Publication: Nature Genetics
Foad J. Rouhani, Xueqing Zou, Petr Danecek, Cherif Badja, Tauanne Dias Amarante, Gene Koh, Qianxin Wu, Yasin Memari, Richard Durbin, Inigo Martincorena, Andrew R. Bassett, Daniel Gaffney & Serena Nik-Zainal
11 August 2022
DNA damage caused by factors such as ultraviolet radiation affect nearly three-quarters of all stem cell lines derived from human skin cells, say Cambridge researchers, who argue that whole genome sequencing is essential for confirming if cell lines are usable. Read the full news story.View publication
Publication: Annals of Oncology
D. Gale, K. Heider, A. Ruiz-Valdepenas, S. Hackinger, M. Perry, G. Marsico, V. Rundell, J. Wulff, G. Sharma, H. Knock, J. Castedo, W. Cooper, H. Zhao, C.G. Smith, S. Garg, S. Anand, K. Howarth, D. Gilligan, S.V. Harden, D.M. Rassl, R.C. Rintoul, N. Rosenfeld
17 March 2022
Scientists from the Rosenfeld Group used a personalised blood test for patients, which is a type of liquid biopsy that can pick up tiny fragments of DNA that are released into the blood as tumours grow. This DNA, called circulating tumour DNA (ctDNA), can reveal the state of the tumour, its location and potentially its weaknesses, which could be used to select the best treatments. Read the full story.View publication
Publication: European Urology Open Science
Tristan Barrettab, Simon Paceyacde, Kelly Leonard, Jerome Wulff, Ionut-Gabriel Funinganacd, Vincent Gnanapragasam
10 February 2022
Active surveillance (AS) is a preferred management option for men with prostate cancer with favourable prognosis. However, nearly half of men on AS switch to treatment within 5 years, so therapeutic strategies to prevent or delay disease progression could be considered.
Researchers explored image-based tumour responses and the patient impact of short-duration androgen-targeted therapy to abrogate disease progression during AS.View publication
Stephen-John Sammut, Mireia Crispin-Ortuzar, Suet-Feung Chin, Elena Provenzano, Helen A. Bardwell, Wenxin Ma, Wei Cope, Ali Dariush, Sarah-Jane Dawson, Jean E. Abraham, Janet Dunn, Louise Hiller, Jeremy Thomas, David A. Cameron, John M. S. Bartlett, Larry Hayward, Paul D. Pharoah, Florian Markowetz, Oscar M. Rueda, Helena M. Earl & Carlos Caldas
7 December 2021
Breast cancers are complex ecosystems of malignant cells and tumour microenvironment.
The composition of these tumour ecosystems and interactions within them contribute to cytotoxic therapy response. Researchers collected clinical, digital pathology, genomic and transcriptomic profiles of pre-treatment biopsies of breast tumours from 168 patients treated with chemotherapy +/- HER2-targeted therapy prior to surgery.View publication
Publication: The Lancet Oncology
Elizabeth K Bancroft, Elizabeth C Page, Mark N Brook, Sarah Thomas, Natalie Taylor, Jennifer Pope, Jana McHugh, Ann-Britt Jones, Questa Karlsson, Susan Merson, Kai Ren Ong, Jonathan Hoffman, Camilla Huber, Lovise Maehle, Eli Marie Grindedal, Astrid Stormorken, D Gareth Evans, Jeanette Rothwell, Fiona Lalloo, Angela F Brady, Marion Bartlett, Katie Snape, Helen Hanson, Paul James, Joanne McKinley, Lyon Mascarenhas, Sapna Syngal, Chinedu Ukaegbu, Lucy Side, Tessy Thomas, Julian Barwell, Manuel R Teixeira, Louise Izatt, Mohnish Suri, Finlay A Macrae, Nicola Poplawski, Rakefet Chen-Shtoyerman, Munaza Ahmed, Hannah Musgrave, Nicola Nicolai, Lynn Greenhalgh, Carole Brewer, Nicholas Pachter, Allan D Spigelman, Ashraf Azzabi, Brian T Helfand, Dorothy Halliday, Saundra Buys, Teresa Ramon y Cajal, Alan Donaldson, Kathleen A Cooney, Marion Harris, John McGrath, Rosemarie Davidson, Amy Taylor, Peter Cooke, Kathryn Myhill, Matthew Hogben, Neil K Aaronson, Audrey Ardern-Jones, Chris H Bangma, Elena Castro, David Dearnaley, Alexander Dias, Tim Dudderidge, Diana M Eccles, Kate Green, Jorunn Eyfjord, Alison Falconer, Christopher S Foster, Henrik Gronberg, Freddie C Ha y, Oskar Johannsson, Vincent Khoo, Hans Lilja, Geoffrey J Lindeman, Jan Lubinski, Karol Axcrona, Christos Mikropoulos, Anita V Mitra, Clare Moynihan, Holly Ni Raghallaigh, Gad Rennert, Rebecca Collier, Judith Offman, Zsofia Kote-Jarai, Rosalind A Eeles,
19 October 2021
Lynch syndrome is a rare familial cancer syndrome caused by pathogenic variants in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2, that cause predisposition to various cancers, predominantly colorectal and endometrial cancer. Data are emerging that pathogenic variants in mismatch repair genes increase the risk of early-onset aggressive prostate cancer. The IMPACT study is prospectively assessing prostate-specific antigen (PSA) screening in men with germline mismatch repair pathogenic variants.View publication
