Article
Medicine, General & Internal
Jessica S. Merlin, Dmitry Khodyakov, Robert Arnold, Hailey W. Bulls, Emily Dao, Jennifer Kapo, Caroline King, Diane Meier, Judith Paice, Christine Ritchie, Jane M. Liebschutz
Summary: This study provides consensus-based guidance for clinicians in managing cancer pain in patients with opioid use disorder, highlighting critical research and policy gaps that need to be addressed for implementation.
Article
Genetics & Heredity
Alice Garrett, Miranda Durkie, Alison Callaway, George J. Burghel, Rachel Robinson, James Drummond, Bethany Torr, Cankut Cubuk, Ian R. Berry, Andrew J. Wallace, Sian Ellard, Diana M. Eccles, Marc Tischkowitz, Helen Hanson, Clare Turnbull
Summary: Accurate classification of variants in cancer susceptibility genes is crucial for estimating cancer risk and managing patients. The ACMG, UK-ACGS, and CanVIG-UK have improved consistency in evidence weighting. CanVIG-UK provides consensus recommendations, including consistent scoring for evidence combinations and new classification categories.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Nutrition & Dietetics
Rachel F. Rodgers, Valerie Goutama, Kendrin Sonneville
Summary: Eating behaviors and patterns are important indicators of health, yet there is a lack of a collective theoretical framework to understand and intervene upon these behaviors. This study used a Delphi methodology to establish a consensus-based framework for health-promoting eating behaviors. The findings resulted in a novel framework that can guide collaborative efforts towards integrating physical and mental health promotion.
Article
Genetics & Heredity
Helen Hanson, Angela F. Brady, Gillian Crawford, Rosalind A. Eeles, Sarah Gibson, Mette Jorgensen, Louise Izatt, Aslam Sohaib, Marc Tischkowitz, D. Gareth Evans
Summary: Constitutional pathogenic variants in TP53 are associated with high-risk cancer syndromes, requiring more intensive surveillance, including whole-body MRI and breast MRI.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Oncology
E. R. Copson, J. E. Abraham, J. P. Braybrooke, D. Cameron, S. A. Mcintosh, C. O. Michie, A. F. C. Okines, C. Palmieri, F. Raja, R. Roylance, Delphi Panellists
Summary: This study establishes a definition for high risk of recurrence in HER2-negative early breast cancer patients through expert consensus. The definition includes multiple risk factors and sets appropriate risk thresholds for different patient subgroups.
Review
Gastroenterology & Hepatology
Marina Hanna, Neelendu Dey, William M. Grady
Summary: Colorectal cancer is a common cancer globally and is a leading cause of cancer-related deaths. Current screening methods for colorectal cancer have limitations and many people are not compliant with screening recommendations. Novel screening tests based on advances in molecular biology, genetics, and epigenetics, as well as sequencing technologies and computational analytic methods, have been developed to improve early detection of colorectal cancer.
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY
(2023)
Article
Medicine, General & Internal
Jason D. Wright, Ling Chen, Ana Tergas, Alexander Melamed, Caryn M. St Clair, June Y. Hou, Fady Khoury-Collado, Allison Gockley, Melissa Accordino, Dawn L. Hershman
Summary: This cohort study explored the frequency of overuse of cervical cancer screening tests among commercially insured women with average risk. The findings showed that repeat screening was common within 36 months, but less common in older women, women with medical comorbidities, those screened in 2014, and those screened with cotesting. However, overuse of testing was more common in the Northeastern US and in women with more frequent outpatient visits.
Article
Critical Care Medicine
Peter J. Mazzone, Gerard A. Silvestri, Lesley H. Souter, Tanner J. Caverly, Jeffrey P. Kanne, Hormuzd A. Katki, Renda Soylemez Wiener, Frank C. Detterbeck
Summary: Low-dose chest CT screening for lung cancer has shown a favorable balance of benefit and harms, but factors such as the selection of screen-eligible individuals, imaging quality and interpretation, management of screen-detected findings, and effectiveness of smoking cessation interventions can impact this balance.
