Article
Medicine, General & Internal
Faiza Gaba, Samuel Oxley, Xinting Liu, Xin Yang, Dhivya Chandrasekaran, Jatinderpal Kalsi, Antonis Antoniou, Lucy Side, Saskia Sanderson, Jo Waller, Munaza Ahmed, Andrew Wallace, Yvonne Wallis, Usha Menon, Ian Jacobs, Rosa Legood, Dalya Marks, Ranjit Manchanda
Summary: This qualitative study explores the attitudes, experiences, and emotional well-being impact of unselected population-based personalised ovarian cancer risk prediction through genetic testing in the general population. The results show high satisfaction and reduced anxiety in low-risk individuals. Facilitators include ease of testing, learning about children's risk, and a desire to prevent disease. Barriers include changes in family dynamics, insurance, stigmatization, and personality traits associated with stress and worry.
Article
Oncology
Nina M. Clark, Emma A. Roberts, Catherine Fedorenko, Qin Sun, Marianne Dubard-Gault, Cynthia Handford, Rachel Yung, Heather H. Cheng, Jonathan G. Sham, Barbara M. Norquist, Meghan R. Flanagan
Summary: This retrospective cohort study evaluated the frequency of genetic testing in patients with breast, ovarian, pancreatic, and prostate cancers, and found an increase in testing over time. While guideline-concordant testing was high for breast cancer, there were gaps in concordance among patients with other cancers. Increasing provider and patient education, genetic counseling, and insurance coverage for testing among these patients may improve guideline adherence.
ANNALS OF SURGICAL ONCOLOGY
(2023)
Article
Oncology
Nina M. Clark, Emma A. Roberts, Catherine Fedorenko, Qin Sun, Marianne Dubard-Gault, Cynthia Handford, Rachel Yung, Heather H. Cheng, Jonathan G. Sham, Barbara M. Norquist, Meghan R. Flanagan
Summary: The frequency of genetic testing for potentially hereditary breast, ovarian, pancreatic, and prostate cancers has increased over time. While guideline-concordant testing is high for breast cancer, there are inconsistencies among patients with other cancers. Improving provider and patient education, genetic counseling, and insurance coverage may improve adherence to guidelines.
ANNALS OF SURGICAL ONCOLOGY
(2023)
Article
Medicine, General & Internal
Allison W. Kurian, Paul Abrahamse, Allison Furgal, Kevin C. Ward, Ann S. Hamilton, Rachel Hodan, Rachel Tocco, Lihua Liu, Jonathan S. Berek, Lily Hoang, Amal Yussuf, Lisa Susswein, Edward D. Esplin, Thomas P. Slavin, Scarlett L. Gomez, Timothy P. Hofer, Steven J. Katz
Summary: "Importance" recommends germline genetic testing for cancer patients to enable genetically targeted treatment and identify relatives who may benefit from personalized cancer screening and prevention. An observational study in California and Georgia from 2013 to 2019 found that only 6.8% of patients diagnosed with cancer underwent germline genetic testing, with lower testing rates among Asian, Black, and Hispanic patients compared to non-Hispanic White patients.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2023)
Review
Genetics & Heredity
Daria Grafodatskaya, Darren D. O'Rielly, Karine Bedard, Darci T. Butcher, Christopher J. Howlett, Alice Lytwyn, Elizabeth McCready, Jillian Parboosingh, Elizabeth L. Spriggs, Andrea K. Vaags, Tracy L. Stockley
Summary: This document provides considerations and recommendations for Canadian clinical laboratories developing, validating, and offering next-generation sequencing (NGS)-based BRCA1/2 tumor testing in ovarian cancers. It was drafted by the Canadian College of Medical Geneticists (CCMG) BRCA Ad Hoc Working Group and representatives from the Canadian Association of Pathologists, and approved by the CCMG board of directors. However, the current CCMG Practice Guidelines do not include all the information laboratories should consider when validating and using NGS for BRCA1/2 tumor testing in ovarian cancers.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Oncology
Robert D. Morgan, George J. Burghel, Nicola Flaum, Michael Bulman, Philip Smith, Andrew R. Clamp, Jurjees Hasan, Claire L. Mitchell, Zena Salih, Emma R. Woodward, Fiona Lalloo, Emma J. Crosbie, Richard J. Edmondson, Andrew J. Wallace, Gordon C. Jayson, D. Gareth R. Evans
Summary: This study validates the recommendation of testing for BRCA1/2 pathogenic variants in both blood and tumor samples in cases of non-mucinous epithelial ovarian cancer. The findings suggest that reflex tumor BRCA1/2 testing should be performed in all NMEOC cases, and germline BRCA testing may not be necessary for older women without identified tumor BRCA1/2 variants or a family history of specific cancers.