Publication: Cancer Research
Ramona Woitek, Mary McLean , Stephan Ursprung, Oscar M Ruedae, Raquel Manzano Garcia, Matthew Locke, Lucian Beer, Gabrielle Baxter, Leonardo Rundo, Elena Provenzano , Joshua Kaggie , Andrew Patterson, Amy Frarya, Johanna Field-Raynera,b , Vasiliki Papalouka , Justine Kaneg, Arnold Benjamin, Andrew B Gill , Andrew Priest , David Lewis, Roslin Russell, Ashley Grimmera, , Brian Whitea , Beth Latimer-Bowmana, , Ilse Patterson, Amy Schiller , Bruno Carmo , Rhys Slough , Titus Lanzk , James Wason, Rolf Schultel, Suet-Feung Chine, Martin J Graves, Fiona J Gilbert, Jean E Abraham, Carlos Caldase, Kevin M Brindle , Evis Sala Ferdia A Gallagher
8 October 2021
Hyperpolarised carbon-13 MRI was used to detect response to neoadjuvant chemotherapy in patients with early breast cancer around one week after the start of treatment.View publication
Publication: European Urology
David Thurtle, Val Jenkins, Alex Freeman, Mike Pearson, Gabriel Recchia, Priya Tamer, Kelly Leonard, Paul Pharoah, Jonathan Aning, Sanjeev Madaanh, Chee Goh, Serena Hilman, Stuart McCracken, Petre Cristian, lie, Henry Lazarowicz, Vincent Gnanapragasam
4 September 2021
Predict Prostate is a Cambridge developed and validated risk communication tool for men with a new prostate cancer diagnosis. It is a CE marked web tool and endorsed by NICE. In this multicentre RCT national study, researchers assessed the impact of this individualised risk communication tool, on patient decision-making after a diagnosis of localised prostate cancer.
Men were randomly assigned to two groups, which received either standard counselling and information, or this in addition to a structured presentation of the Predict Prostate tool. Men who saw the tool were less conflicted and uncertain in their decision-making, and recommended the tool highly. Those who saw the tool had more realistic perception about their long-term survival and the potential impact of treatment upon this.View publication
Publication: BMJ Journal of Medical Genetics
Laurene Ben Aim, Eamonn R Maher, Alberto Cascon, Anne Barlier, Sophie Giraud, Tonino Ercolino, Pascal Pigny, Roderick J Clifton-Bligh, Delphine Mirebeau-Prunier, Amira Mohamed, Judith Favier, Anne-Paule Gimenez-Roqueplo, Francesca Schiavi, Rodrigo A Toledo, Patricia L Dahia, Mercedes Robledo, Jean Pierre Bayley Nelly Burnichon,
31 August 2021
A total of 223 distinct SDHB variants from 737 patients were collected worldwide. Using multiple criteria, each variant was first classified according to a 5-tier grouping based on American College of Medical Genetics and NGSnPPGL standardised recommendations and was then manually reviewed by a panel of experts in the field
Publication: Nature Cancer
Xueqing Zou, Gene Ching Chiek Koh, Arjun Scott Nanda, Andrea Degasperi, Katie Urgo, Theodoros I. Roumeliotis, Chukwuma A. Agu, Cherif Badja, Sophie Momen, Jamie Young, Tauanne Dias Amarante, Lucy Side, Glen Brice, Vanesa Perez-Alonso, Daniel Rueda, Celine Gomez, Wendy Bushell, Rebecca Harris, Jyoti S. Choudhary, Genomics England Research Consortium, Josef Jiricny, William C. Skarnes & Serena Nik-Zainal
26 April 2021
A new way to identify tumours that could be sensitive to particular immunotherapies has been developed using data from thousands of NHS cancer patient samples sequenced through the 100,000 Genomes Project. The MMRDetect clinical algorithm makes it possible to identify tumours that have ‘mismatch repair deficiencies’ and then improve the personalisation of cancer therapies to exploit those weaknesses.View publication
Contributing NIHR Cambridge BRC researchers: Andrew B Gill, Leonardo Rundo, Jonathan C. M. Wan, Doreen Lau, Jeries P. Zawaideh, Ramona Woitek, Fulvio Zaccagna, Lucian Beer, Davina Gale, Evis Sala, Dominique-Laurent Couturier, Pippa G. Corrie, Nitzan Rosenfeld and Ferdia A. Gallagher
24 November 2020
The analysis of circulating tumor DNA (ctDNA) concentrations in blood plasma and the radiomic analysis of tumor images (i.e., quantification of textural features on medical imaging) have both been used to provide information about cancer progression. The purpose of this study was to assess a link between these two different modalities in order to determine whether results from one can be used to predict outcomes from the other.
