janie M. Lee, Constance D. Lehman, Christoph I. Lee
JOURNAL OF WOMENS HEALTH
(2018)
Article
Pharmacology & Pharmacy
Leland E. Hull, Jason L. Vassy
PERSONALIZED MEDICINE
(2018)
Letter
Health Care Sciences & Services
Leland E. Hull, Kevin G. Lynch, David W. Oslin
JOURNAL OF GENERAL INTERNAL MEDICINE
(2019)
Article
Pharmacology & Pharmacy
Leland E. Hull, Catherine Chanfreau-Coffinier, Sony Tuteja, Dan Berlowitz, Lisa S. Lehmann, David W. Oslin, Jeffrey M. Pyne, Scott L. DuVall, Julie A. Lynch
Article
Pathology
Leland E. Hull, Jason L. Vassy, Annjanette Stone, Catherine C. Chanfreau-Coffinier, Craig W. Heise, Victoria M. Pratt, Ronald Przygodzki, Corrine Voils, Deepak Voora, Jessica Wang-Rodriguez, Steven A. Schichman, Maren T. Scheuner
JOURNAL OF MOLECULAR DIAGNOSTICS
(2020)
Article
Genetics & Heredity
Leland E. Hull, Pradeep Natarajan
Summary: This study examined the self-rated family health history knowledge among participants and identified disparities in knowledge levels based on different characteristics. Individuals assigned male sex at birth, those identifying as possible gender and sexual minorities, individuals of non-White race, individuals with lower household income, and those with lower educational attainment were more likely to have less or no family health history knowledge.
GENETICS IN MEDICINE
(2022)
Review
Medicine, General & Internal
Hannah G. Kirby, Heidi L. Rehm, Leland E. Hull
Summary: As patient access to lab testing outside the clinic increases, healthcare providers will face more questions about the usefulness and interpretation of consumer-initiated genetic testing for health risks. This study aimed to understand the variety of consumer-initiated germline genetic testing options available in the market. The researchers conducted an environmental scan to identify companies offering germline genetic tests for diagnosable health conditions, which could be purchased by consumers in the US without consulting healthcare providers. They found 21 companies offering 74 distinct test products that met their criteria, and only a minority of them assessed the presence of CDC Tier 1 conditions that have evidence-based guidelines for detection and management.
MAYO CLINIC PROCEEDINGS
(2023)
Article
Genetics & Heredity
Leland E. Hull, Kelsey Flannery, Anjali Kaimal, Karen Sepucha, Heidi L. Rehm, Jennifer S. Haas
Summary: In this study, the multilevel barriers to the widespread adoption of preconception reproductive genetic carrier screening (RGCS) in the United States were explored through key informant interviews. The barriers were identified at different levels, including test characteristics, patients and couples, clinicians and care teams, and the external health care and policy environments. Potential solutions were discussed by the informants, which may help to alleviate the obstacles.
GENETICS IN MEDICINE
(2023)
Article
Health Care Sciences & Services
Jordan M. Neil, Yuchiao Chang, Brett Goshe, Nancy Rigotti, Irina Gonzalez, Saif Hawari, Lauren Ballini, Jennifer S. Haas, Caylin Marotta, Amy Wint, Kim Harris, Sydney Crute, Efren Flores, Elyse R. Park
Summary: This study found that recruiting heavy smokers for a cessation trial using messages framed around the benefits of quitting was more effective in increasing intent to participate, as it increased affective risk response, leading to greater willingness to join the smoking cessation study.
JMIR FORMATIVE RESEARCH
(2021)
Article
Health Care Sciences & Services
Tracy Onega, Jennifer S. Haas, Asaf Bitton, Charles Brackett, Julie Weiss, Martha Goodrich, Kimberly Harris, Steve Pyle, Anna N. A. Tosteson
AMERICAN JOURNAL OF MANAGED CARE
(2017)