Zobrazeno 1 - 10
of 168
pro vyhledávání: '"Andrew J, Wallace"'
Autor:
Robert D. Morgan, Andrew R. Clamp, Daniel J. White, Marcus Price, George J. Burghel, W. David J. Ryder, Reem D. Mahmood, Alexander D. Murphy, Jurjees Hasan, Claire L. Mitchell, Zena Salih, Chelsey Wheeler, Emma Buckley, Joanna Truelove, Georgia King, Yasmina Ainaoui, Sanjeev S. Bhaskar, Joseph Shaw, D. Gareth R. Evans, Bedirhan Kilerci, Simon P. Pearce, Gerard Brady, Caroline Dive, James P.B. O'Connor, Andrew J. Wallace, Dominic G. Rothwell, Richard J. Edmondson, Gordon C. Jayson
Publikováno v:
Clinical Cancer Research. :OF1-OF10
Purpose: A single maintenance course of a PARP inhibitor (PARPi) improves progression-free survival (PFS) in germline BRCA1/2-mutant high-grade serous ovarian cancer (gBRCAm-HGSOC). The feasibility of a second maintenance course of PARPi was unknown.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e0ce146e67df3eacbdf34201db33125b
https://doi.org/10.1158/1078-0432.ccr-22-3282
https://doi.org/10.1158/1078-0432.ccr-22-3282
Autor:
Neil A J Ryan, Raymond McMahon, Simon Tobi, Tristan Snowsill, Shona Esquibel, Andrew J Wallace, Sancha Bunstone, Naomi Bowers, Ioana E Mosneag, Sarah J Kitson, Helena O'Flynn, Neal C Ramchander, Vanitha N Sivalingam, Ian M Frayling, James Bolton, Rhona J McVey, D Gareth Evans, Emma J Crosbie
Publikováno v:
PLoS Medicine, Vol 17, Iss 9, p e1003263 (2020)
BackgroundLynch syndrome (LS) predisposes to endometrial cancer (EC), colorectal cancer, and other cancers through inherited pathogenic variants affecting mismatch-repair (MMR) genes. Diagnosing LS in women with EC can reduce subsequent cancer mortal
Externí odkaz:
https://doaj.org/article/eceb739d88234f0eb12072b08be0941f
Autor:
Gordon C. Jayson, Richard J. Edmondson, Dominic G. Rothwell, Andrew J. Wallace, James P.B. O'Connor, Caroline Dive, Gerard Brady, Simon P. Pearce, Bedirhan Kilerci, D. Gareth R. Evans, Joseph Shaw, Sanjeev S. Bhaskar, Yasmina Ainaoui, Georgia King, Joanna Truelove, Emma Buckley, Chelsey Wheeler, Zena Salih, Claire L. Mitchell, Jurjees Hasan, Alexander D. Murphy, Reem D. Mahmood, W. David J. Ryder, George J. Burghel, Marcus Price, Daniel J. White, Andrew R. Clamp, Robert D. Morgan
BRCA2 reversion mutation detected in cell-free circulating DNA from patient 16.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d8190683682e17f23bf7a91a183e796
https://doi.org/10.1158/1078-0432.22490383.v1
https://doi.org/10.1158/1078-0432.22490383.v1
Autor:
Gordon C. Jayson, Richard J. Edmondson, Dominic G. Rothwell, Andrew J. Wallace, James P.B. O'Connor, Caroline Dive, Gerard Brady, Simon P. Pearce, Bedirhan Kilerci, D. Gareth R. Evans, Joseph Shaw, Sanjeev S. Bhaskar, Yasmina Ainaoui, Georgia King, Joanna Truelove, Emma Buckley, Chelsey Wheeler, Zena Salih, Claire L. Mitchell, Jurjees Hasan, Alexander D. Murphy, Reem D. Mahmood, W. David J. Ryder, George J. Burghel, Marcus Price, Daniel J. White, Andrew R. Clamp, Robert D. Morgan
Purpose:A single maintenance course of a PARP inhibitor (PARPi) improves progression-free survival (PFS) in germline BRCA1/2-mutant high-grade serous ovarian cancer (gBRCAm-HGSOC). The feasibility of a second maintenance course of PARPi was unknown.P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::383a4bd467a2e8ab9634c5efb3f01674
https://doi.org/10.1158/1078-0432.c.6533146
https://doi.org/10.1158/1078-0432.c.6533146
Autor:
Gordon C. Jayson, Richard J. Edmondson, Dominic G. Rothwell, Andrew J. Wallace, James P.B. O'Connor, Caroline Dive, Gerard Brady, Simon P. Pearce, Bedirhan Kilerci, D. Gareth R. Evans, Joseph Shaw, Sanjeev S. Bhaskar, Yasmina Ainaoui, Georgia King, Joanna Truelove, Emma Buckley, Chelsey Wheeler, Zena Salih, Claire L. Mitchell, Jurjees Hasan, Alexander D. Murphy, Reem D. Mahmood, W. David J. Ryder, George J. Burghel, Marcus Price, Daniel J. White, Andrew R. Clamp, Robert D. Morgan
Supplementary Methodology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ac4b273d975d5742c671ed36cc435ae
https://doi.org/10.1158/1078-0432.22490380
https://doi.org/10.1158/1078-0432.22490380
Autor:
Gordon C. Jayson, Richard J. Edmondson, Dominic G. Rothwell, Andrew J. Wallace, James P.B. O'Connor, Caroline Dive, Gerard Brady, Simon P. Pearce, Bedirhan Kilerci, D. Gareth R. Evans, Joseph Shaw, Sanjeev S. Bhaskar, Yasmina Ainaoui, Georgia King, Joanna Truelove, Emma Buckley, Chelsey Wheeler, Zena Salih, Claire L. Mitchell, Jurjees Hasan, Alexander D. Murphy, Reem D. Mahmood, W. David J. Ryder, George J. Burghel, Marcus Price, Daniel J. White, Andrew R. Clamp, Robert D. Morgan
Liquid biopsy time points.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e6c35925d33a5ace1475cad8e3ca56f
https://doi.org/10.1158/1078-0432.22490371
https://doi.org/10.1158/1078-0432.22490371
Autor:
Katherine V. Sadler, Charlie F. Rowlands, Philip T. Smith, Claire L. Hartley, Naomi L. Bowers, Nicola Y. Roberts, Jade L. Harris, Andrew J. Wallace, D. Gareth Evans, Ludwine M. Messiaen, Miriam J. Smith
Publikováno v:
Human Mutation. 43:643-654
Missense variants in the NF2 gene result in variable NF2 disease presentation. Clinical classification of missense variants often represents a challenge, due to lack of evidence for pathogenicity and function. This study provides a summary of NF2 mis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::099e3594389d642b306ea5ddadb14c36
https://doi.org/10.1002/humu.24370
https://doi.org/10.1002/humu.24370
Autor:
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
Publikováno v:
Br J Cancer
National guidelines recommend testing all cases of non-mucinous epithelial ovarian cancer (NMEOC) for germline (blood) and somatic (tumour) BRCA1/2 pathogenic variants (PVs). We performed paired germline and somatic BRCA1/2 testing in consecutive cas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db2b4ec442f0132dbfe163461a01eb74
https://doi.org/10.1038/s41416-022-01773-y
https://doi.org/10.1038/s41416-022-01773-y
Autor:
Ana Jovanovic, Christopher A. Miller, Heather J. Church, Andrew J Wallace, Christopher Orsborne, Sasalu Deepak, Christopher Cassidy, William G. Newman, Karen Tylee, Matthias Schmitt, Peter Woolfson, James Eden, Maria Xu
Publikováno v:
Cardiogenetics, Vol 11, Iss 1, Pp 1-9 (2021)
Newman, W, Orsborne, C, Xu, M, Miller, C, Schmitt, M, Jovanovic, A, Woolfson, P, Eden, J, Church, H J, Tylee, K L, Cassidy, C, Deepak, S & Wallace, A J 2020, ' Mosaic Fabry Disease in a Male Presenting as Hypertrophic Cardiomyopathy ', Cardiogenetics, vol. 11 . https://doi.org/10.3390/cardiogenetics11010001
Newman, W, Orsborne, C, Xu, M, Miller, C, Schmitt, M, Jovanovic, A, Woolfson, P, Eden, J, Church, H J, Tylee, K L, Cassidy, C, Deepak, S & Wallace, A J 2020, ' Mosaic Fabry Disease in a Male Presenting as Hypertrophic Cardiomyopathy ', Cardiogenetics, vol. 11 . https://doi.org/10.3390/cardiogenetics11010001
We describe a 55 year old male diagnosed with cardiomyopathy due to Fabry disease. Biochemical testing of blood spot and plasma showed low-normal alpha-galactosidase A (α-Gal A) levels. Genetic testing revealed somatic mosaicism for GLA c.901C>T, p.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1070498827447e926999bf0f59c9b7a
https://www.mdpi.com/2035-8148/11/1/1
https://www.mdpi.com/2035-8148/11/1/1
Autor:
Lucy Loong, Alice Garrett, Sophie Allen, Subin Choi, Miranda Durkie, Alison Callaway, James Drummond, George J. Burghel, Rachel Robinson, Beth Torr, Ian R. Berry, Andrew J. Wallace, Diana M. Eccles, Sian Ellard, Emma Baple, D. Gareth Evans, Emma R. Woodward, Anjana Kulkarni, Fiona Lalloo, Marc Tischkowitz, Anneke Lucassen, Helen Hanson, Clare Turnbull
Publikováno v:
CanVIG-UK 2022, ' Reclassification of clinically-detected sequence variants : Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK) ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 24, no. 9, pp. 1867-1877 . https://doi.org/10.1016/j.gim.2022.05.002
PURPOSE: Variant classifications may change over time, driven by emergence of fresh or contradictory evidence or evolution in weighing or combination of evidence items. For variant classifications above the actionability threshold, which is classific
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d795a4272373cf5fa5895b9eda2fd9d7
https://www.research.manchester.ac.uk/portal/en/publications/reclassification-of-clinicallydetected-sequence-variants(7f42d42c-b845-4c2a-990e-38d7439b0c1e).html
https://www.research.manchester.ac.uk/portal/en/publications/reclassification-of-clinicallydetected-sequence-variants(7f42d42c-b845-4c2a-990e-38d7439b0c1e).html