The results show that radiomics features can predict ctDNA levels in patients with metastatic melanoma even when controlling for other factors such as tumor volume.
This establishes the potential for new biomarkers of tumor progression that could combine the specificity of ctDNA assays with the high-resolution spatial information obtained by imaging. This could enable more accurate assessment of tumor response to treatment and provide clinicians with more timely indications of whether a particular therapeutic option is working or not.View publication
Sunjie Ye, Arsalan A. Azad, Joseph E. Chambers, Alison J. Beckett, Lucien Roach, Samuel C. T. Moorcroft, Zabeada Aslam, Ian A. Prior, Alexander F. Markham, P. Louise Coletta, Stefan J. Marciniak, Stephen D. Evans
25 October 2020
More than 2,600 people are diagnosed in the UK each year with mesothelioma, a malignant form of cancer caused by exposure to asbestos and can be hard to treat.
In a collaboration between the University of Cambridge and University of Leeds, researchers have developed a form of gold nanotubes whose physical properties are ‘tunable’ – in other words, the team can tailor the wall thickness, microstructure, composition, and ability to absorb particular wavelengths of light.
The researchers added the nanotubes to mesothelioma cells cultured in the lab and found that they were absorbed by the cells, residing close to the nucleus, where the cell’s DNA lies. When the team targeted the cells with a laser, the nanotubes absorbed the light and heated up, killing the mesothelioma cell.
Read the full press releaseView publication
Publication: Nature Medicine
Sarah Killcoyne, Eleanor Gregson, David C. Wedge, Dan J. Woodcock, Matthew D. Eldridge, Rachel de la Rue, Ahmad Miremadi, Sujath Abbas, Adrienn Blasko, Cassandra Kosmidou, Wladyslaw Januszewicz, Aikaterini Varanou Jenkins, Moritz Gerstung & Rebecca C. Fitzgerald
07 September 2020
Barrett’s oesophagus is a risk factor for oesophageal cancer. The oesophagus or known as the gullet or food pipe, connects from your mouth to the stomach. Cells within the oesophagus can change and become abnormal. Biopsies taken via an endoscopy can help detect any abnormal cells.
Oesophageal cancer can be hard to detect, Cambridge researchers investigated whether patients could be identified earlier. Using DNA tissue biopsies from patients diagnosed with Barrett’s oesophagus could show which patients are more likely to develop the disease.
Using whole genome sequencing, researchers analysed samples from 88 patients and compared their DNA against control samples collected during clinical surveillance for Barrett’s oesophagus. Researchers looked at the differences in the DNA between patients who were eventually diagnosed with cancer to those who were not. They found several changes and used this model to predict whether a patient was at a high or low risk of cancer.
They found the model could correctly predict oesophageal cancer eight years before diagnosis for half of all patients who went on to develop the disease. This increased to more than three-quarters of patients one to two years before a diagnosis. Read the full story.View publication
Publication: JCO Clinical Cancer Informatics
Mireia Crispin-Ortuzar, Marcel Gehrung, Stephan Ursprung, Andrew B. Gill, Anne Y. Warren, Lucian Beer, Ferdia A. Gallagher, Thomas J. Mitchell, Iosif A. Mendichovszky, Andrew N. Priest, Grant D. Stewart, Evis Sala, Florian Markowetz
Cancer is a highly heterogeneous disease. Different parts of a single tumour often look different in medical images; they sometimes even carry different genetic information. This complexity may be key to understanding why some tumours respond better to therapy than others. Once the tumour has been removed through surgery, researchers can obtain tissue samples that allow them to study its spatial composition. However, matching these data to the images that were obtained before surgery is challenging.
The research team developed a computational methodology that relies on 3D printing to automatically design and create tumour moulds that help to match images and tissue accurately without disrupting clinical practice.
Their work provides a robust and automated interface between imaging and tissue, enabling the development of clinical studies to probe tumor heterogeneity on multiple spatial scales. Understanding this heterogeneity may be key to understand why some tumours respond better to therapy than others.View publication
Publication: The Lancet
Prof Rebecca C Fitzgerald, Massimiliano di Pietro, Maria O’Donovan, Roberta Maroni, Beth Muldrew, Irene Debiram-Beecham, Marcel Gehrung, Judith Offman, Monika Tripathi, Samuel G Smith, Benoit Aigret, Fiona M Walter, Prof Greg Rubin, on behalf of theBEST3 Trial team † Prof Peter Sasieni
31 July 2020
Barrett’s oesophagus is a condition that can lead to oesophageal cancer in a small number of people. It’s usually diagnosed in hospital by endoscopy (passing a camera down into the stomach). Samples of cells from any areas that don’t look normal are then collected, but an endoscopy can be uncomfortable and does have some risks.
The Cytosponge test allows the patient to swallow a small capsule with a sponge inside, which is attached to a piece of string. The capsule dissolves after a few minutes, and the sponge inside is released. A nurse then gently pulls the string to remove the sponge. On the way out the sponge collects cells from the lining of the oesophagus. The sample is then taken for analysis using a new laboratory marker called TFF3.
