Article
Oncology
Simone Weinmann, Shannon Phillips, Kevin Sweet, Casey M. Cosgrove, Leigha Senter
Summary: This study explores the feasibility of hospital-based genetic counseling and testing through letter and telephone contact with surrogates. The results show that this traceback approach is time-intensive and has a low uptake of GC/T. Health systems should consider collecting alternative contact information for electronic communication and emphasize the importance of timely GC/T during active cancer care.
GYNECOLOGIC ONCOLOGY
(2022)
Article
Oncology
Michaela Bercovitch Sadinsky, Joanne Power, Enza Ambrosio, Laura Palma, Xing Zeng, William D. Foulkes, Evan Weber
Summary: Participants in the model for tubo-ovarian cancer did not experience decision regret and were satisfied with the genetic testing model. They reported low levels of uncertainty and distress, supporting the continued implementation of genetic testing models.
Article
Obstetrics & Gynecology
Monika Sobocan, Dhivya Chandrasekaran, Michail Sideris, Oleg Blyuss, Caitlin Fierheller, Ashwin Kalra, Jacqueline Sia, Rowan E. Miller, Tina Mills-Baldock, Shanthini M. Crusz, Li Sun, Olivia Evans, Sadiyah Robbani, Lucy A. Jenkins, Munaza Ahmed, Ajith Kumar, Mary Quigley, Michelle Lockley, Asma Faruqi, Laura Casey, Elly Brockbank, Saurabh Phadnis, Giorgia Trevisan, Naveena Singh, Rosa Legood, Ranjit Manchanda
Summary: A study on decision aids for genetic testing in ovarian cancer diagnosis showed that a longer decision aid (DA) leads to higher patient satisfaction without increasing emotional distress. Older patients, those undergoing treatment or experiencing recurrence preferred shorter DAs.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2023)
Article
Oncology
Teresa S. S. Chai, Kanhua Yin, Mackenzie Wooters, Kristen M. M. Shannon, Kevin S. S. Hughes
Summary: This study evaluated the impact of mainstreamed genetic testing (MGT) on the timing and uptake of testing in an academic breast surgeon's practice. It found that implementing MGT can reduce the number of clinical visits, significantly shorten patients' wait time to test initiation, and increase the completion of genetic testing. The study also showed that a significantly higher proportion of patients consented to genetic testing in the post-MGT phase, but the proportion of patients who tested positive was lower.
Review
Health Care Sciences & Services
Rachele M. Hendricks-Sturrup, Lucson Joseph, Christine Y. Lu
Summary: This study systematically reviewed 24 studies involving 4279 participants, examining PROs following genetic testing for FH, breast, and ovarian cancer syndrome, as well as Lynch syndrome, identifying important gaps and themes in the literature.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Oncology
Dhivya Chandrasekaran, Monika Sobocan, Oleg Blyuss, Rowan E. Miller, Olivia Evans, Shanthini M. Crusz, Tina Mills-Baldock, Li Sun, Rory F. L. Hammond, Faiza Gaba, Lucy A. Jenkins, Munaza Ahmed, Ajith Kumar, Arjun Jeyarajah, Alexandra C. Lawrence, Elly Brockbank, Saurabh Phadnis, Mary Quigley, Fatima El Khouly, Rekha Wuntakal, Asma Faruqi, Giorgia Trevisan, Laura Casey, George J. Burghel, Helene Schlecht, Michael Bulman, Philip Smith, Naomi L. Bowers, Rosa Legood, Michelle Lockley, Andrew Wallace, Naveena Singh, D. Gareth Evans, Ranjit Manchanda
Summary: Multigene testing in ovarian cancer, especially after counselling by multidisciplinary clinical teams, shows a high uptake rate of 97% and identifies a significant proportion of patients with pathogenic variants such as BRCA1/BRCA2, RAD51C/RAD51D/BRIP1. Prospective parallel somatic and germline panel testing is recommended to maximize variant identification in cancer patients.
Article
Biochemistry & Molecular Biology
Dongjo Ban, Stephen N. Housley, John F. McDonald
Summary: The study aims to comprehensively examine the nucleotide and chromosomal variation associated with the onset and progression of serous ovarian cancer. Computational and statistical methods were used to analyze the exome sequence profiles of genetic variants in 432 ovarian cancer patient samples. The results show that genetic variation is a significant contributor to ovarian cancer and can be used as a predictor of tumor aggressiveness and resistance to chemotherapy.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Biochemistry & Molecular Biology
Iason Psilopatis, Alexandros G. G. Sykaras, Georgios Mandrakis, Kleio Vrettou, Stamatios Theocharis
Summary: Ovarian cancer is the leading cause of death among gynecological malignancies. Organoids are three-dimensional cell culture models derived from stem cells that can reflect the biology and pathology of primary ovarian tissue, making them a valuable tool for studying the disease and conducting drug screenings.