Article
Orthopedics
P. D. Mitchell, A. Abraham, C. Carpenter, P. D. Henman, J. Mavrotas, J. McCaul, A. Sanghrajka, T. Theologis
Summary: The aim of this study was to establish a consensus best practice approach for the investigation and management of children with musculoskeletal infection in the UK. A Delphi approach was used to determine consensus in three core aspects of care. The study resulted in 40 approved consensus statements.
BONE & JOINT JOURNAL
(2023)
Article
Biochemistry & Molecular Biology
Roseline Vibert, Jasmine Hasnaoui, Alexandre Perrier, Alexandra Lefebvre, Chrystelle Colas, Marion Dhooge, Noemie Basset, Albain Chansavang, Camille Desseignes, Alex Duval, Solenne Farelly, Nadim Hamzaoui, Pierre Laurent-Puig, Julie Metras, Diane Moliere, Martine Muleris, Jeanne Netter, Mehdi Touat, Franck Bielle, Karim Labreche, Romain Nicolle, Geraldine Perkins, Mathilde Warcoin, Florence Coulet, Patrick R. Benusiglio
Summary: Some patients with Lynch syndrome (LS) exhibit extreme phenotypes, such as cancer at an early age or cancer types without screening guidelines. This study investigated the role of additional germline variants in cancer susceptibility genes (CSG) in explaining these phenotypes. Comparison of LS patients with early-onset (EO) and usual-onset (UO) cancer diagnoses revealed an excess of pathogenic variants and variants of unknown significance in the gastrointestinal CSG for the EO group. Notable germline variants were identified, suggesting the consideration of additional variants in future screening recommendations to better assess cancer risk.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Surgery
Jessica A. Savage, Beverley J. Hunt, Gerard Stansby, John K. Dickson, John M. D. Henton, Judith Hunter, Kelvin Ramsey, Victoria Fung, Rachel Holt, Amer Hussain, Peter Kalu, Ashutosh Kotwal, Ewa Majdak-Paredes, Ciara McGoldrick, Mary Morgan, Dai Q. A. Nguyen, Ruth Waters, Sherif Wilson, Simon Mackey
Summary: This study used a Delphi process to establish a UK consensus on VTE prophylaxis strategy for autologous breast reconstruction using free-tissue transfer. The study captured geographically divergent views and produced a practical guide for VTE prophylaxis in microsurgical breast reconstruction in the UK.
JOURNAL OF PLASTIC RECONSTRUCTIVE AND AESTHETIC SURGERY
(2023)
Article
Oncology
Hannah C. Karpel, Jing-Yi Chern, Maria J. Smith, Julia A. Smith, Bhavana Pothuri
Summary: This study conducted multi-gene panel testing (MGPT) on patients with endometrial cancer (EC) and identified actionable mutations in Lynch syndrome (LS) genes as well as non-LS genes. The results not only provide important guidance for clinical management, but also improve the accuracy of hereditary cancer risk assessment.
GYNECOLOGIC ONCOLOGY
(2022)
Article
Horticulture
Prashant Bhandari, Reza Shekasteband, Tong Geon Lee
Summary: The first consensus genetic map in fresh-market tomato was constructed, showing variation in recombination rates between tomato populations. The consensus map spanned across 12 tomato chromosomes using 335 common SNP sites. An extended consensus genetic map was also developed by integrating 6553 SNP sites, providing important information for large-fruited fresh-market tomato.
JOURNAL OF THE AMERICAN SOCIETY FOR HORTICULTURAL SCIENCE
(2022)
Article
Oncology
Aakash P. Desai, Ronald S. Go, Thejaswi K. Poonacha
Summary: The guidelines provided by the National Comprehensive Cancer Network (NCCN) in 2019 mainly consist of Category 2A recommendations, which indicate lower levels of evidence but with uniform expert opinion, showing consistency with the previous study conducted in 2010.