BRITISH JOURNAL OF CANCER
(2022)
Article
Biochemistry & Molecular Biology
Edith Borcoman, Elizabeth Santana dos Santos, Catherine Genestie, Patricia Pautier, Ludovic Lacroix, Sandrine M. Caputo, Odile Cabaret, Marine Guillaud-Bataille, Judith Michels, Aurelie Auguste, Alexandra Leary, Etienne Rouleau
Summary: Somatic and germline BRCA1/2 mutations are the best predictive biomarkers for PARP inhibitor efficacy. Combining tumor-based BRCA1/2 and TP53 mutation testing can improve the identification and interpretation of somatic BRCA mutations. This study identified a high percentage of pathogenic BRCA mutations in high-grade serous ovarian cancer patients and demonstrated the usefulness of TP53 allelic fraction in interpreting BRCA mutations and inferring loss of heterozygosity.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Oncology
Lieke Lanjouw, Marian J. E. Mourits, Joost Bart, Arja ter Elst, Lieke P. Berger, Annemieke H. van der Hout, Naufil Alam, Geertruida H. de Bock
Summary: This study aimed to evaluate the BRCA1/2 testing rates in patients with epithelial ovarian cancer and compare the rates between germline testing and tumor-first testing. The results showed suboptimal testing rates and indicated that patients with non-high-grade serous carcinoma were less likely to receive BRCA1/2 testing. This suggests that clinicians may not be adhering to the guidelines recommending testing for all patients with epithelial ovarian cancer.
INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER
(2023)
Article
Oncology
Robert D. D. Morgan, George J. J. Burghel, Nicola Flaum, Michael Bulman, Philip Smith, Andrew R. R. Clamp, Jurjees Hasan, Claire L. L. Mitchell, Zena Salih, Emma R. R. Woodward, Fiona Lalloo, Emma J. J. Crosbie, Richard J. J. Edmondson, Helene Schlecht, Gordon C. C. Jayson, D. Gareth R. Evans
Summary: Approximately 15% of patients diagnosed with high-grade non-mucinous epithelial ovarian cancer (EOC) have a germline BRCA1/2 mutation, with somatic mutations occurring more frequently in patients aged >= 80. Germline BRCA1/2 testing in this age group can be reserved for those with a detectable tumour BRCA1/2 mutation. Testing for tumour BRCA1/2 and homologous recombination deficiency is sufficient for patients aged >= 80 with non-mucinous high-grade EOC.
Article
Oncology
Hee-Sung Ahn, Jung Yoon Ho, Jiyoung Yu, Jeonghun Yeom, Sanha Lee, Soo Young Hur, Yuyeon Jung, Kyunggon Kim, Youn Jin Choi
Summary: Most hereditary ovarian cancer is associated with BRCA1/2 variants, and plasma protein biomarkers, specifically SPARC and THBS1, may indicate increased risk of developing ovarian cancer in BRCA1/2 carriers. Monitoring these protein concentrations could potentially help in deciding whether to undergo oophorectomy for disease prevention.
Article
Biochemical Research Methods
Julien St-Pierre, Karim Oualkacha, Sahir Rai Bhatnagar
Summary: This study introduces a new method called pglmm, a penalized generalized linear mixed model that allows simultaneous selection of genetic markers and estimation of their effects, taking into account between-individual correlations and binary traits. Simulation and data analysis results show that pglmm outperforms other methods in terms of predictive performance in high-dimensional settings.
