20 results on '"Loong, Lucy"'
Number of results to display per page
Search Results
2. Risks of second primary cancers among 584,965 female and male breast cancer survivors in England: a 25-year retrospective cohort study
- Author
-
Allen, Isaac, Hassan, Hend, Joko-Fru, Walburga Yvonne, Huntley, Catherine, Loong, Lucy, Rahman, Tameera, Torr, Bethany, Bacon, Andrew, Knott, Craig, Jose, Sophie, Vernon, Sally, Lüchtenborg, Margreet, Pethick, Joanna, Lavelle, Katrina, McRonald, Fiona, Eccles, Diana, Morris, Eva J.A, Hardy, Steven, Turnbull, Clare, Tischkowitz, Marc, Pharoah, Paul, and Antoniou, Antonis C.
- Published
- 2024
- Full Text
- View/download PDF
3. The comprehensive English National Lynch Syndrome Registry: development and description of a new genomics data resource
- Author
-
Cook, Jacqueline, Armstrong, Ruth, Ahmed, Munaza, McVeigh, Terri, DeSouza, Bianca, Kulkarni, Anjana, Bezuidenhout, Heirdre, Martin, Richard, Holliday, Debbie, Hart, Rachel, Lalloo, Fiona, Donaldson, Alan, Cleaver, Ruth, Willis, Catherine, Kiesel, Victoria, O'Reilly, Marie-Anne, Halliday, Dorothy, Solomons, Joyce, Ong, Kai Ren, Huntley, Catherine, Loong, Lucy, Mallinson, Corinne, Bethell, Rachel, Rahman, Tameera, Alhaddad, Neelam, Tulloch, Oliver, Zhou, Xue, Lee, Jason, Eves, Paul, McRonald, Fiona, Torr, Bethany, Burn, John, Shaw, Adam, Morris, Eva J.A., Monahan, Kevin, Hardy, Steven, and Turnbull, Clare
- Published
- 2024
- Full Text
- View/download PDF
4. The comprehensive English National Lynch Syndrome Registry: development and description of a new genomics data resource
- Author
-
Huntley, Catherine, primary, Loong, Lucy, additional, Mallinson, Corinne, additional, Bethell, Rachel, additional, Rahman, Tameera, additional, Alhaddad, Neelam, additional, Tulloch, Oliver, additional, Zhou, Xue, additional, Lee, Jason, additional, Eves, Paul, additional, McRonald, Fiona, additional, Torr, Bethany, additional, Burn, John, additional, Shaw, Adam, additional, Morris, Eva J.A., additional, Monahan, Kevin, additional, Hardy, Steven, additional, Turnbull, Clare, additional, Cook, Jacqueline, additional, Armstrong, Ruth, additional, Ahmed, Munaza, additional, McVeigh, Terri, additional, DeSouza, Bianca, additional, Kulkarni, Anjana, additional, Bezuidenhout, Heirdre, additional, Martin, Richard, additional, Holliday, Debbie, additional, Hart, Rachel, additional, Lalloo, Fiona, additional, Donaldson, Alan, additional, Cleaver, Ruth, additional, Willis, Catherine, additional, Kiesel, Victoria, additional, O'Reilly, Marie-Anne, additional, Halliday, Dorothy, additional, Solomons, Joyce, additional, and Ong, Kai Ren, additional
- Published
- 2024
- Full Text
- View/download PDF
5. Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey
- Author
-
Allen, Sophie, primary, Loong, Lucy, additional, Garrett, Alice, additional, Torr, Bethany, additional, Durkie, Miranda, additional, Drummond, James, additional, Callaway, Alison, additional, Robinson, Rachel, additional, Burghel, George J, additional, Hanson, Helen, additional, Field, Joanne, additional, McDevitt, Trudi, additional, McVeigh, Terri P, additional, Bedenham, Tina, additional, Bowles, Christopher, additional, Bradshaw, Kirsty, additional, Brooks, Claire, additional, Butler, Samantha, additional, Del Rey Jimenez, Juan Carlos, additional, Hawkes, Lorraine, additional, Stinton, Victoria, additional, MacMahon, Suzanne, additional, Owens, Martina, additional, Palmer-Smith, Sheila, additional, Smith, Kenneth, additional, Tellez, James, additional, Valganon-Petrizan, Mikel, additional, Waskiewicz, Erik, additional, Yau, Michael, additional, Eccles, Diana M, additional, Tischkowitz, Marc, additional, Goel, Shilpi, additional, McRonald, Fiona, additional, Antoniou, Antonis C, additional, Morris, Eva, additional, Hardy, Steven, additional, and Turnbull, Clare, additional
- Published
- 2023
- Full Text
- View/download PDF
6. Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey.