INTERNATIONAL JOURNAL OF CANCER
(2021)
Article
Genetics & Heredity
Zishan Wang, Xiao Fan, Yufeng Shen, Meghana S. Pagadala, Rebecca Signer, Kamil J. Cygan, William G. Fairbrother, Hannah Carter, Wendy K. Chung, Kuan-Lin Huang
Summary: Through analyzing the germline genomes of adult cancer cases in the TCGA cohort, it was found that affected genes exhibited diverse pan-ancestry and population-specific patterns, with the European population showing the highest frequency of pathogenic/likely pathogenic variants. Additionally, expression consequences were identified, demonstrating that a substantial fraction of cases have expression-altering variants.
Article
Genetics & Heredity
Helen Hanson, Miranda Durkie, Fiona Lalloo, Louise Izatt, Terri P. McVeigh, Jackie A. Cook, Carole Brewer, James Drummond, Samantha Butler, Treena Cranston, Ruth Casey, Tricia Tan, Daniel Morganstein, Diana M. Eccles, Marc Tischkowitz, Clare Turnbull, Emma Roisin Woodward, Eamonn R. Maher
Summary: SDHA PGV carriers are common in patients with paraganglioma and phaeochromocytoma, and the variant often presents as sporadic tumors in patients without family history. Studies show that the penetrance of SDHA-associated tumors is low, which poses challenges for surveillance and management.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Genetics & Heredity
Bethany Torr, Christopher Jones, Subin Choi, Sophie Allen, Grace Kavanaugh, Monica Hamill, Alice Garrett, Suzanne MacMahon, Lucy Loong, Alistair Reay, Lina Yuan, Mikel Valganon Petrizan, Kathryn Monson, Nicky Perry, Lesley Fallowfield, Valerie Jenkins, Rochelle Gold, Amy Taylor, Rhian Gabe, Jennifer Wiggins, Anneke Lucassen, Ranjit Manchanda, Ashu Gandhi, Angela George, Michael Hubank, Zoe Kemp, D. Gareth Evans, Stephen Bremner, Clare Turnbull
Summary: This study introduces a rapid digital pathway for genetic testing in breast cancer patients, which improves the uptake of testing with the support of clinicians and a genetics specialist hotline. The results demonstrate high satisfaction and similar outcomes for both the fully digital and partially digital pathways.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Oncology
Pascal Pujol, Kevin Yauy, Amandine Coffy, Nicolas Duforet-Frebourg, Sana Gabteni, Jean-Pierre Daures, Frederique Penault Llorca, Frederic Thomas, Kevin Hughes, Clare Turnbull, Virginie Galibert, Chloe Rideau, Carole Corsini, Laetitia Collet, Benoit You, David Genevieve, Nicolas Philippe
Summary: The meta-analysis revealed a higher prevalence of gBRCA2 in unselected breast cancer patients. Additionally, the majority of tumors in breast cancer patients with gBRCA are estrogen receptor-positive.
Article
Oncology
C. Loveday, A. Garrett, P. Law, S. Hanks, E. Poyastro-Pearson, J. W. Adlard, J. Barwell, J. Berg, A. F. Brady, C. Brewer, C. Chapman, J. Cook, R. Davidson, A. Donaldson, F. Douglas, L. Greenhalgh, A. Henderson, L. Izatt, A. Kumar, F. Lalloo, Z. Miedzybrodzka, P. J. Morrison, J. Paterson, M. Porteous, M. T. Rogers, L. Walker, D. Eccles, D. G. Evans, K. Snape, H. Hanson, R. S. Houlston, C. Turnbull
Summary: This study is the largest case-control whole-exome analysis of breast cancer to date. While there may be additional breast cancer susceptibility genes, genes of high penetrance are likely to have very low mutational frequency.
