Representative Sequencing: Unbiased Sampling of Solid Tumor Tissue

Autor: Kevin Litchfield, Stacey Stanislaw, Lavinia Spain, Lisa L. Gallegos, Andrew Rowan, Desiree Schnidrig, Heidi Rosenbaum, Alexandre Harle, Lewis Au, Samantha M. Hill, Zayd Tippu, Jennifer Thomas, Lisa Thompson, Hang Xu, Stuart Horswell, Aoune Barhoumi, Carol Jones, Katherine F. Leith, Daniel L. Burgess, Thomas B.K. Watkins, Emilia Lim, Nicolai J. Birkbak, Philippe Lamy, Iver Nordentoft, Lars Dyrskjøt, Lisa Pickering, Stephen Hazell, Mariam Jamal-Hanjani, James Larkin, Charles Swanton, Nelson R. Alexander, Samra Turajlic, Chris Abbosh, Kai-Keen Shiu, John Bridgewater, Daniel Hochhauser, Martin Forster, Siow-Ming Lee, Tanya Ahmad, Dionysis Papadatos-Pastos, Sam Janes, Peter Van Loo, Katey Enfield, Nicholas McGranahan, Ariana Huebner, Sergio Quezada, Stephan Beck, Peter Parker, Henning Walczak, Tariq Enver, Rob Hynds, Mary Falzon, Ian Proctor, Ron Sinclair, Chi-wah Lok, Zoe Rhodes, David Moore, Teresa Marafioti, Elaine Borg, Miriam Mitchison, Reena Khiroya, Giorgia Trevisan, Peter Ellery, Mark Linch, Sebastian Brandner, Crispin Hiley, Selvaraju Veeriah, Maryam Razaq, Heather Shaw, Gert Attard, Mita Afroza Akther, Cristina Naceur-Lombardelli, Lizi Manzano, Maise Al-Bakir, Simranpreet Summan, Nnenna Kanu, Sophie Ward, Uzma Asghar, Faye Gishen, Adrian Tookman, Paddy Stone, Caroline Stirling, Andrew Furness, Kim Edmonds, Nikki Hunter, Sarah Sarker, Sarah Vaughan, Mary Mangwende, Karla Pearce, Scott Shepherd, Haixi Yan, Ben Shum, Eleanor Carlyle, Steve Hazell, Annika Fendler, Fiona Byrne, Nadia Yousaf, Sanjay Popat, Olivia Curtis, Gordon Stamp, Antonia Toncheva, Emma Nye, Aida Murra, Justine Korteweg, Nahid Sheikh, Debra Josephs, Ashish Chandra, James Spicer, Ula Mahadeva, Anna Green, Ruby Stewart, Lara-Rose Iredale, Tina Mackay, Ben Deakin, Debra Enting, Sarah Rudman, Sharmistha Ghosh, Lena Karapagniotou, Elias Pintus, Andrew Tutt, Sarah Howlett, Vasiliki Michalarea, James Brenton, Carlos Caldas, Rebecca Fitzgerald, Merche Jimenez-Linan, Elena Provenzano, Alison Cluroe, Grant Stewart, Colin Watts, Richard Gilbertson, Ultan McDermott, Simon Tavare, Emma Beddowes, Patricia Roxburgh, Andrew Biankin, Anthony Chalmers, Sioban Fraser, Karin Oien, Andrew Kidd, Kevin Blyth, Matt Krebs, Fiona Blackhall, Yvonne Summers, Caroline Dive, Richard Marais, Fabio Gomes, Mat Carter, Jo Dransfield, John Le Quesne, Dean Fennell, Jacqui Shaw, Babu Naidu, Shobhit Baijal, Bruce Tanchel, Gerald Langman, Andrew Robinson, Martin Collard, Peter Cockcroft, Charlotte Ferris, Hollie Bancroft, Amy Kerr, Gary Middleton, Joanne Webb, Salma Kadiri, Peter Colloby, Bernard Olisemeke, Rodelaine Wilson, Ian Tomlinson, Sanjay Jogai, Christian Ottensmeier, David Harrison, Massimo Loda, Adrienne Flanagan, Mairead McKenzie, Allan Hackshaw, Jonathan Ledermann, Abby Sharp, Laura Farrelly, Hayley Bridger

