Search Results - "Lucy Loong"

A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot by Torr, Bethany, Jones, Christopher, Choi, Subin, Allen, Sophie, Kavanaugh, Grace, Hamill, Monica, Garrett, Alice, MacMahon, Suzanne, Loong, Lucy, Reay, Alistair, Yuan, Lina, Valganon Petrizan, Mikel, Monson, Kathryn, Perry, Nicky, Fallowfield, Lesley, Jenkins, Valerie, Gold, Rochelle, Taylor, Amy, Gabe, Rhian, Wiggins, Jennifer, Lucassen, Anneke, Manchanda, Ranjit, Gandhi, Ashu, George, Angela, Hubank, Michael, Kemp, Zoe, Evans, D Gareth, Bremner, Stephen, Turnbull, Clare

“…Germline genetic testing affords multiple opportunities for women with breast cancer, however, current UK NHS models for delivery of germline genetic testing…”
Get more information

Second Primary Cancer Risks After Breast Cancer in BRCA1 and BRCA2 Pathogenic Variant Carriers by Allen, Isaac, Hassan, Hend, Walburga, Yvonne, Huntley, Catherine, Loong, Lucy, Rahman, Tameera, Allen, Sophie, Garrett, Alice, Torr, Bethany, Bacon, Andrew, Knott, Craig, Jose, Sophie, Vernon, Sally, Lüchtenborg, Margreet, Pethick, Joanna, Santaniello, Francesco, Goel, Shilpi, Wang, Ying-Wen, Lavelle, Katrina, McRonald, Fiona, Eccles, Diana, Morris, Eva, Hardy, Steven, Turnbull, Clare, Tischkowitz, Marc, Pharoah, Paul, Antoniou, Antonis C

“…Second primary cancer (SPC) risks after breast cancer (BC) in pathogenic variant (PV) carriers are uncertain. We estimated relative and absolute risks using a…”
Get full text

Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice by Pagnamenta, Alistair T, Heemeryck, Pierre, Martin, Hilary C, Bosc, Christophe, Peris, Leticia, Uszynski, Ivy, Gory-Fauré, Sylvie, Couly, Simon, Deshpande, Charu, Siddiqui, Ata, Elmonairy, Alaa A, Jayawant, Sandeep, Murthy, Sarada, Walker, Ian, Loong, Lucy, Bauer, Peter, Vossier, Frédérique, Denarier, Eric, Maurice, Tangui, Barbier, Emmanuel L, Deloulme, Jean-Christophe, Taylor, Jenny C, Blair, Edward M, Andrieux, Annie, Moutin, Marie-Jo

“…Reversible detyrosination of tubulin, the building block of microtubules, is crucial for neuronal physiology. Enzymes responsible for detyrosination were…”
Get full text

Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK) by Loong, Lucy, Garrett, Alice, Allen, Sophie, Choi, Subin, Durkie, Miranda, Callaway, Alison, Drummond, James, Burghel, George J, Robinson, Rachel, Torr, Beth, Berry, Ian R, Wallace, Andrew J, Eccles, Diana M, Ellard, Sian, Baple, Emma, Evans, D Gareth, Woodward, Emma R, Kulkarni, Anjana, Lalloo, Fiona, Tischkowitz, Marc, Lucassen, Anneke, Hanson, Helen, Turnbull, Clare

“…Variant classifications may change over time, driven by emergence of fresh or contradictory evidence or evolution in weighing or combination of evidence items…”
Get full text

UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C , RAD51D , BRIP1 and PALB2 by 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, Lalloo, Fiona

“…Germline pathogenic variants (GPVs) in the cancer predisposition genes , , , , , , , and are identified in approximately 15% of patients with ovarian cancer…”
Get more information

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder by Melland, Holly, Bumbak, Fabian, Kolesnik-Taylor, Anna, Ng-Cordell, Elise, John, Abinayah, Constantinou, Panayiotis, Joss, Shelagh, Larsen, Martin, Fagerberg, Christina, Laulund, Lone Walentin, Thies, Jenny, Emslie, Frances, Willemsen, Marjolein, Kleefstra, Tjitske, Pfundt, Rolf, Barrick, Rebekah, Chang, Richard, Loong, Lucy, Alfadhel, Majid, van der Smagt, Jasper, Nizon, Mathilde, Kurian, Manju A., Scott, Daniel J., Ziarek, Joshua J., Gordon, Sarah L., Baker, Kate

“…Synaptotagmin-1 (SYT1) is a critical mediator of neurotransmitter release in the central nervous system. Previously reported missense SYT1 variants in the C2B…”
Get full text

Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey by 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, Hawkes, Lorraine, Stinton, Victoria, MacMahon, Suzanne, Owens, Martina, Palmer-Smith, Sheila, Smith, Kenneth, Tellez, James, Valganon-Petrizan, Mikel, Waskiewicz, Erik, Yau, Michael, Eccles, Diana M, Tischkowitz, Marc, Goel, Shilpi, McRonald, Fiona, Antoniou, Antonis C, Morris, Eva, Hardy, Steven, Turnbull, Clare

“…National and international amalgamation of genomic data offers opportunity for research and audit, including analyses enabling improved classification of…”
Get more information

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 by 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, Burghel, George J, Butler, Samantha, Buxton, Chris, Callaway, Alison, Callaway, Jonathan, Drummond, James, Durkie, Miranda, Field, Joanne, Jenkins, Lucy, McVeigh, Terri P, Mountford, Roger, Nyanhete, Rodney, Petrides, Evgenia, Robinson, Rachel, Scott, Tracy, Stinton, Victoria, Tellez, James, Wallace, Andrew J, Yarram-Smith, Laura, Sahan, Kate, Hallowell, Nina, Eccles, Diana M, Pharoah, Paul, Tischkowitz, Marc, Antoniou, Antonis C, Evans, D Gareth, Lalloo, Fiona, Norbury, Gail, Morris, Eva, Burn, John, Hardy, Steven, Turnbull, Clare

“…To describe national patterns of National Health Service (NHS) analysis of mismatch repair (MMR) genes in England using individual-level data submitted to the…”
Get more information

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study by 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, Kini, Usha

“…Biallelic PIGN variants have been described in Fryns syndrome, multiple congenital anomalies-hypotonia-seizure syndrome (MCAHS), and neurologic phenotypes. The…”
Get full text

HNRNPH1‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome by Reichert, Sara C., Li, Rachel, Turner, Scott, Jaarsveld, Richard H., Massink, Maarten P.G., Boogaard, Marie‐José H., Toro, Mireia, Rodríguez‐Palmero, Agustí, Fourcade, Stéphane, Schlüter, Agatha, Planas‐Serra, Laura, Pujol, Aurora, Iascone, Maria, Maitz, Silvia, Loong, Lucy, Stewart, Helen, De Franco, Elisa, Ellard, Sian, Frank, Julie, Lewandowski, Raymond

“…Pathogenic variants in HNRNPH1 were first reported in 2018. The reported individual, a 13 year old boy with a c.616C>T (p.R206W) variant in the HNRNPH1 gene,…”
Get full text

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants by Loong, Lucy, Cubuk, Cankut, Garrett, Alice, Loveday, Chey, Durkie, Miranda, Wallace, Andrew, Eccles, Diana M., Tischkowitz, Marc, Ellard, Sian, Ware, James S., Turnbull, Clare, Ansari, A., Kumar, A., Donaldson, A., Brady, A., Hogg, A.-C., Bowden, A. Ramsay, Coad, B., Speight, B., DeSouza, B., Olimpio, C., Clabby, C., Byrne, C., Maurer, C., Baralle, D., Moore, D., Donnelly, D., Atkinson, E., Baple, E., Woodward, E., Petrides, E., McRonald, F., Pelz, F., Rea, G., Powell, H., Carley, H., Thomas, H.J.W., Cook, J., Hoyle, J., Murray, J., Field, J., Burn, J., Bruty, J., Grant, J., Barwell, J., Monahan, K., Tatton-Brown, K., Mokretar, K., Reay, K., Russell, K., Stone, K., Reed, L., Cobbold, L., Busby, L., Izatt, L., Side, L., Sarkies, L., Bartlett, M., Watson, M., Bradford, M., Huxley, M., Ryten, M., Roberts, N., O'Brien, C., Middleton, O., Tarpey, P., Logan, P., Dean, P., May, P., Brace, P., Tredwell, R., Hart, R., Martin, R., Nyanhete, R., Wright, R., Davidson, R., Talukdar, S., Butler, S., Ribeiro, S., Daniels, S., Abbs, S., Foo, T., Bedenham, T., Cranston, T., Woodwaer, N., Wallis, Y., Mullan, G., Reuther, A.-M., Lawn, C., Nocera-Jijon, D., Cross, E., Harper, J., Ciucias, K., Connolly, L., Tsang, M., Tadiso, T., Sahan, K., Worrillow, L., Barlett, M., Watt, C.

“…Conditions and thresholds applied for evidence weighting of within-codon concordance (PM5) for pathogenicity vary widely between laboratories and expert…”
Get full text

Risks of second primary cancers among 584,965 female and male breast cancer survivors in England: a 25-year retrospective cohort study by 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, Antoniou, Antonis C.