ANNALS OF ONCOLOGY
(2022)
Article
Oncology
Z. Kuzbari, C. Bandlamudi, C. Loveday, A. Garrett, M. Mehine, A. George, H. Hanson, K. Snape, A. Kulkarni, S. Allen, S. Jezdic, R. Ferrandino, C. B. Westphalen, E. Castro, J. Rodon, J. Mateo, G. J. Burghel, M. F. Berger, D. Mandelker, C. Turnbull
Summary: The ESMO PMWG updated their recommendations on follow-up of putative germline variants detected on tumour-only sequencing, based on an analysis of an expanded dataset including 49,264 paired tumour-normal samples. They applied filters to tumour-detected variants and found that a subset of these variants can produce actionable true germline variants. They have revised the guidelines and included new genes for germline follow-up.
ANNALS OF ONCOLOGY
(2023)
Article
Oncology
Nasim Mavaddat, Lorenzo Ficorella, Tim Carver, Andrew Lee, Alex P. Cunningham, Michael Lush, Joe Dennis, Marc Tischkowitz, Kate Downes, Donglei Hu, Eric Hahnen, Rita K. Schmutzler, Tracy L. Stockley, Gregory S. Downs, Tong Zhang, Anna M. Chiarelli, Stig E. Bojesen, Cong Liu, Wendy K. Chung, Monica Pardo, Lidia Feliubadalo, Judith Balmana, Jacques Simard, Antonis C. Antoniou, Douglas F. Easton
Summary: BOADICEA model can identify women at higher or lower risk of developing breast cancer by incorporating PRS. Different variations of the PRS were evaluated, and logistic regression and retrospective likelihood approaches were used to estimate the parameters. The study showed that BOADICEA can be adapted to different PRS, providing a comprehensive breast cancer risk assessment.
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
(2023)
Article
Genetics & Heredity
Helen Hanson, Anjana Kulkarni, Lucy Loong, Grace Kavanaugh, Bethany Torr, Sophie Allen, Munaza Ahmed, Antonis C. Antoniou, Ruth Cleaver, Tabib Dabir, D. Gareth Evans, Ellen Golightly, Rosalyn Jewell, Kelly Kohut, Ranjit Manchanda, Alex Murray, Jennie Murray, Kai-Ren Ong, Adam N. Rosenthal, Emma Roisin Woodward, Diana M. Eccles, Clare Turnbull, Marc Tischkowitz, Fiona Lalloo
Summary: This paper presents a summary of the process and key recommendations from a national consensus on the clinical management of BRIP1, PALB2, RAD51D, and RAD51C carriers.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Genetics & Heredity
Lucy Loong, Catherine Huntley, Fiona McRonald, Francesco Santaniello, Joanna Pethick, Bethany Torr, Sophie Allen, Oliver Tulloch, Shilpi Goel, Brian Shand, Tameera Rahman, Margreet Luchtenborg, Alice Garrett, Richard Barber, Tin Bedenham, David Bourn, Kirsty Bradshaw, Claire Brooks, Jonathan Bruty, George J. Burghel, Samantha Butler, Chris Buxton, Alison Callaway, Jonathan Callaway, James Drummond, Miranda Durkie, Joanne Field, Lucy Jenkins, Terri P. McVeigh, Roger Mountford, Rodney Nyanhete, Evgenia Petrides, Rachel Robinson, Tracy Scott, Victoria Stinton, James Tellez, Andrew J. Wallace, Laura Yarram-Smith, Kate Sahan, Nina Hallowell, Diana M. Eccles, Paul Pharoah, Marc Tischkowitz, Antonis C. Antoniou, D. Gareth Evans, Fiona Lalloo, Gail Norbury, Eva Morris, John Burn, Steven Hardy, Clare Turnbull
Summary: This study describes the national patterns of NHS analysis of MMR genes in England using individual-level data submitted to NDRS by regional molecular genetics laboratories. The NDRS MMR dataset is a unique national amalgamation of clinical and genomic patient data, enabling data linkage to other national datasets. This resource can enable longitudinal research and form the basis of a live national genomic disease registry.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Oncology
Colin Y. C. Lee, Adriaan Olivier, Judith Honing, Anne-Marie Lydon, Susan Richardson, Maria O'Donovan, Marc Tischkowitz, Rebecca C. Fitzgerald, Massimiliano di Pietro
Summary: Hereditary diffuse gastric cancer, caused by CDH1 gene mutations, is characterized by early-onset signet ring cell carcinoma. Prophylactic total gastrectomy is the recommended treatment. This study assessed different sampling strategies for detecting signet ring cell carcinoma and identified criteria for characterizing endoscopic lesions in hereditary diffuse gastric cancer.