Researchers studied 13,222 participants who were randomly allocated to being offered the sponge test or being looked after by the GP in the usual way. Over the course of a year, the odds of detecting Barrett’s were ten times higher in those who were offered the Cytosponge with 140 cases diagnosed compared to 13 in usual care. In addition, the Cytosponge diagnosed five cases of early cancer (stage 1 and 2), whereas only one case of early cancer was detected in the usual care group.
Alongside better detection, the test means cancer patients can benefit from kinder treatment options if their cancer is caught at a much earlier stage. Read the full news article.
Publication: Journal of Clinical Urology
Vincent J Gnanapragasam, Kelly Leonard, Michal Sut, Cristian Ilie, Jonathan Ord, Jacques Roux, Maria Consuelo Hart Prieto, Anne Warren, Priya Tamer
Prostate cancer is the commonest male cancer and more than one million rectal biopsies for suspected prostate cancer are carried out each year. However, a significant number of men undergoing rectal biopsies develop infection and sepsis.
This study showed that the CamPROBE, a device developed by Cambridge researchers that can be used under local anaesthetic, is just as good at diagnosing prostate cancer as rectal biopsies – with less infection risk.
Led by Cambridge University Hospitals (CUH), the study recruited 40 patients across six sites. CUH developed a user training course and disseminated the method to the other sites, which then offered the Cambridge Prostate Biopsy Device (CamPROBE), as an alternative to transrectal ultrasound guided biopsy to men due for a biopsy as part of their clinical management.
There were no infections, device deficiencies or safety issues reported, and the CamPROBE appears non-inferior in terms of cancer detection rates. The study also showed that the procedure is well tolerated by patients, suited to the local anaesthetic outpatient setting and can be readily disseminated and adopted.
Future clinical investigation trials will aim at confirming the veracity of the findings, develop head-to-head comparisons with other biopsy methods and explore comparative health economic and cost benefit analysis.View publication
Luiza Moore, Daniel Leongamornlert, Tim H. H. Coorens, Mathijs A. Sanders, Peter Ellis, Stefan Dentro, Kevin Dawson, Tim Butler, Raheleh Rahbari, Thomas J Mitchell, Francesco Maura, Jyoti Nangalia, Patrick S. Tarpey, Simon F. Brunner, Henry Lee-Six, Yvette Hooks, Sarah Moody, Krishnaa Mahbubani, Mercedes Jimenez-Linan, Jan J. Brosens, Christine A. Iacobuzio-Donahue, Inigo Martincorena, Kourosh Saeb-Parsy, Peter J. Campbell, Michael R. Stratton
22 April 2020
This paper looks at somatic mutation (changes in the DNA) in healthy human tissue in the endometrium (womb lining) and provides insights into the earliest stages of uterine cancer development, which is the fourth most common cancer in women in the UK.
Many cells in the inner lining of the uterus carry ‘cancer-driving’ mutations that frequently arise early in life. Using whole-genome sequencing to better understand the genetic changes in healthy endometrial tissue, the researchers found that a high proportion of cells carry driver mutations, even though they appear completely normal under the microscope. Furthermore the team found that many of these driver mutations appear to have arisen early in life, in many cases during childhood.View publication
Publication: BMC Medicine
Lois Kim, Nicholas Boxall, Anne George, Keith Burling, Pete Acher, Jonathan Aning, Stuart McCracken, Toby Page and Vincent J. Gnanapragasam
17 April 2020
At the moment if a man is referred for suspected prostate cancer he has to undergo an MRI scan and perhaps a prostate biopsy to find out if he has the disease. This costs a lot of money and means many hospital visits and potentially dangerous side effects (bleeding or infections from the biopsy). In this study researchers wanted to test if using a new biomarker blood test called PHI (Prostate Health Index) could reduce the number of unnecessary investigations for suspected prostate cancer. To do this they measured the PHI levels in over 500 men from 5 hospitals and tested how effective it was at selecting men for further investigations.
They found that if the PHI test was used to decide who should go onto have MRI and biopsies, doctors would reduce the number of scans needed by 25% and the number of biopsies needed by 40%, but still find the same number of prostate cancers. Moreover, using this test and pathway would save the NHS a lot of money as it is much cheaper than the current pathway.