Publikováno v: Cell Reports, Vol 31, Iss 5, Pp - (2020)

Summary: Although thousands of solid tumors have been sequenced to date, a fundamental under-sampling bias is inherent in current methodologies. This is caused by a tissue sample input of fixed dimensions (e.g., 6 mm biopsy), which becomes grossly un

Externí odkaz: https://doaj.org/article/5542750c54464de39c1b869ec12a56ce

A deep learning solution for detection of homologous recombination deficiency in ovarian cancer using low pass whole-genome sequencing: Evaluation of the analytical performance

Autor: Adrien Buisson, Pierre Saintigny, Eric Pujade-Lauraine, Christine Montoto-Grillot, Davide Vacirca, Massimo Barberis, Nicoletta Colombo, Alexandre Harle, Pauline Gilson, Cristin Roma, Francesca Bergantino, Philipp Harter, Sandro Pignata, Antonio Gonzalez Martin, Christian Schauer, Keiichi Fujiwara, Ignace Vergote, Trine Jakobi Nøttrup, Pierre-Alexandre Just, Isabelle Laure Ray-Coquard

Publikováno v: Journal of Clinical Oncology. 40:e17599-e17599

e17599 Background: Poly (ADP-ribose) polymerase inhibitors (PARPi) induce synthetic lethality in cells with homologous recombination deficiency (HRD). PARPi treatment revolutionized management of patients with cancer, particularly in types where HRD

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::120e076519cbf1ba40fd1ae68a4c088b
https://doi.org/10.1200/jco.2022.40.16_suppl.e17599

Validation of the Idylla GeneFusion assay to detect fusions and MET exon-skipping in non-small cell lung cancers

Autor: Pauline Gilson, Celso Pouget, Richard Belmonte, Smahane Fadil, Jessica Demange, Marie Rouyer, Julien Lacour, Margaux Betz, Julie Dardare, Andréa Witz, Jean-Louis Merlin, Alexandre Harlé

Publikováno v: Scientific Reports, Vol 13, Iss 1, Pp 1-12 (2023)

Abstract Gene fusions and MET exon skipping drive oncogenesis in 8–9% and 3% of non-small cell lung cancers (NSCLC) respectively. Their detection are essential for the management of patients since they confer sensitivity to specific targeted therap

Externí odkaz: https://doaj.org/article/20406c264bfb4ec3b46fea9ad92a6877

Integrated Molecular Characterization of HER2-Low Breast Cancer Using Next Generation Sequencing (NGS)

Autor: Jean-Louis Merlin, Marie Husson, Nassim Sahki, Pauline Gilson, Vincent Massard, Alexandre Harlé, Agnès Leroux

Publikováno v: Biomedicines, Vol 11, Iss 12, p 3164 (2023)

Based on immunohistochemistry (IHC) and in situ hybridization (ISH), HER2-low breast cancers (BC) subtype—defined as IHC1+ or IHC2+/ISH− tumors—emerged and represent more than half of all BC. We evaluated the performance of NGS for integrated m

Externí odkaz: https://doaj.org/article/859b1a757f9b4feeb2983e4b254eb6c8

Evaluation of the Idylla ctEGFR mutation assay to detect EGFR mutations in plasma from patients with non-small cell lung cancers

Autor: Pauline Gilson, Chloé Saurel, Julia Salleron, Marie Husson, Jessica Demange, Jean-Louis Merlin, Alexandre Harlé

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)

Abstract The assessment of EGFR mutations is recommended for the management of patients with non-small cell lung cancer (NSCLC). Presence of EGFR mutation is associated with response or resistance to EGFR tyrosine kinase inhibitors (EGFR-TKI). Liquid

Externí odkaz: https://doaj.org/article/fc3985c683904c09b7333785819ae903