- Author
-
Allen, Sophie, Loong, Lucy, Garrett, Alice, Torr, Bethany, Durkie, Miranda, Drummond, James, Callaway, Alison, Robinson, Rachel, Burghel, George J., Hanson, Helen, Field, Joanne, McDevitt, Trudi, McVeigh, Terri P., Bedenham, Tina, Bowles, Christopher, Bradshaw, Kirsty, Brooks, Claire, Butler, Samantha, Del Rey Jimenez, Juan Carlos, and Hawkes, Lorraine
- Abstract
Background National and international amalgamation of genomic data offers opportunity for research and audit, including analyses enabling improved classification of variants of uncertain significance. Review of individual-level data from National Health Service (NHS) testing of cancer susceptibility genes (2002-2023) submitted to the National Disease Registration Service revealed heterogeneity across participating laboratories regarding (1) the structure, quality and completeness of submitted data, and (2) the ease with which that data could be assembled locally for submission. Methods In May 2023, we undertook a closed online survey of 51 clinical scientists who provided consensus responses representing all 17 of 17 NHS molecular genetic laboratories in England and Wales which undertake NHS diagnostic analyses of cancer susceptibility genes. The survey included 18 questions relating to 'next-generation sequencing workflow' (11), 'variant classification' (3) and 'phenotypical context' (4). Results Widely differing processes were reported for transfer of variant data into their local LIMS (Laboratory Information Management System), for the formatting in which the variants are stored in the LIMS and which classes of variants are retained in the local LIMS. Differing local provisions and workflow for variant classifications were also reported, including the resources provided and the mechanisms by which classifications are stored. Conclusion The survey responses illustrate heterogeneous laboratory workflow for preparation of genomic variant data from local LIMS for centralised submission. Workflow is often labour-intensive and inefficient, involving multiple manual steps which introduce opportunities for error. These survey findings and adoption of the concomitant recommendations may support improvement in laboratory dataflows, better facilitating submission of data for central amalgamation. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
7. Abstract 988: Long-term health outcomes of bilateral salpingo-oophorectomy in women with personal history of breast cancer
- Author
-
Hassan, Hend, primary, Rahman, Tameera, additional, Bacon, Andrew, additional, Knott, Craig, additional, Allen, Isaac, additional, Huntley, Catherine, additional, Loong, Lucy, additional, Walburga, Yvonne, additional, Lavelle, Katrina, additional, Morris, Eva, additional, Hardy, Steven, additional, Torr, Bethany, additional, Eccles, Diana M, additional, Turnbull, Clare, additional, Tischkowitz, Marc, additional, Pharoah, Paul, additional, and Antoniou, Antonis C., additional
- Published
- 2023
- Full Text
- View/download PDF
8. Abstract 3057: Second primary cancer risks for female and male breast cancer survivors
- Author
-
Allen, Isaac, primary, Rahman, Tameera, additional, Bacon, Andrew, additional, Knott, Craig, additional, Jose, Sophie, additional, Vernon, Sally, additional, Hassan, Hend, additional, Huntley, Catherine, additional, Loong, Lucy, additional, Walburga, Yvonne, additional, Lavelle, Katrina, additional, Morris, Eva, additional, Hardy, Steven, additional, Torr, Beth, additional, Eccles, Diana, additional, Turnbull, Clare, additional, Tischkowitz, Marc, additional, Pharoah, Paul, additional, and Antoniou, Antonis C., additional
- Published
- 2023
- Full Text
- View/download PDF
9. Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study
- Author
-