Hospital visits and appointments could also be drastically reduced, which is particularly important in these days of shielding and social distancing to help with the COVID crisis.View publication
Tim H. H. Coorens, Taryn D. Treger, Reem Al-Saadi, Luiza Moore, Maxine G. B., Thomas J. Mitchell, Suzanne Tugnait, Christine Thevanesan, Matthew D. Young, Thomas R. W. Oliver, Minou Oostveen, Grace Collord, Patrick S. Tarpey, Alex Cagan, Yvette Hooks, Mark Brougham, Ben C. Reynolds, Giuseppe Barone, John Anderson, Mette Jorgensen, G. A. Amos Burke, Johannes Visser, James C. Nicholson, Naima Smeulders, Imran Mushtaq, Grant D. Stewart, Peter J. Campbell, David C. Wedge, Iñigo Martincorena, Dyanne Rampling, Liz Hook, Anne Y. Warren, Nicholas Coleman, Tanzina Chowdhury, Neil Sebire, Jarno Drost, Kourosh Saeb-Parsy, Michael R. Stratton, Karin Straathof, Kathy Pritchard-Jones, Sam Behjati
6 December 2019
Wilms tumour is the most common type of kidney cancer in childhood but it was not previously known how it arose in children’s kidneys. This research found out that both pediatric and adult kidney cancer arise in a similar way, from premalignant clonal expansions.View publication
Henry Lee-Six, Sigurgeir Olafsson, Peter Ellis, Robert J. Osborne, Mathijs A. Sanders, Luiza Moore, Nikitas Georgakopoulos, Franco Torrente, Ayesha Noorani, Martin Goddard, Philip Robinson, Tim H. H. Coorens, Laura O’Neill, Christopher Alder, Jingwei Wang, Rebecca C. Fitzgerald, Matthias Zilbauer, Nicholas Coleman, Kourosh Saeb-Parsy, Inigo Martincorena, Peter J. Campbell & Michael R. Stratton
23 October 2019
This was a study of early changes in human colorectal tissue that could lead to adenomas/carconomas. These are rare outcomes even after a substantially increased mutational burden has been placed on the tissue, but it is important to study the earliest stages of colorectal carcinogenesis.View publication
Rueda OM, Sammut SJ, Seoane JA, Chin SF, Caswell-Jin JL, Callari M, et al.
13 March 2019View publication
Publication: EMBO Molecular Medicine
Damgaard RB, Elliott PR, Swatek KN, Maher ER, Stepensky P, Elpeleg O, et al.
25 February 2019View publication
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, et al. Lancet.
23 February 2019View publication
Publication: British Journal of Cancer
Escala-Garcia M, Guo Q, Dork T, Canisius S, Keeman R, Dennis J, et al.
21 February 2019View publication
Publication: New England Journal
von Minckwitz G, Huang CS, Mano MS, Loibl S, Mamounas EP, Untch M, et al.
14 February 2019View publication
Publication: Nature Communications
Caswell-Jin JL, McNamara K, Reiter JG, Sun R, Hu Z, Ma Z, et al.
8 February 2019View publication
Publication: Nat Genetics
Frankell AM, Jammula S, Li X, Contino G, Killcoyne S, Abbas S, et al.
4 February 2019View publication
Publication: Nature Communications
Jiang X, Finucane HK, Schumacher FR, Schmit SL, Tyrer JP, Han Y, et al.
25 January 2019View publication
Publication: Genetics in Medicine
Lee A, Mavaddat N, Wilcox AN, Cunningham AP, Carver T, Hartley S, Babb de Villiers C, Izquierdo A, Simard J, Schmidt MK, Walter FM, Chatterjee N, Garcia-Closas M, Tischkowitz M, Pharoah P, Easton DF, Antoniou AC.
15 January 2019View publication
Publication: Journal of Clinical Oncology
Bhattacharya IS, Haviland JS, Kirby AM, Kirwan CC, Hopwood P, Yarnold JR, et al.
11 December 2018View publication
Publication: European Journal of Radiology
Barrett T, Lawrence EM, Priest AN, Warren AY, Gnanapragasam VJ, Gallagher FA, et al.
17 November 2018View publication
Publication: New England Journal
Grinfeld J, Nangalia J, Baxter EJ, Wedge DC, Angelopoulos N, Cantrill R, Godfrey AL, Papaemmanuil E, Gundem G, MacLean C, Cook J, O’Neil L, O’Meara S, Teague JW, Butler AP, Massie CE, Williams N, Nice FL, Andersen CL, Hasselbalch HC, Guglielmelli P, McMullin MF, Vannucchi AM, Harrison CN, Gerstung M, Green AR, Campbell PJ.
11 October 2018View publication
Lee-Six H, Øbro NF, Shepherd MS, Grossmann S, Dawson K, Belmonte M, Osborne RJ, Huntly BJP, Martincorena I, Anderson E, O’Neill L, Stratton MR, Laurenti E, Green AR, Kent DG, Campbell PJ.
5 September 2018View publication
Publication: The Lancet Infectious Diseases
Fisher H, Oluboyede Y, Chadwick T, Abdel-Fattah M, Brennand C, Fader M, Harrison S, Hilton P, Larcombe J, Little P, McClurg D, McColl E, N’Dow J, Ternent L, Thiruchelvam N, Timoney A, Vale L, Walton K, von Wilamowitz-Moellendorff A, Wilkinson J, Wood R, Pickard R.
1 September 2018View publication
Publication: Nature Genetics
Geoff Macintyre, Teodora E. Goranova, Dilrini De Silva, Darren Ennis, Anna M. Piskorz, Matthew Eldridge, Daoud Sie, Liz-Anne Lewsley, Aishah Hanif, Cheryl Wilson, Suzanne Dowson, Rosalind M. Glasspool, Michelle Lockley, Elly Brockbank, Ana Montes, Axel Walther, Sudha Sundar, Richard Edmondson, Geoff D. Hall, Andrew Clamp, Charlie Gourley, Marcia Hall, Christina Fotopoulou, Hani Gabra, James Paul, Anna Supernat, David Millan, Aoisha Hoyle, Gareth Bryson, Craig Nourse, Laura Mincarelli, Luis Navarro Sanchez, Bauke Ylstra, Mercedes Jimenez-Linan, Luiza Moore, Oliver Hofmann, Florian Markowetz, Iain A. McNeish and James D. Brenton
13 August 2018
Researchers have found distinct patterns of DNA rearrangement that are linked to patient outcomes.
