Breast cancer outcomes in women with ovarian cancer and a pathogenic germline BRCA mutation

Authors: Ain, Quratul ^{a, 1}, O'Connell, Rachel L ^{a, b, 1}, Swarnkar, Parinita ^a, McVeigh, Terri ^c, George, Angela ^{c, d}, Tasoulis, Marios K ^{a, b}, Gui, Gerald PH ^a, Wiggins, Jennifer ^c, Khan, Aadil A ^{b, e}, Krupa, Katherine DC ^a, Barry, Peter A ^{a, b}, Banerjee, Susana ^{b, f, 2}, Rusby, Jennifer E ^{a, b, 2, ⁎}

Source: In European Journal of Surgical Oncology March 2025 51(3)

Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)

Authors: Turnbull, C., Garrett, A., Loong, L., Choi, S., Torr, B., Allen, S., Durkie, M., Callaway, A., Drummond, J., Burghel, G.J., Robinson, R., Berry, I.R., Wallace, A.J., Eccles, D.M., Tischkowitz, M., Ellard, S., Hanson, H., Baple, E., Evans, D.G., Woodward, E., Lalloo, F., 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., Rauter, E., Johnston, E., Maher, E., Sofianopoulou, E., Petrides, E., McRonald, F., Pelz, F., Frayling, I., 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., 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., 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., 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., Tadiso, T., Linton-Willoughby, T., Heppell, H., Sahan, K., Worrillow, L., Allen, Z., Watt, C., Hegarty, M., Mitchell, R., Coles, R., Nickless, G., Cojocaru, E., Doal, I., Sava, F., McCarthy, C., Jeeneea, R., Goudie, D., McConachie, M., Botosneanu, S., Kavanaugh, G., Sherlaw, C., Tsoulaki, O., Forde, C., Petley, E., Jones, A.-B., Oprych, K., Pryde, S., Hyder, Z., Elkhateeb, N., Braham, R., Hanington, L., Huntley, C., Irving, R., Sadan, A., Ramos, M., Elliot, C., Wren, D., Lobo, D., McLean, J., May, D., Kearney, L., Campbell, T., Asakura, K., Alwadi, L., O’Shea, R., Gabriel, J., Chiecchio, L., Bowman, P., Sutton, L.A., Walsh, C., Cloke, V., Ucanok, D., Davies, J., Pleasance, B., Maguire, E., Whaite, A., Best, S., Westbury, S., Logan, A., Navarajasegaran, D., Bench, A., Wightman, P., Cartwright, A., Higgs, E., J.Bott, Whitehouse, H., Stevens, J., Martin, D., Dunlop, J., Thomas, S., Sau, C., Farndon, S., Coleman, N., Angelini, P., Massey, H., Rowlands, C., Garcia-Petit, C., Gillespie, K., Alder, A., Middleton, E., Cassidy, C., Orfali, N., Webb, A., Luharia, A., Walker, N., Charlton, J., Andreou, A., Peddie, J., Khan, M., Wilkinson, L., Bezuidenhout, H., Edis, M., Callard, A., Ostrowski, P., Moverley, P., Bean, K., Dunne, A., Moleirinho, A., Waller, S., Cox, K., Greensmith, L., Brittle, A., Gossan, N., Freestone, L., Shak, C., Langford, T., Clinch, Y., Livesey, H., Borland, S., Joshi, A., Wall, K., Whitworth, A., Wilsdon, A., Edgerley, K., Pugh, S., Chrysochoidi, N., Mutch, S., McMullan, C., Johnston, Y., Muraru, M., May, A., Begum, R., Smith, C., Patel, R., Bhatnagar, I., Brown, D., Willan, J., Taylor, S., Jones, K., Ramsden, C., Taiwo, O., Jaudzemaite, J., Sharmin, R., Young, L., O’Dubhshlaine, C., McSorley, L., Rodriguez, I. Abreu, Lillis, S., Alexopoulos, P., Mortensson, E., Kingham, L., Moore, R., Kosicka-Slawinska, M., Aslam, S., Wells, R., Carter, A., Warren, H., Rolf, E., Reed, H., Pearce, L., Lock, D., Ali, F., Kolozi, A., White, N., Wood, D., Hayden, C., Garrett, Alice ^{1, 2}, Allen, Sophie ¹, Durkie, Miranda ³, Burghel, George J. ⁴, Robinson, Rachel ⁵, Callaway, Alison ⁶, Field, Joanne ⁷, Frugtniet, Bethan ², Palmer-Smith, Sheila ⁸, Grant, Jonathan ⁹, Pagan, Judith ¹⁰, McDevitt, Trudi ¹¹, Rowlands, Charlie F. ¹, McVeigh, Terri ¹², Hanson, Helen ^{1, 13, 14}, Turnbull, Clare ^{1, 12, ∗}