Loong, Lucy, primary, Tardivo, Agostina, additional, Knaus, Alexej, additional, Hashim, Mona, additional, Pagnamenta, Alistair T., additional, Alt, Kerstin, additional, Böhrer-Rabel, Helena, additional, Caro-Llopis, Alfonso, additional, Cole, Trevor, additional, Distelmaier, Felix, additional, Edery, Patrick, additional, Ferreira, Carlos R., additional, Jezela-Stanek, Aleksandra, additional, Kerr, Bronwyn, additional, Kluger, Gerhard, additional, Krawitz, Peter M., additional, Kuhn, Marius, additional, Lemke, Johannes R., additional, Lesca, Gaetan, additional, Lynch, Sally Ann, additional, Martinez, Francisco, additional, Maxton, Caroline, additional, Mierzewska, Hanna, additional, Monfort, Sandra, additional, Nicolai, Joost, additional, Orellana, Carmen, additional, Pal, Deb K., additional, Płoski, Rafał, additional, Quarrell, Oliver W., additional, Rosello, Monica, additional, Rydzanicz, Małgorzata, additional, Sabir, Ataf, additional, Śmigiel, Robert, additional, Stegmann, Alexander P.A., additional, Stewart, Helen, additional, Stumpel, Constance, additional, Szczepanik, Elżbieta, additional, Tzschach, Andreas, additional, Wolfe, Lynne, additional, Taylor, Jenny C., additional, Murakami, Yoshiko, additional, Kinoshita, Taroh, additional, Bayat, Allan, additional, and Kini, Usha, additional
- Published
- 2023
- Full Text
- View/download PDF
10. Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996–2020: development of a national resource of patient-level genomics laboratory records
- Author
-
Loong, Lucy, primary, Huntley, Catherine, additional, McRonald, Fiona, additional, Santaniello, Francesco, additional, Pethick, Joanna, additional, Torr, Bethany, additional, Allen, Sophie, additional, Tulloch, Oliver, additional, Goel, Shilpi, additional, Shand, Brian, additional, Rahman, Tameera, additional, Luchtenborg, Margreet, additional, Garrett, Alice, additional, Barber, Richard, additional, Bedenham, Tina, additional, Bourn, David, additional, Bradshaw, Kirsty, additional, Brooks, Claire, additional, Bruty, Jonathan, additional, Burghel, George J, additional, Butler, Samantha, additional, Buxton, Chris, additional, Callaway, Alison, additional, Callaway, Jonathan, additional, Drummond, James, additional, Durkie, Miranda, additional, Field, Joanne, additional, Jenkins, Lucy, additional, McVeigh, Terri P, additional, Mountford, Roger, additional, Nyanhete, Rodney, additional, Petrides, Evgenia, additional, Robinson, Rachel, additional, Scott, Tracy, additional, Stinton, Victoria, additional, Tellez, James, additional, Wallace, Andrew J, additional, Yarram-Smith, Laura, additional, Sahan, Kate, additional, Hallowell, Nina, additional, Eccles, Diana M, additional, Pharoah, Paul, additional, Tischkowitz, Marc, additional, Antoniou, Antonis C, additional, Evans, D Gareth, additional, Lalloo, Fiona, additional, Norbury, Gail, additional, Morris, Eva, additional, Burn, John, additional, Hardy, Steven, additional, and Turnbull, Clare, additional
- Published
- 2022
- Full Text
- View/download PDF
11. Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK)
- Author
-
Loong, Lucy, primary, Garrett, Alice, additional, Allen, Sophie, additional, Choi, Subin, additional, Durkie, Miranda, additional, Callaway, Alison, additional, Drummond, James, additional, Burghel, George J., additional, Robinson, Rachel, additional, Torr, Beth, additional, Berry, Ian R., additional, Wallace, Andrew J., additional, Eccles, Diana M., additional, Ellard, Sian, additional, Baple, Emma, additional, Evans, D. Gareth, additional, Woodward, Emma R., additional, Kulkarni, Anjana, additional, Lalloo, Fiona, additional, Tischkowitz, Marc, additional, Lucassen, Anneke, additional, Hanson, Helen, additional, and Turnbull, Clare, additional
- Published
- 2022
- Full Text
- View/download PDF
12. Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.
- Author
-
Loong, Lucy, Huntley, Catherine, McRonald, Fiona, Santaniello, Francesco, Pethick, Joanna, Torr, Bethany, Allen, Sophie, Tulloch, Oliver, Goel, Shilpi, Shand, Brian, Rahman, Tameera, Luchtenborg, Margreet, Garrett, Alice, Barber, Richard, Bedenham, Tina, Bourn, David, Bradshaw, Kirsty, Brooks, Claire, Bruty, Jonathan, and Burghel, George J.