Article
Hematology
Beverley Speight, Helen Hanson, Clare Turnbull, Steven Hardy, James Drummond, Jamshid Khorashad, Christopher Wragg, Paula W. Page, Nicholas Parkin, Ana Rio-Machin, Jude Fitzgibbon, Austin Gladston Kulasekararaj, Angela Hamblin, Polly P. Talley, Terri McVeigh, Katie Snape
Summary: The implementation of whole genome sequencing and large somatic gene panels in haematological malignancies has led to the identification of individuals with potential germline predisposition to such diseases. However, there are currently no established guidelines for managing carriers of these variants or their at-risk relatives. To address this gap, a workshop was held to establish consensus guidelines on clinical and laboratory pathways for managing disease-causing germline variations. The workshop focused on specific genes and achieved high consensus on standardised reporting, variant classification, multidisciplinary team working, and patient support.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Genetics & Heredity
Laura Valle, Lior H. H. Katz, Andrew Latchford, Pilar Mur, Victor Moreno, Ian M. Frayling, Brandie Heald, Gabriel Capella
Summary: Constitutional pathogenic variants in the APC gene cause familial adenomatous polyposis, while APC c.3920T>A; p.Ile1307Lys (I1307K) is associated with a moderate increased risk of colorectal cancer (CRC), specifically in individuals of Ashkenazi Jewish descent. Different guidelines exist regarding genetic testing and clinical management for I1307K, due to inconclusive results in non-Ashkenazi populations. The International Society for Gastrointestinal Hereditary Tumors (InSiGHT) has generated a position statement on the APC I1307K allele to provide recommendations and address knowledge gaps.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Oncology
Catherine Huntley, Bethany Torr, Amit Sud, Charlie F. Rowlands, Rosalind Way, Katie Snape, Helen Hanson, Charles Swanton, John Broggio, Anneke Lucassen, Margaret McCartney, Richard S. Houlston, Aroon D. Hingorani, Michael E. Jones, Clare Turnbull
Summary: It is proposed that polygenic risk scores (PRSs), by targeting high-risk individuals, can improve the efficiency of cancer screening programs and expand their application to new age groups and types of cancer. This study presents an overview of the performance of PRS tools and the benefits and harms of PRS-stratified cancer screening for eight example cancers.
Editorial Material
Medicine, General & Internal
Amit Sud, Rachel H. Horton, Aroon D. Hingorani, Ioanna Tzoulaki, Clare Turnbull, Richard S. Houlston, Anneke Lucassen
BMJ-BRITISH MEDICAL JOURNAL
(2023)
Meeting Abstract
Oncology
B. Torr, S. Choi, S. Allen, M. Hamill, G. Kavanaugh, S. MacMahon, E. Poyastro-Pearson, L. Yuan, M. Valganon-Petrizan, A. George, V. A. Jenkins, L. Fallowfield, R. Manchanda, A. Gandhi, G. Evans, Z. Kemp, M. Hubank, C. Turnbull
ANNALS OF ONCOLOGY
(2023)
Article
Oncology
Alexey Larionov, Eleanor Fewings, James Redman, Mae Goldgraben, Graeme Clark, John Boice, Patrick Concannon, Jonine Bernstein, David V. Conti, Marc WECARE Study Collaborative Grp, Marc Tischkowitz
Summary: In this study, researchers used genetic sequencing technologies to investigate the hereditary causes of second breast cancer in individuals who do not have alterations in the main breast cancer genes (BRCA1, BRCA2 and PALB2). They found that younger women with second breast cancers had a higher number of inherited gene alterations compared to women with only one breast cancer. This study improves our understanding of the hereditary contribution to second breast cancers.