Article
Oncology
Felix Blanc-Durand, Roseline Tang, Margaux Pommier, Marzieh Nashvi, Sophie Cotteret, Catherine Genestie, Audrey Le Formal, Patricia Pautier, Judith Michels, Maria Kfoury, Robert Herve, Sylvie Mengue, Estelle Wafo, Antoine Elies, Gregoire Miailhe, Jennifer Uzan, Etienne Rouleau, Alexandra Leary
Summary: This study investigated the correlation between BRCA1 promoter methylation levels and HRD status and clinical behavior in patients with high-grade ovarian cancer. The results showed that high levels of methylation were positively correlated with HRD status and response to PARPi treatment.
CLINICAL CANCER RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Yadav Sapkota, Weiyu Qiu, Stephanie B. Dixon, Carmen L. Wilson, Zhaoming Wang, Jinghui Zhang, Wendy Leisenring, Eric J. Chow, Smita Bhatia, Gregory T. Armstrong, Leslie L. Robison, Melissa M. Hudson, Angela Delaney, Yutaka Yasui
Summary: A report from large cohorts of adult survivors of childhood cancer demonstrates that genetic risk scores improve the risk prediction of developing severe obesity, providing opportunities for surveillance and mitigation interventions.
Article
Genetics & Heredity
Nicola Flaum, John Bowes, Miriam J. Smith, Emma J. Crosbie, Richard Edmondson, Artitaya Lophatananon, D. Gareth Evans
Summary: This study evaluated the association between BRCA1/2 heterozygotes and familial epithelial ovarian cancer (EOC) by constructing modified polygenic risk scores (PRS) validated by Barnes et al. It was found that combining PRS with age, family history, and hormonal factors significantly improved the discrimination ability of EOC risk, although the contribution of PRS was small. Larger prospective studies are needed to assess the usefulness of combined-PRS models in risk-reducing decisions.
GENETICS IN MEDICINE
(2023)
Article
Oncology
Per E. Lonning, Oleksii Nikolaienko, Kathy Pan, Allison W. Kurian, Hans P. Eikesdal, Mary Pettinger, Garnet L. Anderson, Ross L. Prentice, Rowan T. Chlebowski, Stian Knappskog
Summary: This study found a significant association between constitutional normal tissue BRCA1 promoter methylation and the risk of developing triple-negative breast cancer (TNBC) and high-grade serous ovarian cancer (HGSOC).
Article
Genetics & Heredity
Belinda Rahman, Anne Lanceley, Rebecca S. Kristeleit, Jonathan A. Ledermann, Michelle Lockley, Mary McCormack, Tim Mould, Lucy Side
JOURNAL OF MEDICAL GENETICS
(2019)
Article
Oncology
Dimitrios A. Koutoukidis, Rebecca J. Beeken, Ranjit Manchanda, Matthew Burnell, Nida Ziauddeen, Moscho Michalopoulou, M. Tish Knobf, Anne Lanceley
INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER
(2019)
Article
Obstetrics & Gynecology
Jacqueline A. Nicholls, Anna L. David, Joseph Iskaros, Dimitrios Siassakos, Anne Lanceley
Summary: This study found that ante-natal consultations for interventions focus heavily on clinical framing and risk, while exploring the woman-centered narrative less effectively. Healthcare professionals need to pay more attention to the preferences and values of pregnant women during consent consultations to meet the requirements of UK law.
BMC PREGNANCY AND CHILDBIRTH
(2021)
Editorial Material
Oncology
Chris Jacobs, Belinda Rahman
EUROPEAN JOURNAL OF CANCER CARE
(2021)
Article
Obstetrics & Gynecology
Sophie Kennedy, Anne Lanceley, Melissa Whitten, Clodagh Kelly, Jacqueline Nicholls
Summary: Healthcare professionals in the labour ward tend to view consent as an agreement process rather than an exercise of choice, and often lack knowledge of the implications of current law. Communicating risks with women in an appropriate way at an appropriate time poses challenges, threatening the lawfulness of consent. Specialist training is recommended to assist professionals in providing timely consultation dialogues that respect women's right to choose.