- Abstract
Objective To describe national patterns of National Health Service (NHS) analysis of mismatch repair (MMR) genes in England using individual-level data submitted to the National Disease Registration Service (NDRS) by the NHS regional molecular genetics laboratories. Design Laboratories submitted individual-level patient data to NDRS against a prescribed data model, including (1) patient identifiers, (2) test episode data, (3) per-gene results and (4) detected sequence variants. Individualised per-laboratory algorithms were designed and applied in NDRS to extract and map the data to the common data model. Laboratory-level MMR activity audit data from the Clinical Molecular Genetics Society/Association of Clinical Genomic Science were used to assess early years' missing data. Results Individual-level data from patients undergoing NHS MMR germline genetic testing were submitted from all 13 English laboratories performing MMR analyses, comprising in total 16 722 patients (9649 full-gene, 7073 targeted), with the earliest submission from 2000. The NDRS dataset is estimated to comprise >60% of NHS MMR analyses performed since inception of NHS MMR analysis, with complete national data for full-gene analyses for 2016 onwards. Out of 9649 full-gene tests, 2724 had an abnormal result, approximately 70% of which were (likely) pathogenic. Data linkage to the National Cancer Registry demonstrated colorectal cancer was the most frequent cancer type in which full-gene analysis was performed. Conclusion The NDRS MMR dataset is a unique national pan-laboratory amalgamation of individual-level clinical and genomic patient data with pseudonymised identifiers enabling linkage to other national datasets. This growing resource will enable longitudinal research and can form the basis of a live national genomic disease registry. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
13. A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot
- Author
-
Torr, Bethany, primary, Jones, Christopher, additional, Choi, Subin, additional, Allen, Sophie, additional, Kavanaugh, Grace, additional, Hamill, Monica, additional, Garrett, Alice, additional, MacMahon, Suzanne, additional, Loong, Lucy, additional, Reay, Alistair, additional, Yuan, Lina, additional, Valganon Petrizan, Mikel, additional, Monson, Kathryn, additional, Perry, Nicky, additional, Fallowfield, Lesley, additional, Jenkins, Valerie, additional, Gold, Rochelle, additional, Taylor, Amy, additional, Gabe, Rhian, additional, Wiggins, Jennifer, additional, Lucassen, Anneke, additional, Manchanda, Ranjit, additional, Gandhi, Ashu, additional, George, Angela, additional, Hubank, Michael, additional, Kemp, Zoe, additional, Evans, D Gareth, additional, Bremner, Stephen, additional, and Turnbull, Clare, additional
- Published
- 2022
- Full Text
- View/download PDF
14. UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
- Author
-
Hanson, Helen, Kulkarni, Anjana, Loong, Lucy, Kavanaugh, Grace, Torr, Bethany, Allen, Sophie, Ahmed, Munaza, Antoniou, Antonis C., Cleaver, Ruth, Dabir, Tabib, Gareth Evans, D., Golightly, Ellen, Jewell, Rosalyn, Kohut, Kelly, Manchanda, Ranjit, Murray, Alex, Murray, Jennie, Ong, Kai-Ren, Rosenthal, Adam N., and Woodward, Emma Roisin
- Abstract
Germline pathogenic variants (GPVs) in the cancer predisposition genes BRCA1, BRCA2, MLH1, MSH2, MSH6, BRIP1, PALB2, RAD51D and RAD51C are identified in approximately 15% of patients with ovarian cancer (OC). While there are clear guidelines around clinical management of cancer risk in patients with GPV in BRCA1, BRCA2, MLH1, MSH2 and MSH6, there are few guidelines on how to manage the more moderate OC risk in patients with GPV in BRIP1, PALB2, RAD51D and RAD51C, with clinical questions about appropriateness and timing of risk-reducing gynaecological surgery. Furthermore, while recognition of RAD51C and RAD51D as OC predisposition genes has been established for several years, an association with breast cancer (BC) has only more recently been described and clinical management of this risk has been unclear. With expansion of genetic testing of these genes to all patients with non-mucinous OC, new data on BC risk and improved estimates of OC risk, the UK Cancer Genetics Group and CanGene-CanVar project convened a 2-day meeting to reach a national consensus on clinical management of BRIP1, PALB2, RAD51D and RAD51C carriers in clinical practice. In this paper, we present a summary of the processes used to reach and agree on a consensus, as well as the key recommendations from the meeting. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
15. Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder
- Author
-
Melland, Holly, primary, Bumbak, Fabian, additional, Kolesnik-Taylor, Anna, additional, Ng-Cordell, Elise, additional, John, Abinayah, additional, Constantinou, Panayiotis, additional, Joss, Shelagh, additional, Larsen, Martin, additional, Fagerberg, Christina, additional, Laulund, Lone Walentin, additional, Thies, Jenny, additional, Emslie, Frances, additional, Willemsen, Marjolein, additional, Kleefstra, Tjitske, additional, Pfundt, Rolf, additional, Barrick, Rebekah, additional, Chang, Richard, additional, Loong, Lucy, additional, Alfadhel, Majid, additional, van der Smagt, Jasper, additional, Nizon, Mathilde, additional, Kurian, Manju A., additional, Scott, Daniel J., additional, Ziarek, Joshua J., additional, Gordon, Sarah L., additional, and Baker, Kate, additional
- Published
- 2022
- Full Text
- View/download PDF
16. Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants
- Author
-
Loong, Lucy, primary, Cubuk, Cankut, additional, Choi, Subin, additional, Allen, Sophie, additional, Torr, Beth, additional, Garrett, Alice, additional, Loveday, Chey, additional, Durkie, Miranda, additional, Callaway, Alison, additional, Burghel, George J., additional, Drummond, James, additional, Robinson, Rachel, additional, Berry, Ian R., additional, Wallace, Andrew, additional, Eccles, Diana M., additional, Tischkowitz, Marc, additional, Ellard, Sian, additional, Ware, James S., additional, Hanson, Helen, additional, Turnbull, Clare, additional, Samant, S., additional, Lucassen, A., additional, Znaczko, A., additional, Shaw, A., additional, Ansari, A., additional, Kumar, A., additional, Donaldson, A., additional, Murray, A., additional, Ross, A., additional, Taylor-Beadling, A., additional, Taylor, A., additional, Innes, A., additional, Brady, A., additional, Kulkarni, A., additional, Hogg, A.-C., additional, Bowden, A. Ramsay, additional, Hadonou, A., additional, Coad, B., additional, McIldowie, B., additional, Speight, B., additional, DeSouza, B., additional, Mullaney, B., additional, McKenna, C., additional, Brewer, C., additional, Olimpio, C., additional, Clabby, C., additional, Crosby, C., additional, Jenkins, C., additional, Armstrong, C., additional, Bowles, C., additional, Brooks, C., additional, Byrne, C., additional, Maurer, C., additional, Baralle, D., additional, Chubb, D., additional, Stobo, D., additional, Moore, D., additional, O'Sullivan, D., additional, Donnelly, D., additional, Randhawa, D., additional, Halliday, D., additional, Atkinson, E., additional, Baple, E., additional, Rauter, E., additional, Johnston, E., additional, Woodward, E., additional, Maher, E., additional, Sofianopoulou, E., additional, Petrides, E., additional, Lalloo, F., additional, McRonald, F., additional, Pelz, F., additional, Frayling, I., additional, Evans, G., additional, Corbett, G., additional, Rea, G., additional, Clouston, H., additional, Powell, H., additional, Williamson, H., additional, Carley, H., additional, Thomas, H.J.W., additional, Tomlinson, I., additional, Cook, J., additional, Hoyle, J., additional, Tellez, J., additional, Whitworth, J., additional, Williams, J., additional, Murray, J., additional, Campbell, J., additional, Tolmie, J., additional, Field, J., additional, Mason, J., additional, Burn, J., additional, Bruty, J., additional, Callaway, J., additional, Grant, J., additional, Del Rey Jimenez, J., additional, Pagan, J., additional, VanCampen, J., additional, Barwell, J., additional, Monahan, K., additional, Tatton-Brown, K., additional, Ong, K.-R., additional, Murphy, K., additional, Andrews, K., additional, Mokretar, K., additional, Cadoo, K., additional, Smith, K., additional, Baker, K., additional, Brown, K., additional, Reay, K., additional, McKay Bounford, K., additional, Bradshaw, K., additional, Russell, K., additional, Stone, K., additional, Snape, K., additional, Crookes, L., additional, Reed, L., additional, Taggart, L., additional, Yarram, L., additional, Cobbold, L., additional, Walker, L., additional, Hawkes, L., additional, Busby, L., additional, Izatt, L., additional, Kiely, L., additional, Hughes, L., additional, Side, L., additional, Sarkies, L., additional, Greenhalgh, K.