Article
Computer Science, Information Systems
Ciaran B. Trace, Yan Zhang, Siqi Yi, Marian Yvette Williams-Brown
Summary: This study interviewed 21 ovarian cancer patients and found that their information practices around cancer genetic testing varied in terms of their information-seeking mode, sources utilized, assessment, and use. Three distinct styles were identified: passive, semi-active, and active. Multiple levels of influences, including personal, interpersonal, organizational, community, and societal, acted as motivators or barriers to patients' information practice.
JOURNAL OF THE ASSOCIATION FOR INFORMATION SCIENCE AND TECHNOLOGY
(2023)
Article
Genetics & Heredity
Nicola Flaum, Emma J. Crosbie, Richard Edmondson, Emma R. Woodward, Fiona Lalloo, Miriam J. Smith, Helene Schlecht, D. Gareth Evans
Summary: This study reviewed the genetic testing of women with familial epithelial ovarian cancer (EOC) at a center. One-fifth of BRCA-negative women carried potentially actionable gene variants. Wider genetic testing of women with familial EOC is essential for optimizing treatment and preventing disease in family members.
GENETICS IN MEDICINE
(2022)
Article
Health Care Sciences & Services
Eloise Chapman-Davis, Zhen Ni Zhou, Jessica C. Fields, Melissa K. Frey, Bailey Jordan, Katherine J. Sapra, Sudeshna Chatterjee-Paer, Ann D. Carlson, Kevin M. Holcomb
Summary: Minority patients were more likely to utilize genetic services following a cancer diagnosis and less likely due to family cancer history. There were no significant differences in mutation rates among different racial/ethnic groups, except for higher rates of cancer screening and risk-reducing surgery among non-White patients with BRCA1/2 mutations.
JOURNAL OF GENERAL INTERNAL MEDICINE
(2021)
Article
Medicine, General & Internal
Iolia Akaev, Siavash Rahimi, Olubukola Onifade, Francis John Edward Gardner, David Castells-Rufas, Eleanor Jones, Shyamika Acharige, Chit Cheng Yeoh
Summary: This study evaluated the usefulness of testing for pathogenic mutations in BRCA1/2 genes in ovarian cancer patients. The data showed that expanding molecular services to routine first-tumor testing in OC patients can potentially increase the detection rate of BRCA mutations, particularly for high-grade epithelial cancer patients.
Article
Endocrinology & Metabolism
Reena Perchard, Philip George Murray, Peter Ellis Clayton
Summary: The evaluation of short children involves determining whether growth parameters are abnormal and conducting system and hormonal tests, as well as more targeted testing. Genetic analysis may be necessary for children whose diagnosis remains unclear. New genetic causes for short stature are continuously being discovered, expanding the clinical spectrum for known genes. The establishment of an international repository for short stature conditions is recommended for dissemination of knowledge and defining clinical spectrum.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Oncology
Allison W. Kurian, Kevin C. Ward, Paul Abrahamse, Irina Bondarenko, Ann S. Hamilton, Dennis Deapen, Monica Morrow, Jonathan S. Berek, Timothy P. Hofer, Steven J. Katz
Summary: Genetic testing plays a crucial role in risk reduction and treatment for breast and ovarian cancer, but there are gaps in its evolving use, particularly in the increasing rates of variants of uncertain significance (VUS) and pathogenic variants (PVs). Testing trends show a gradual increase over the years, with a widening racial or ethnic gap seen in VUS results. In conclusion, there is a need for quality improvement in genetic testing to focus on indicated patients rather than simply adding more genes to the testing panel.
JOURNAL OF CLINICAL ONCOLOGY
(2021)
Review
Economics
Andreas Koldehoff, Marion Danner, Daniele Civello, Kerstin Rhiem, Stephanie Stock, Dirk Mueller
Summary: This study evaluated the results and quality of cost-effectiveness modeling studies on targeted genetic-based screen-and-treat strategies for preventing breast and ovarian cancer. The findings suggest that targeted BRCA or multiple gene screening is likely to be cost-effective. Methodological variations could be decreased by developing a reference model for future validation of cost-effectiveness models.
Article
Oncology
Jonathan Shamash, Wendy Ansell, Constantine Alifrangis, Benjamin Thomas, Peter Wilson, Sara Stoneham, Danish Mazhar, Anne Warren, Tristan Barrett, Susanna Alexander, Sarah Rudman, Michelle Lockley, Daniel Berney, Anju Sahdev
Summary: The study reviewed 10 years of discussions by the germ cell supranetwork multidisciplinary team (SMDT) and found that the team's work has led to improved outcomes and refined treatment for patients with germ cell tumors. The large number of cases reviewed and the specialized reviews in various aspects have positively impacted patient treatment.