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY
(2021)
Article
Oncology
Yeh Chen Lee, Madeleine T. King, Rachel L. O'Connell, Anne Lanceley, Florence Joly, Felix Hilpert, Alison Davis, Felicia T. Roncolato, Aikou Okamoto, Jane Bryce, Paul Donnellan, Amit M. Oza, Elisabeth Avall-Lundqvist, Jonathan S. Berek, Jonathan A. Ledermann, Dominique Berton, Jalid Sehouli, Amanda Feeney, Marie-Christine Kaminsky, Katrina Diamante, Martin R. Stockler, Michael L. Friedlander
Summary: The study aimed to evaluate the effects of chemotherapy on symptoms and health-related quality of life in women with platinum resistant/refractory recurrent ovarian cancer and those with chemotherapy 3 lines or more. The results showed that over 50% of the participants reported abdominal and psychological symptoms, with 40% experiencing improvements within 2 months of starting chemotherapy.
INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER
(2022)
Review
Pharmacology & Pharmacy
Belinda Rahman, Alison McEwen, Jane L. Phillips, Katherine Tucker, David Goldstein, Chris Jacobs
Summary: Genetic and genomic data are increasingly guiding clinical care for cancer patients, with patient-facing oncology staff leading the provision of genomic testing. Oncologists and oncology nurses need tailored support, education, and training in genomics to improve confidence and skills in adopting genomic testing into clinical practice. Empirical research specific to oncology nurses and their learning needs in tumor sequencing is lacking.
PERSONALIZED MEDICINE
(2021)
Article
Anthropology
Ignacia Arteaga, Sahra Gibbon, Anne Lanceley
MEDICAL ANTHROPOLOGY
(2022)
Article
Psychology, Social
Soumitra Shankar Datta, Lindsay Fraser, Matthew Burnell, Shazia Nasreen, Manisha Ghosh, Aparupa Ojha, Tania Saha, Asima Mukhopadhyay, Anne Lanceley, Usha Menon
Summary: This study aimed to explore the association between adult attachment patterns and delays in accessing specialist oncology care in patients with ovarian cancer (OC). The results showed that higher attachment anxiety scores and being part of a multigenerational extended household were independently associated with delay in presentation to a cancer specialist. This finding highlights the importance of enhancing awareness and interaction with patients with insecure attachment styles in primary care.
JOURNAL OF PSYCHOSOCIAL ONCOLOGY
(2022)
Article
Obstetrics & Gynecology
Jacqueline Nicholls, Anna L. David, Joseph Iskaros, Anne Lanceley
Summary: This study investigated healthcare professionals' views and experiences of the consent process in antenatal and intrapartum care. The results indicate that there is a mismatch between what is required and what can be achieved in practice, highlighting the need for more support for healthcare professionals.
BMC PREGNANCY AND CHILDBIRTH
(2022)
Article
Oncology
Pratyusha Saha, Jameela Sheikh, Meghnaa Hebbar, Sudha Sundar, Anne Lanceley
Summary: The study explores the concerns of gynaecological cancer patients during COVID-19, highlighting their anxieties over treatment changes and the positive role of cancer charities in providing support through digital and conventional means. Real-time analysis of charity communications can help identify patient concerns and facilitate proactive support from healthcare providers.
EUROPEAN JOURNAL OF CANCER CARE
(2022)
Review
Psychology, Clinical
Sarah Davis, Marc Serfaty, Joe Low, Megan Armstrong, Nuriye Kupeli, Anne Lanceley
Summary: This study provides an overview of psychological distress in advanced cancer patients. The results suggest that experiential avoidance (EA) may be beneficial in the short term to alleviate distress but can impair function and limit engagement in life in the longer term. The study highlights the importance of understanding the complexity of EA behaviors and defining EA precisely for clinicians and researchers.
INTERNATIONAL JOURNAL OF BEHAVIORAL MEDICINE
(2023)
Article
Oncology
Merel van Klinken, Emma Hafkamp, Anne Gualtherie van Weezel, Sarah Hales, Anne Lanceley, Gary Rodin, Christian Schulz-Quach, Froukje de Vries
Summary: This study assessed the feasibility and acceptability of CALM-N for oncology nurses and its impact on professional wellbeing. The results showed that CALM-N is a feasible and acceptable intervention for oncology nurses, with the potential to improve nurse-patient communication and the nurses' reflective capacities.
SEMINARS IN ONCOLOGY NURSING
(2023)
Article
Psychology, Clinical
Chloe Shaw, Chris Lo, Anne Lanceley, Sarah Hales, Gary Rodin
JOURNAL OF CONTEMPORARY PSYCHOTHERAPY
(2020)