Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Nicola Flaum"'
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, Helene Schlecht, Gordon C. Jayson, D. Gareth R. Evans
Publikováno v:
Cancers, Vol 15, Iss 3, p 730 (2023)
Women diagnosed with non-mucinous high-grade epithelial ovarian cancer (EOC) in England are often reflex-tested for germline and tumour BRCA1/2 variants. The value of germline BRCA1/2 testing in women diagnosed aged ≥80 is questionable. We performe
Externí odkaz:
https://doaj.org/article/226d8028d5794a148682355578cb1be9
Autor:
Nicola Flaum, Emma J Crosbie, Emma Roisin Woodward, Fiona Lalloo, Robert Morgan, Neil Ryan, D Gareth Evans
Publikováno v:
Flaum, N, Crosbie, E J, Lalloo, F, Morgan, R, Ryan, N & Evans, D G 2023, ' MSH2is the very young onset ovarian cancer predisposition gene, notBRCA1 ', Journal of Medical Genetics . https://doi.org/10.1136/jmg-2022-109055
Flaum, N, Crosbie, E J, Woodward, E R, Lalloo, F, Morgan, R, Ryan, N & Evans, D G 2023, ' MSH2 is the very young onset ovarian cancer predisposition gene, not BRCA1 ', Journal of Medical Genetics . https://doi.org/10.1136/jmg-2022-109055
Flaum, N, Crosbie, E J, Woodward, E R, Lalloo, F, Morgan, R, Ryan, N & Evans, D G 2023, ' MSH2 is the very young onset ovarian cancer predisposition gene, not BRCA1 ', Journal of Medical Genetics . https://doi.org/10.1136/jmg-2022-109055
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a4d90271983fca89dabf9fd560449d6
https://research.manchester.ac.uk/en/publications/50ac61ae-4138-490d-9f61-a3e60aba67e0
https://research.manchester.ac.uk/en/publications/50ac61ae-4138-490d-9f61-a3e60aba67e0
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
Autor:
Stephanie Amico, Nicola Flaum, Olivia Smith, Emma J Crosbie, Richard J. Edmondson, D. Gareth Evans, Elke M van Veen, William G. Newman, Miriam J. Smith
Publikováno v:
Flaum, N, van Veen, E M, Smith, O, Amico, S, Newman, W, Crosbie, E, Edmondson, R, Smith, M J & Evans, D G 2022, ' Dominant-negative pathogenic variant BRIP1 c.1045G >C is a high-risk allele for non-mucinous epithelial ovarian cancer: a case-control study ', Clin Genet, vol. 101, no. 1, pp. 48-54 . https://doi.org/10.1111/cge.14068
BRIP1 is a moderate susceptibility epithelial ovarian cancer (EOC) gene. Having identified the BRIP1 c.1045G>C missense variant in a number of families with EOC, we aimed to investigate the frequency of this and BRIP1.2392C>T pathogenic variant in pa
Autor:
Nicola Flaum, John Bowes, Miriam J. Smith, Emma J. Crosbie, Richard Edmondson, Artitaya Lophatananon, D. Gareth Evans
Publikováno v:
Genetics in Medicine. :100898
Autor:
Robert D Morgan, George J Burghel, Nicola Flaum, Michael Bulman, Philip Smith, Andrew R Clamp, Jurjees Hasan, Claire Mitchell, Zena Salih, Emma R Woodward, Fiona Lalloo, Joseph Shaw, Sudha Desai, Emma J Crosbie, Richard J Edmondson, Helene Schlecht, Andrew J Wallace, Gordon C Jayson, D Gareth R Evans
Publikováno v:
Morgan, R D, Burghel, G J, Flaum, N, Bulman, M, Smith, P, Clamp, A R, Hasan, J, Mitchell, C, Salih, Z, Woodward, E R, Lalloo, F, Shaw, J, Desai, S, Crosbie, E J, Edmondson, R J, Schlecht, H, Wallace, A J, Jayson, G C & Evans, D G R 2022, ' Predicting the likelihood of a BRCA1/2 pathogenic variant being somatic by testing only tumour DNA in non-mucinous high-grade epithelial ovarian cancer ', Journal Of Clinical Pathology . https://doi.org/10.1136/jcp-2022-208369
Burghel, GJ, Flaum, N, Bulman, M, Clamp, AR, Hasan, J, Salih, Z, Lalloo, F, Shaw, J, Desai, S & Crosbie, EJ 2022, ' Predicting the likelihood of a BRCA1/2 pathogenic variant being somatic by testing only tumour DNA in non-mucinous high-grade epithelial ovarian cancer ', Journal Of Clinical Pathology . https://doi.org/10.1136/jcp-2022-208369