BRITISH JOURNAL OF CANCER
(2021)
Article
Oncology
Constantine Alifrangis, Anand Sharma, Shafi Chowdhury, Sarah Duncan, Marina Milic, Andrew Gogbashian, Samita Agarwal, Anju Sahdev, Peter Wilson, Stephen Harland, Sara Stoneham, Michelle Lockley, Gordon Rustin, Timothy Oliver, Daniel Berney, Jonathan Shamash
Summary: This study evaluated the use of single-agent carboplatin AUC10 for metastatic seminoma and found that it had similar efficacy to established therapies with a potentially lower toxicity profile. The major acute toxicity was myelosuppression.
EUROPEAN JOURNAL OF CANCER
(2022)
Article
Obstetrics & Gynecology
Samuel G. Oxley, Yaa A. Achampong, Nikola Sambandan, Daniel J. Hughes, Mari Thomas, Michelle Lockley, Adeola Olaitan
Summary: This study revealed a high rate of preventable venous thromboembolism, including pulmonary embolism, in patients with ovarian cancer undergoing neoadjuvant chemotherapy. Age, body mass index, smoking, and other comorbidities were not significantly associated with the risk of venous thromboembolism. Prospective assessment of thromboprophylaxis during neoadjuvant chemotherapy is needed to prevent these complications.
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA
(2021)
Letter
Oncology
Michelle Lockley, Sara Stoneham, Jonathan Shamash, Farzana Pashankar, Lindsay Frazier
EUROPEAN JOURNAL OF CANCER
(2021)
Article
Oncology
Dhivya Chandrasekaran, Monika Sobocan, Oleg Blyuss, Rowan E. Miller, Olivia Evans, Shanthini M. Crusz, Tina Mills-Baldock, Li Sun, Rory F. L. Hammond, Faiza Gaba, Lucy A. Jenkins, Munaza Ahmed, Ajith Kumar, Arjun Jeyarajah, Alexandra C. Lawrence, Elly Brockbank, Saurabh Phadnis, Mary Quigley, Fatima El Khouly, Rekha Wuntakal, Asma Faruqi, Giorgia Trevisan, Laura Casey, George J. Burghel, Helene Schlecht, Michael Bulman, Philip Smith, Naomi L. Bowers, Rosa Legood, Michelle Lockley, Andrew Wallace, Naveena Singh, D. Gareth Evans, Ranjit Manchanda
Summary: Multigene testing in ovarian cancer, especially after counselling by multidisciplinary clinical teams, shows a high uptake rate of 97% and identifies a significant proportion of patients with pathogenic variants such as BRCA1/BRCA2, RAD51C/RAD51D/BRIP1. Prospective parallel somatic and germline panel testing is recommended to maximize variant identification in cancer patients.
Article
Multidisciplinary Sciences
Beatrice Malacrida, Sam Nichols, Eleni Maniati, Roanne Jones, Robin Delanie-Smith, Reza Roozitalab, Eleanor J. Tyler, Morgan Thomas, Gina Boot, Jonas Mackerodt, Michelle Lockley, Martin M. Knight, Frances R. Balkwill, Oliver M. T. Pearce
Summary: The team developed a four-cell culture model to investigate the role of platelets in malignant cell invasion and extracellular matrix production, revealing their promotion of factors associated with poor prognosis. They found that platelet activation is critical in stimulating malignant cell invasion and successfully dissected the roles of malignant cells and mesothelial cells.
Article
Multidisciplinary Sciences
Eszter Lakatos, Helen Hockings, Maximilian Mossner, Weini Huang, Michelle Lockley, Trevor A. Graham
Summary: LiquidCNA is a novel method for tracking subclonal evolution by measuring cfDNA in liquid biopsies, allowing minimally invasive monitoring of tumor dynamics during therapy. It is easy to use, cost-effective, and enables continuous monitoring of subclonal evolution without requiring complex data information, providing insights into and control over therapy-induced resistance.