“…Second primary cancers (SPCs) after breast cancer (BC) present an increasing public health burden, with little existing research on socio-demographic, tumour,…”
Get full text

Abstract 988: Long-term health outcomes of bilateral salpingo-oophorectomy in women with personal history of breast cancer by Hassan, Hend, Rahman, Tameera, Bacon, Andrew, Knott, Craig, Allen, Isaac, Huntley, Catherine, Loong, Lucy, Walburga, Yvonne, Lavelle, Katrina, Morris, Eva, Hardy, Steven, Torr, Bethany, Eccles, Diana M, Turnbull, Clare, Tischkowitz, Marc, Pharoah, Paul, Antoniou, Antonis C.

“…Abstract Introduction: Breast cancer is the most common cancer in women. Women with personal history of breast cancer are at increased risk of second primary…”
Get full text

Abstract 3057: Second primary cancer risks for female and male breast cancer survivors by Allen, Isaac, Rahman, Tameera, Bacon, Andrew, Knott, Craig, Jose, Sophie, Vernon, Sally, Hassan, Hend, Huntley, Catherine, Loong, Lucy, Walburga, Yvonne, Lavelle, Katrina, Morris, Eva, Hardy, Steven, Torr, Beth, Eccles, Diana, Turnbull, Clare, Tischkowitz, Marc, Pharoah, Paul, Antoniou, Antonis C.

“…Abstract Background: Second primary cancer (SPC) incidence is rising among breast cancer (BC) survivors, but these risks remain unclear. We estimated SPC risks…”
Get full text

Risks of second primary cancers among 584,965 female and male breast cancer survivors in England: a 25-year retrospective cohort studyResearch in context by Isaac Allen, Hend Hassan, Walburga Yvonne Joko-Fru, Catherine Huntley, Lucy Loong, Tameera Rahman, Bethany Torr, Andrew Bacon, Craig Knott, Sophie Jose, Sally Vernon, Margreet Lüchtenborg, Joanna Pethick, Katrina Lavelle, Fiona McRonald, Diana Eccles, Eva J.A Morris, Steven Hardy, Clare Turnbull, Marc Tischkowitz, Paul Pharoah, Antonis C. Antoniou

“…Background: Second primary cancers (SPCs) after breast cancer (BC) present an increasing public health burden, with little existing research on…”
Get full text

Abstract 7321: Second primary cancer risks following breast cancer in BRCA1/2 pathogenic variant carriers by Allen, Isaac, Hassan, Hend, Walburga, Yvonne, Huntley, Catherine, Loong, Lucy, Rahman, Tameera, Torr, Beth, Bacon, Andrew, Knott, Craig, Jose, Sophie, Vernon, Sally, Lüchtenborg, Margreet, Pethick, Joanna, Santaniello, Francesco, Goel, Shilpi, Allen, Sophie, Lavelle, Katrina, McRonald, Fiona, Eccles, Diana M., Morris, Eva, Hardy, Steven, Turnbull, Clare, Tischkowitz, Marc, Pharoah, Paul, Antoniou, Antonis C.

“…Abstract Background: Second primary cancer (SPC) risk estimates in breast cancer (BC) survivors carrying germline BRCA1/2 pathogenic variants (PVs) remain…”
Get full text

The comprehensive English National Lynch Syndrome Registry: development and description of a new genomics data resourceResearch in context by Catherine Huntley, Lucy Loong, Corinne Mallinson, Rachel Bethell, Tameera Rahman, Neelam Alhaddad, Oliver Tulloch, Xue Zhou, Jason Lee, Paul Eves, Fiona McRonald, Bethany Torr, John Burn, Adam Shaw, Eva J.A. Morris, Kevin Monahan, Steven Hardy, Clare Turnbull, Jacqueline Cook, Ruth Armstrong, Munaza Ahmed, Terri McVeigh, Bianca DeSouza, Anjana Kulkarni, Heirdre Bezuidenhout, Richard Martin, Debbie Holliday, Rachel Hart, Fiona Lalloo, Alan Donaldson, Ruth Cleaver, Catherine Willis, Victoria Kiesel, Marie-Anne O'Reilly, Dorothy Halliday, Joyce Solomons, Kai Ren Ong

“…Background: Lynch Syndrome (LS) is a cancer predisposition syndrome caused by constitutional pathogenic variants in the mismatch repair (MMR) genes. To date,…”
Get full text

The comprehensive English National Lynch Syndrome Registry: development and description of a new genomics data resource by Huntley, Catherine, Loong, Lucy, Mallinson, Corinne, Bethell, Rachel, Rahman, Tameera, Alhaddad, Neelam, Tulloch, Oliver, Zhou, Xue, Lee, Jason, Eves, Paul, 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, McRonald, Fiona, Torr, Bethany, Burn, John, Shaw, Adam, Morris, Eva J.A., Monahan, Kevin, Hardy, Steven, Turnbull, Clare

“…Lynch Syndrome (LS) is a cancer predisposition syndrome caused by constitutional pathogenic variants in the mismatch repair (MMR) genes. To date, fragmentation…”
Get full text