In this study of ovarian cancer samples from over 500 women, the research team harnessed big data processing techniques to look for broad patterns in the genetic readouts from ovarian cancer cells.
Rather than focusing on the detail of each individual mistake in the DNA, they designed powerful computer algorithms to scan the genetic data, finding seven distinct patterns.
They showed that each pattern, or “signature”, represented a different mechanism of DNA mutation. Taken together, these signatures were able to make sense of the chaos seen in ovarian cancer genomes. Read the full story hereView publication
Publication: Nature Communications
Li X, Francies HE, Secrier M, Perner J, Miremadi A, Galeano-Dalmau N, Barendt WJ, Letchford L, Leyden GM, Goffin EK, Barthorpe A, Lightfoot H, Chen E, Gilbert J, Noorani A, Devonshire G, Bower L, Grantham A, MacRae S, Grehan N, Wedge DC, Fitzgerald RC, Garnett MJ.
30 July 2018View publication
Publication: Nature Genetics
Schumacher FR, Al Olama AA, Berndt SI, Benlloch S, Ahmed M, Saunders EJ, Dadaev T, Leongamornlert D, Anokian E, Cieza-Borrella C, Goh C, Brook MN, Sheng X, Fachal L, Dennis J, Tyrer J, Muir K, Lophatananon A, Stevens VL, Gapstur SM, Carter BD, Tangen CM, Goodman PJ, Thompson IM Jr, Batra J, Chambers S, Moya L, Clements J, Horvath L, Tilley W, Risbridger GP, Gronberg H, Aly M, Nordström T, Pharoah P, Pashayan N, Schleutker J, Tammela TLJ, Sipeky C, Auvinen A, Albanes D, Weinstein S, Wolk A, Håkansson N, West CML, Dunning AM, Burnet N, Mucci LA, Giovannucci E, Andriole GL, Cussenot O, Cancel-Tassin G, Koutros S, Beane Freeman LE, Sorensen KD, Orntoft TF, Borre M, Maehle L, Grindedal EM, Neal DE, Donovan JL, Hamdy FC, Martin RM, Travis RC, Key TJ, Hamilton RJ, Fleshner NE, Finelli A, Ingles SA, Stern MC, Rosenstein BS, Kerns SL, Ostrer H, Lu YJ, Zhang HW, Feng N, Mao X, Guo X, Wang G, Sun Z, Giles GG, Southey MC, MacInnis RJ, FitzGerald LM, Kibel AS, Drake BF, Vega A, Gómez-Caamaño A, Szulkin R, Eklund M, Kogevinas M, Llorca J, Castaño-Vinyals G, Penney KL, Stampfer M, Park JY, Sellers TA, Lin HY, Stanford JL, Cybulski C, Wokolorczyk D, Lubinski J, Ostrander EA, Geybels MS, Nordestgaard BG, Nielsen SF, Weischer M, Bisbjerg R, Røder MA, Iversen P, Brenner H, Cuk K, Holleczek B, Maier C, Luedeke M, Schnoeller T, Kim J, Logothetis CJ, John EM, Teixeira MR, Paulo P, Cardoso M, Neuhausen SL, Steele L, Ding YC, De Ruyck K, De Meerleer G, Ost P, Razack A, Lim J, Teo SH, Lin DW, Newcomb LF, Lessel D, Gamulin M, Kulis T, Kaneva R, Usmani N, Singhal S, Slavov C, Mitev V, Parliament M, Claessens F, Joniau S, Van den Broeck T, Larkin S, Townsend PA, Aukim-Hastie C, Dominguez MG, Castelao JE, Martinez ME, Roobol MJ, Jenster G, van Schaik RHN, Menegaux F, Truong T, Koudou YA; Profile Study, Xu J, Khaw KT, Cannon-Albright L, Pandha H, Michael A, Thibodeau SN, McDonnell SK, Schaid DJ, Lindstrom S, Turman C, Ma J, Hunter DJ, Riboli E, Siddiq A, Canzian F, Kolonel LN, Le Marchand L, Hoover RN, Machiela MJ, Cui Z, Kraft P; Australian Prostate Cancer BioResource (APCB); IMPACT Study; Canary PASS Investigators; Breast and Prostate Cancer Cohort Consortium (BPC3); PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium; Cancer of the Prostate in Sweden (CAPS); Prostate Cancer Genome-wide Association Study of Uncommon Susceptibility Loci (PEGASUS); Genetic Associations and Mechanisms in Oncology (GAME-ON)/Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE) Consortium, Amos CI, Conti DV, Easton DF, Wiklund F, Chanock SJ, Henderson BE, Kote-Jarai Z, Haiman CA, Eeles RA.