-L., additional, Shanmugasundaram, M., additional, Duff, M., additional, Bartlett, M., additional, Watson, M., additional, Owens, M., additional, Bradford, M., additional, Huxley, M., additional, Slean, M., additional, Ryten, M., additional, Smith, M., additional, Ahmed, M., additional, Roberts, N., additional, O'Brien, C., additional, Middleton, O., additional, Tarpey, P., additional, Logan, P., additional, Dean, P., additional, May, P., additional, Brace, P., additional, Tredwell, R., additional, Harrison, R., additional, Hart, R., additional, Kirk, R., additional, Martin, R., additional, Nyanhete, R., additional, Wright, R., additional, Davidson, R., additional, Cleaver, R., additional, Talukdar, S., additional, Butler, S., additional, Sampson, J., additional, Ribeiro, S., additional, Dell, S., additional, Mackenzie, S., additional, Hegarty, S., additional, Albaba, S., additional, McKee, S., additional, Palmer-Smith, S., additional, Heggarty, S., additional, MacParland, S., additional, Greville-Heygate, S., additional, Daniels, S., additional, Prapa, S., additional, Abbs, S., additional, Tennant, S., additional, Hardy, S., additional, MacMahon, S., additional, McVeigh, T., additional, Foo, T., additional, Bedenham, T., additional, Cranston, T., additional, McDevitt, T., additional, Clowes, V., additional, Tripathi, V., additional, McConnell, V., additional, Woodwaer, N., additional, Wallis, Y., additional, Kemp, Z., additional, Mullan, G., additional, Pierson, L., additional, Rainey, L., additional, Joyce, C., additional, Timbs, A., additional, Reuther, A.-M., additional, Frugtniet, B., additional, Husher, C., additional, Lawn, C., additional, Corbett, C., additional, Nocera-Jijon, D., additional, Reay, D., additional, Cross, E., additional, Ryan, F., additional, Lindsay, H., additional, Oliver, J., additional, Dring, J., additional, Spiers, J., additional, Harper, J., additional, Ciucias, K., additional, Connolly, L., additional, Tsang, M., additional, Brown, R., additional, Shepherd, S., additional, Begum, S., additional, Tadiso, T., additional, Linton-Willoughby, T., additional, Heppell, H., additional, Sahan, K., additional, Worrillow, L., additional, Allen, Z., additional, Barlett, M., additional, Watt, C., additional, and Hegarty, M., additional
- Published
- 2022
- Full Text
- View/download PDF
17. UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1and PALB2
- Author
-
Hanson, Helen, Kulkarni, Anjana, Loong, Lucy, Kavanaugh, Grace, Torr, Bethany, Allen, Sophie, Ahmed, Munaza, Antoniou, Antonis C, Cleaver, Ruth, Dabir, Tabib, Evans, D Gareth, Golightly, Ellen, Jewell, Rosalyn, Kohut, Kelly, Manchanda, Ranjit, Murray, Alex, Murray, Jennie, Ong, Kai-Ren, Rosenthal, Adam N, Woodward, Emma Roisin, Eccles, Diana M, Turnbull, Clare, Tischkowitz, Marc, and Lalloo, Fiona
- Abstract
Germline pathogenic variants (GPVs) in the cancer predisposition genes BRCA1, BRCA2, MLH1, MSH2, MSH6, BRIP1, PALB2, RAD51Dand RAD51Care identified in approximately 15% of patients with ovarian cancer (OC). While there are clear guidelines around clinical management of cancer risk in patients with GPV in BRCA1, BRCA2, MLH1, MSH2and MSH6, there are few guidelines on how to manage the more moderate OC risk in patients with GPV in BRIP1, PALB2, RAD51Dand RAD51C, with clinical questions about appropriateness and timing of risk-reducing gynaecological surgery. Furthermore, while recognition of RAD51Cand RAD51Das OC predisposition genes has been established for several years, an association with breast cancer (BC) has only more recently been described and clinical management of this risk has been unclear. With expansion of genetic testing of these genes to all patients with non-mucinous OC, new data on BC risk and improved estimates of OC risk, the UK Cancer Genetics Group and CanGene-CanVar project convened a 2-day meeting to reach a national consensus on clinical management of BRIP1, PALB2, RAD51Dand RAD51Ccarriers in clinical practice. In this paper, we present a summary of the processes used to reach and agree on a consensus, as well as the key recommendations from the meeting.