Burghel, GJ, Flaum, N, Bulman, M, Clamp, AR, Hasan, J, Salih, Z, Lalloo, F, Shaw, J, Desai, S & Crosbie, EJ 2022, ' Predicting the likelihood of a BRCA1/2 pathogenic variant being somatic by testing only tumour DNA in non-mucinous high-grade epithelial ovarian cancer ', Journal Of Clinical Pathology . https://doi.org/10.1136/jcp-2022-208369
AimsClinical guidelines recommend testing both germline and tumour DNA for BRCA1/2 pathogenic variants (PVs) in non-mucinous high-grade epithelial ovarian cancer (NMEOC). In this study, we show that some tumour BRCA1/2 PVs are highly likely to be som
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76400a7c00ab211c13628e824ace32a4
https://www.mendeley.com/catalogue/f0b4bc28-8cbb-3b9b-a445-022fcc539057/
https://www.mendeley.com/catalogue/f0b4bc28-8cbb-3b9b-a445-022fcc539057/
Autor:
Robert D, Morgan, George J, Burghel, Nicola, Flaum, Michael, Bulman, Philip, Smith, Andrew R, Clamp, Jurjees, Hasan, Claire, Mitchell, Zena, Salih, Emma R, Woodward, Fiona, Lalloo, Joseph, Shaw, Sudha, Desai, Emma J, Crosbie, Richard J, Edmondson, Helene, Schlecht, Andrew J, Wallace, Gordon C, Jayson, D Gareth R, Evans
Publikováno v:
Journal of clinical pathology.
Clinical guidelines recommend testing both germline and tumour DNA forAn observational study that included all tumourOne hundred and thirteen tumourWe predict the likelihood of a tumour
Autor:
Richard J. Edmondson, Nicola Flaum, Pierre L. Martin-Hirsch, Elaine F. Harkness, D. Gareth Evans, Richard D Clayton, Nicholas J Wood, Fiona Lalloo, Emma R. Woodward, Emma J Crosbie, Cathrine Holland, Patrick J. Keating, P. Donnai
Publikováno v:
International Journal of Cancer. 148:1155-1163
Risk-reducing bilateral salpingo-oophorectomy (RRBSO) is highly effective for the prevention of high-grade serous ovarian cancer (HGSOC) in BRCA1/2 pathogenic variant carriers (PVCs), but does not completely eliminate future risk of primary peritonea
Autor:
Nicola Flaum, Emma J. Crosbie, Richard Edmondson, Emma R. Woodward, Fiona Lalloo, Miriam J. Smith, Helene Schlecht, D. Gareth Evans
Publikováno v:
Flaum, N, Crosbie, E J, Edmondson, R, Woodward, E R, Lalloo, F, Smith, M J, Schlecht, H & Evans, D G 2022, ' High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer ', Genetics in Medicine, vol. 24, no. 12, pp. 2578-2586 . https://doi.org/10.1016/j.gim.2022.08.022
Flaum, N, Crosbie, E J, Edmondson, R, Woodward, E R, Lalloo, F, Smith, M J, Schlecht, H & Evans, D G 2022, ' High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 24, no. 12, pp. 2578-2586 . https://doi.org/10.1016/j.gim.2022.08.022
Flaum, N, Crosbie, E J, Edmondson, R, Woodward, E R, Lalloo, F, Smith, M J, Schlecht, H & Evans, D G 2022, ' High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 24, no. 12, pp. 2578-2586 . https://doi.org/10.1016/j.gim.2022.08.022
PURPOSE: Epithelial ovarian cancer (EOC) is associated with pathogenic variants (PVs) in homologous recombination and/or mismatch repair genes. We aimed to review the testing of women with familial EOC at our center.METHODS: Women with familial EOC (
Autor:
Andrew R Clamp, Gordon C Jayson, Martin Hogg, Sarah Moon, Doina Badea, Helene Schlecht, Fiona Lalloo, Elaine F. Harkness, Jurjees Hasan, Nicola Flaum, Dennis Hadjiyiannakis, Tara Clancy, Andrew J Wallace, George J Burghel, Claire Mitchell, Richard J. Edmondson, Robert D. Morgan, Emma J Crosbie, M Bulman, Emma R. Woodward, D. Gareth Evans
Publikováno v:
Eur J Hum Genet
Poly(ADP-ribose) polymerase (PARP) inhibitors improve survival in BRCA-mutant high-grade serous ovarian carcinoma. As a result, germline and somatic BRCA1/2 testing has become standard practice in women diagnosed with ovarian cancer. We outline chang