11 June 2018View publication
Publication: Nature Communications
Dadaev T, Saunders EJ, Newcombe PJ, Anokian E, Leongamornlert DA, Brook MN, Cieza-Borrella C, Mijuskovic M, Wakerell S, Olama AAA, Schumacher FR, Berndt SI, Benlloch S, Ahmed M, Goh C, Sheng X, Zhang Z, Muir K, Govindasami K, Lophatananon A, Stevens VL, Gapstur SM, Carter BD, Tangen CM, Goodman P, Thompson IM Jr, Batra J, Chambers S, Moya L, Clements J, Horvath L, Tilley W, Risbridger G, Gronberg H, Aly M, Nordström T, Pharoah P, Pashayan N, Schleutker J, Tammela TLJ, Sipeky C, Auvinen A, Albanes D, Weinstein S, Wolk A, Hakansson N, West C, Dunning AM, Burnet N, Mucci L, Giovannucci E, Andriole G, Cussenot O, Cancel-Tassin G, Koutros S, Freeman LEB, Sorensen KD, Orntoft TF, Borre M, Maehle L, Grindedal EM, Neal DE, Donovan JL, Hamdy FC, Martin RM, Travis RC, Key TJ, Hamilton RJ, Fleshner NE, Finelli A, Ingles SA, Stern MC, Rosenstein B, Kerns S, Ostrer H, Lu YJ, Zhang HW, Feng N, Mao X, Guo X, Wang G, Sun Z, Giles GG, Southey MC, MacInnis RJ, FitzGerald LM, Kibel AS, Drake BF, Vega A, Gómez-Caamaño A, Fachal L, Szulkin R, Eklund M, Kogevinas M, Llorca J, Castaño-Vinyals G, Penney KL, Stampfer M, Park JY, Sellers TA, Lin HY, Stanford JL, Cybulski C, Wokolorczyk D, Lubinski J, Ostrander EA, Geybels MS, Nordestgaard BG, Nielsen SF, Weisher M, Bisbjerg R, Røder MA, Iversen P, Brenner H, Cuk K, Holleczek B, Maier C, Luedeke M, Schnoeller T, Kim J, Logothetis CJ, John EM, Teixeira MR, Paulo P, Cardoso M, Neuhausen SL, Steele L, Ding YC, De Ruyck K, De Meerleer G, Ost P, Razack A, Lim J, Teo SH, Lin DW, Newcomb LF, Lessel D, Gamulin M, Kulis T, Kaneva R, Usmani N, Slavov C, Mitev V, Parliament M, Singhal S, Claessens F, Joniau S, Van den Broeck T, Larkin S, Townsend PA, Aukim-Hastie C, Gago-Dominguez M, Castelao JE, Martinez ME, Roobol MJ, Jenster G, van Schaik RHN, Menegaux F, Truong T, Koudou YA, Xu J, Khaw KT, Cannon-Albright L, Pandha H, Michael A, Kierzek A, Thibodeau SN, McDonnell SK, Schaid DJ, Lindstrom S, Turman C, Ma J, Hunter DJ, Riboli E, Siddiq A, Canzian F, Kolonel LN, Le Marchand L, Hoover RN, Machiela MJ, Kraft P; PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium, Freedman M, Wiklund F, Chanock S, Henderson BE, Easton DF, Haiman CA, Eeles RA, Conti DV, Kote-Jarai Z. F
11 June 2018View publication
Publication: Nature Genetics
Gozdecka M, Meduri E, Mazan M, Tzelepis K, Dudek M, Knights AJ, Pardo M, Yu L, Choudhary JS, Metzakopian E, Iyer V, Yun H, Park N, Varela I, Bautista R, Collord G, Dovey O, Garyfallos DA, De Braekeleer E, Kondo S, Cooper J, Göttgens B, Bullinger L, Northcott PA, Adams D, Vassiliou GS, Huntly BJP.