- Published
- 2023
- Full Text
- View/download PDF
18. Biallelic variants in PIGNcause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study
- Author
-
Loong, Lucy, Tardivo, Agostina, Knaus, Alexej, Hashim, Mona, Pagnamenta, Alistair T., Alt, Kerstin, Böhrer-Rabel, Helena, Caro-Llopis, Alfonso, Cole, Trevor, Distelmaier, Felix, Edery, Patrick, Ferreira, Carlos R., Jezela-Stanek, Aleksandra, Kerr, Bronwyn, Kluger, Gerhard, Krawitz, Peter M., Kuhn, Marius, Lemke, Johannes R., Lesca, Gaetan, Lynch, Sally Ann, Martinez, Francisco, Maxton, Caroline, Mierzewska, Hanna, Monfort, Sandra, Nicolai, Joost, Orellana, Carmen, Pal, Deb K., Płoski, Rafał, Quarrell, Oliver W., Rosello, Monica, Rydzanicz, Małgorzata, Sabir, Ataf, Śmigiel, Robert, Stegmann, Alexander P.A., Stewart, Helen, Stumpel, Constance, Szczepanik, Elżbieta, Tzschach, Andreas, Wolfe, Lynne, Taylor, Jenny C., Murakami, Yoshiko, Kinoshita, Taroh, Bayat, Allan, and Kini, Usha
- Abstract
Biallelic PIGNvariants have been described in Fryns syndrome, multiple congenital anomalies-hypotonia-seizure syndrome (MCAHS), and neurologic phenotypes. The full spectrum of clinical manifestations in relation to the genotypes is yet to be reported.
- Published
- 2023
- Full Text
- View/download PDF
19. Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1and MSH2missense variants
- Author
-
Loong, Lucy, Cubuk, Cankut, Choi, Subin, Allen, Sophie, Torr, Beth, Garrett, Alice, Loveday, Chey, Durkie, Miranda, Callaway, Alison, Burghel, George J., Drummond, James, Robinson, Rachel, Berry, Ian R., Wallace, Andrew, Eccles, Diana M., Tischkowitz, Marc, Ellard, Sian, Ware, James S., Hanson, Helen, Turnbull, Clare, Samant, S., Lucassen, A., Znaczko, A., Shaw, A., Ansari, A., Kumar, A., Donaldson, A., Murray, A., Ross, A., Taylor-Beadling, A., Taylor, A., Innes, A., Brady, A., Kulkarni, A., Hogg, A.-C., Bowden, A. Ramsay, Hadonou, A., Coad, B., McIldowie, B., Speight, B., DeSouza, B., Mullaney, B., McKenna, C., Brewer, C., Olimpio, C., Clabby, C., Crosby, C., Jenkins, C., Armstrong, C., Bowles, C., Brooks, C., Byrne, C., Maurer, C., Baralle, D., Chubb, D., Stobo, D., Moore, D., O'Sullivan, D., Donnelly, D., Randhawa, D., Halliday, D., Atkinson, E., Baple, E., Rauter, E., Johnston, E., Woodward, E., Maher, E., Sofianopoulou, E., Petrides, E., Lalloo, F., McRonald, F., Pelz, F., Frayling, I., Evans, G., Corbett, G., Rea, G., Clouston, H., Powell, H., Williamson, H., Carley, H., Thomas, H.J.W., Tomlinson, I., Cook, J., Hoyle, J., Tellez, J., Whitworth, J., Williams, J., Murray, J., Campbell, J., Tolmie, J., Field, J., Mason, J., Burn, J., Bruty, J., Callaway, J., Grant, J., Del Rey Jimenez, J., Pagan, J., VanCampen, J., Barwell, J., Monahan, K., Tatton-Brown, K., Ong, K.-R., Murphy, K., Andrews, K., Mokretar, K., Cadoo, K., Smith, K., Baker, K., Brown, K., Reay, K., McKay Bounford, K., Bradshaw, K., Russell, K., Stone, K., Snape, K., Crookes, L., Reed, L., Taggart, L., Yarram, L., Cobbold, L., Walker, L., Walker, L., Hawkes, L., Busby, L., Izatt, L., Kiely, L., Hughes, L., Side, L., Sarkies, L., Greenhalgh, K.