Article
Oncology
Zhao Cheng, Hasan Mirza, Darren P. Ennis, Philip Smith, Lena Morrill Gavarro, Chishimba Sokota, Gaia Giannone, Theodora Goranova, Thomas Bradley, Anna Piskorz, Michelle Lockley, Baljeet Kaur, Naveena Singh, Laura A. Tookman, Jonathan Krell, Jacqueline McDermott, Geoffrey Macintyre, Florian Markowetz, James D. Brenton, Iain A. McNeish
Summary: Late-stage and early-stage high-grade serous carcinomas (HGSCs) of the ovary exhibit highly similar patterns of mutation and copy-number alterations. However, late-stage HGSCs show distinct copy-number signature exposures consistent with whole-genome duplication. Further analysis is needed to determine whether these differences reflect genuine biological disparities between early-stage and late-stage disease or simply markers of evolutionary fitness over time.
CLINICAL CANCER RESEARCH
(2022)
Article
Obstetrics & Gynecology
Radha Graham, Nicola D. MacDonald, Michelle Lockley, Rowan Miller, John Butler, Krithika Murali, Shah-Jalal Sarker, Susana Banerjee, Sara Stoneham, Jonathan Shamash, Viola Liberale, Daniel M. Berney, Claire Newton
Summary: This study retrospectively investigated the surgical management of stage 1 malignant ovarian germ cell tumours in four major UK gynaecology oncology centres over 12 years. The results showed that the absence of surgical staging did not affect disease-free survival or overall survival, and ovarian cystectomy may have a role in the management of immature teratoma.
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY
(2022)
Article
Oncology
J. I. Hoare, H. Hockings, J. Saxena, V. L. Silva, M. J. Haughey, G. E. Wood, F. Nicolini, H. Mirza, I. A. McNeish, W. Huang, E. Maniati, T. A. Graham, M. Lockley
Summary: This study utilized high grade serous ovarian cancer as a disease model to create clinically relevant and usable models of chemotherapy resistance. The findings suggest that gene expression changes in the tumor microenvironment contribute to the fitness advantage during platinum therapy and that cancer cell-intrinsic mechanisms influence the tumor microenvironment during the evolution of drug resistance.
GYNECOLOGIC ONCOLOGY
(2022)
Letter
Pediatrics
Radha Graham, Sara Stoneham, Michelle Lockley, Nicola Macdonald
JOURNAL OF PEDIATRIC SURGERY
(2023)
Article
Oncology
Adriana Fonseca, Joao Lobo, Florette K. Hazard, Joanna Gell, Peter K. Nicholls, Robert S. Weiss, Lindsay Klosterkemper, Samuel L. Volchenboum, James C. Nicholson, A. Lindsay Frazier, James F. Amatruda, Aditya Bagrodia, Michelle Lockley, Matthew J. Murray
Summary: Germ cell tumours (GCTs) are rare neoplasms that occur in different anatomical sites and across various age groups. The lack of collaboration between medical professionals and limited cohort numbers hinder the understanding of management and therapeutic advances for GCTs. The Malignant Germ Cell International Consortium aims to create a global research infrastructure to facilitate the acquisition of tissue and liquid biopsies, along with clinical data, to improve patient outcomes through international collaborations.
BRITISH JOURNAL OF CANCER
(2022)
Review
Oncology
Farzana Pashankar, Krisztina Hanley, Michelle Lockley, Sara Stoneham, Marisa R. Nucci, Miguel Reyes-Mugica, Esther Elishaev, Russell Vang, Jennifer Veneris, Heather Rytting, Thomas Olson, Kim Hazard, Al Covens, Rupali Arora, Deborah Billmire, Alyaa Al-Ibraheemi, Thomas M. Ulbright, Lindsay Frazier, Michelle S. Hirsch
Summary: Ovarian immature teratoma is a rare subtype of germ cell tumour that presents challenges in diagnosis and management due to various pathological issues.
EUROPEAN JOURNAL OF CANCER
(2022)
Article
Genetics & Heredity
Sue Philpott, Maria Raikou, Ranjit Manchanda, Michelle Lockley, Naveena Singh, Malcolm Scott, D. Gareth Evans, Julian Adlard, Munaza Ahmed, Richard Edmondson, Emma Roisin Woodward, Athena Lamnisos, Janos Balega, Angela F. Brady, Aarti Sharma, Louise Izatt, Anjana Kulkarni, Vishakha Tripathi, Joyce S. Solomons, Kevin Hayes, Helen Hanson, Katie Snape, Lucy Side, Steve Skates, Alistair McGuire, Adam N. Rosenthal
Summary: This study aimed to evaluate the effectiveness and cost-effectiveness of ovarian cancer surveillance in BRCA1/2-heterozygous women deferring risk-reducing surgery. The results showed that surveillance in a real-world setting was feasible and demonstrated similar performance to research trials, effectively down-staging ovarian cancer and saving costs.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Oncology
Ellen Nuttall Musson, Rowan E. Miller, Marc R. Mansour, Michelle Lockley, Jonathan A. Ledermann, Elspeth M. Payne