7 May 2018View publication
Publication: PLoS Medicine
Parkinson CA, Gale D, Piskorz AM, Biggs H, Hodgkin C, Addley H, Freeman S, Moyle P, Sala E, Sayal K, Hosking K, Gounaris I, Jimenez-Linan M, Earl HM, Qian W, Rosenfeld N, Brenton JD
20 December 2016View publication
Publication: The Lancet Oncology
Rini BI, Stenzl A, Zdrojowy R, Kogan M, Shkolnik M, Oudard S, Weikert S, Bracarda S, Crabb SJ, Bedke J, Ludwig J, Maurer D, Mendrzyk R, Wagner C, Mahr A, Fritsche J, Weinschenk T, Walter S, Kirner A, Singh-Jasuja H, Reinhardt C, Eisen T
3 October 2016View publication
Bruna A, Rueda OM, Greenwood W, Batra AS, Callari M, Batra RN, Pogrebniak K, Sandoval J, Cassidy JW, Tufegdzic-Vidakovic A, Sammut SJ, Jones L, Provenzano E, Baird R, Eirew P, Hadfield J, Eldridge M, McLaren-Douglas A, Barthorpe A, Lightfoot H, O’Connor MJ, Gray J, Cortes J, Baselga J, Marangoni E, Welm AL, Aparicio S, Serra V, Garnett MJ, Caldas C
15 September 2016View publication
Publication: Nature genetics
Secrier M, Li X, de Silva N, Eldridge MD, Contino G, Bornschein J, MacRae S, Grehan N, O’Donovan M, Miremadi A, Yang TP, Bower L, Chettouh H, Crawte J, Galeano-Dalmau N, Grabowska A, Saunders J, Underwood T, Waddell N, Barbour AP, Nutzinger B, Achilleos A, Edwards PA, Lynch AG, Tavare S, Fitzgerald RC
5 September 2016View publication
Sciacovelli M, Goncalves E, Johnson TI, Zecchini VR, da Costa AS, Gaude E, Drubbel AV, Theobald SJ, Abbo SR, Tran MG, Rajeeve V, Cardaci S, Foster S, Yun H, Cutillas P, Warren A, Gnanapragasam V, Gottlieb E, Franze K, Huntly B, Maher ER, Maxwell PH, Saez-Rodriguez J, Frezza C
31 August 2016View publication
Publication: The Lancet Oncology
Gharahkhani P, Fitzgerald RC, Vaughan TL, Palles C, Gockel I, Tomlinson I, Buas MF, May A, Gerges C, Anders M, Becker J, Kreuser N, Noder T, Venerito M, Veits L, Schmidt T, Manner H, Schmidt C, Hess T, Bohmer AC, Izbicki JR, Holscher AH, Lang H, Lorenz D, Schumacher B, Hackelsberger A, Mayershofer R, Pech O, Vashist Y, Ott K, Vieth M, Weismuller J, Nothen MM, Attwood S, Barr H, Chegwidden L, de Caestecker J, Harrison R, Love SB, MacDonald D, Moayyedi P, Prenen H, Watson RG, Iyer PG, Anderson LA, Bernstein L, Chow WH, Hardie LJ, Lagergren J, Liu G, Risch HA, Wu AH, Ye W, Bird NC, Shaheen NJ, Gammon MD, Corley DA, Caldas C, Moebus S, Knapp M, Peters WH, Neuhaus H, Rosch T, Ell C, MacGregor S, Pharoah P, Whiteman DC, Jankowski J, Schumacher J
12 August 2016View publication
Publication: Nature medicine
Siu LL, Lawler M, Haussler D, Knoppers BM, Lewin J, Vis DJ, Liao RG, Andre F, Banks I, Barrett JC, Caldas C, Camargo AA, Fitzgerald RC, Mao M, Mattison JE, Pao W, Sellers WR, Sullivan P, Teh BT, Ward RL, ZenKlusen JC, Sawyers CL, Voest EE
5 May 2016View publication
Nik-Zainal S, Davies H, Staaf J, Ramakrishna M, Glodzik D, Zou X, Martincorena I, Alexandrov LB, Martin S, Wedge DC, Van Loo P, Ju YS, Smid M, Brinkman AB, Morganella S, Aure MR, Lingj√¶rde OC, Langer√∏d A, Ringn√©r M, Ahn SM, Boyault S, Brock JE, Broeks A, Butler A, Desmedt C, Dirix L, Dronov S, Fatima A, Foekens JA, Gerstung M, Hooijer GK, Jang SJ, Jones DR, Kim HY, King TA, Krishnamurthy S, Lee HJ, Lee JY, Li Y, McLaren S, Menzies A, Mustonen V, O’Meara S, Pauport√© I, Pivot X, Purdie CA, Raine K, Ramakrishnan K, Rodr√≠guez-Gonz√°lez FG, Romieu G, Sieuwerts AM, Simpson PT, Shepherd R, Stebbings L, Stefansson OA, Teague J, Tommasi S, Treilleux I, Van den Eynden GG, Vermeulen P, Vincent-Salomon A, Yates L, Caldas C, van’t Veer L, Tutt A, Knappskog S, Tan BK, Jonkers J, Borg √Ö, Ueno NT, Sotiriou C, Viari A, Futreal PA, Campbell PJ, Span PN, Van Laere S, Lakhani SR, Eyfjord JE, Thompson AM, Birney E, Stunnenberg HG, van de Vijver MJ, Martens JW, B√∏rresen-Dale AL, Richardson AL, Kong G, Thomas G, Stratton MR.
2 May 2016View publication
Publication: Science (New York, NY)
Galloway A, Saveliev A, Lukasiak S, Hodson DJ, Bolland D, Balmanno K, Ahlfors H, Monzon-Casanova E, Mannurita SC, Bell LS, Andrews S, Diaz-Munoz MD, Cook SJ, Corcoran A, Turner M
22 April 2016View publication
Publication: The Lancet Oncology
Armstrong AJ, Halabi S, Eisen T, Broderick S, Stadler WM, Jones RJ, Garcia JA, Vaishampayan UN, Picus J, Hawkins RE, Hainsworth JD, Kollmannsberger CK, Logan TF, Puzanov I, Pickering LM, Ryan CW, Protheroe A, Lusk CM, Oberg S, George DJ
13 January 2016View publication