-L., Shanmugasundaram, M., Duff, M., Bartlett, M., Watson, M., Owens, M., Bradford, M., Huxley, M., Slean, M., Ryten, M., Smith, M., Ahmed, M., Roberts, N., O'Brien, C., Middleton, O., Tarpey, P., Logan, P., Dean, P., May, P., Brace, P., Tredwell, R., Harrison, R., Hart, R., Kirk, R., Martin, R., Nyanhete, R., Wright, R., Martin, R., Davidson, R., Cleaver, R., Talukdar, S., Butler, S., Sampson, J., Ribeiro, S., Dell, S., Mackenzie, S., Hegarty, S., Albaba, S., McKee, S., Palmer-Smith, S., Heggarty, S., MacParland, S., Greville-Heygate, S., Daniels, S., Prapa, S., Abbs, S., Tennant, S., Hardy, S., MacMahon, S., McVeigh, T., Foo, T., Bedenham, T., Cranston, T., McDevitt, T., Clowes, V., Tripathi, V., McConnell, V., Woodwaer, N., Wallis, Y., Kemp, Z., Mullan, G., Pierson, L., Rainey, L., Joyce, C., Timbs, A., Reuther, A.-M., Frugtniet, B., DeSouza, B., Husher, C., Lawn, C., Corbett, C., Nocera-Jijon, D., Reay, D., Cross, E., Ryan, F., Lindsay, H., Oliver, J., Dring, J., Spiers, J., Harper, J., Ciucias, K., Connolly, L., Tsang, M., Brown, R., Shepherd, S., Begum, S., Daniels, S., Tadiso, T., Linton-Willoughby, T., Heppell, H., Sahan, K., Worrillow, L., Allen, Z., Barlett, M., Watt, C., and Hegarty, M.
- Abstract
Conditions and thresholds applied for evidence weighting of within-codon concordance (PM5) for pathogenicity vary widely between laboratories and expert groups. Because of the sparseness of available clinical classifications, there is little evidence for variation in practice.
- Published
- 2022
- Full Text
- View/download PDF
20. Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study.
- Author
-
Loong L, Huntley C, Pethick J, McRonald F, Santaniello F, Shand B, Tulloch O, Goel S, Lüchtenborg M, Allen S, Torr B, Snape K, George A, Lalloo F, Norbury G, Eccles DM, Tischkowitz M, Antoniou AC, Pharoah P, Shaw A, Morris E, Burn J, Monahan K, Hardy S, and Turnbull C
- Abstract
Background: For female patients with Lynch syndrome (LS), endometrial cancer (EC) is often their first cancer diagnosis. A testing pathway of somatic tumour testing triage followed by germline mismatch repair (MMR) gene testing is an effective way of identifying the estimated 3% of EC caused by LS., Methods: A retrospective national population-based observational study was conducted using comprehensive national data collections of functional, somatic and germline MMR tests available via the English National Cancer Registration Dataset. For all EC diagnosed in 2019, the proportion tested, median time to test, yield of abnormal results and factors influencing testing pathway initiation were examined., Results: There was an immunohistochemistry (IHC) or microsatellite instability (MSI) test recorded for 17.8% (1408/7928) of patients diagnosed with EC in 2019. Proportions tested varied by Cancer Alliance and age. There was an MLH1 promoter hypermethylation test recorded for 43.1% (149/346) of patients with MLH1 protein IHC loss or MSI. Of patients with EC eligible from tumour-testing, 25% (26/104) had a germline MMR test recorded. Median time from cancer diagnosis to germline MMR test was 315 days (IQR 222-486)., Conclusion: This analysis highlights the regional variation in recorded testing, patient attrition, delays and missed opportunities to diagnose LS, providing an informative baseline for measuring the impact of the national guidance from the National Institute for Health and Care Excellence on universal reflex LS testing in EC, implemented in 2020., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY. Published by BMJ.)
- Published
- 2024
- Full Text
- View/download PDF
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.