Source: In Genetics in Medicine February 2025 27(2)

The comprehensive English National Lynch Syndrome Registry: development and description of a new genomics data resource

Authors: 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, Turnbull, Clare

Source: In eClinicalMedicine March 2024 69

Germline predisposition to haematological malignancies: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene‐CanVar and the NHS England Haematological Oncology Working Group

Authors: Speight, Beverley, Hanson, Helen, Turnbull, Clare, Hardy, Steven, Drummond, James, Khorashad, Jamshid, Wragg, Christopher, Page, Paula, Parkin, Nicholas W., Rio‐Machin, Ana, Fitzgibbon, Jude, Kulasekararaj, Austin Gladston, Hamblin, Angela, Talley, Polly, McVeigh, Terri P., Snape, Katie

Source: British journal of haematology. 201(1):25-34

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100181627789.0x000001&indx=1&recIds=ETOCvdc_100181627789.0x000001

Management of patients with germline predisposition to haematological malignancies considered for allogeneic blood and marrow transplantation: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene‐CanVar, NHS England Genomic Laboratory Hub (GLH) Haematological Malignancies Working Group and the British Society of Blood and Marrow Transplantation and cellular therapy (BSBMTCT)

Authors: Clark, Andrew, Thomas, Sally, Hamblin, Angela, Talley, Polly, Kulasekararaj, Austin, Grinfeld, Jacob, Speight, Beverley, Snape, Katie, McVeigh, Terri P., Snowden, John A.

Source: British journal of haematology. 201(1):35-44

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100181627770.0x000001&indx=1&recIds=ETOCvdc_100181627770.0x000001

Germline ATM Mutations Detected by Somatic DNA Sequencing in Lethal Prostate Cancer

Authors: Grochot, Rafael, Carreira, Suzanne, Miranda, Susana, Figueiredo, Ines, Bertan, Claudia, Rekowski, Jan, Yuan, Wei, Ferreira, Ana, Riisnaes, Ruth, Neeb, Antje, Gurel, Bora, de Los Dolores Fenor de la Maza, Maria, Guo, Christina, Carmichael, Juliet, Westaby, Daniel, Mateo, Joaquin, Sharp, Adam, McVeigh, Terri P., De Bono, Johann

Source: In European Urology Open Science June 2023 52:72-78

A pilot of Blood-First diagnostic cell free DNA (cfDNA) next generation sequencing (NGS) in patients with suspected advanced lung cancer

Authors: Cui, Wanyuan, Milner-Watts, Charlotte, McVeigh, Terri P., Minchom, Anna, Bholse, Jaishree, Davidson, Michael, Yousaf, Nadia, MacMahon, Suzanne, Mugalaasi, Hood, Gunapala, Ranga, Lee, Richard, George, Angela, Popat, Sanjay, O'Brien, Mary

Source: Lung cancer. 165:34-42

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100191886731.0x000001&indx=1&recIds=ETOCvdc_100191886731.0x000001

Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting.

Authors: Varde, Avani, McVeigh, Terri, Cuthill, Vicky, Brady, Angela F., DeSouza, Bianca, Latchford, Andrew, Monahan, Kevin J.

Source: Familial Cancer; Mar2025, Vol. 24 Issue 1, p1-7, 7p

Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD

Authors: Garrett, Alice, Loveday, Chey, King, Laura, Butler, Samantha, Robinson, Rachel, Horton, Carrie, Yussuf, Amal, Choi, Subin, Torr, Beth, Durkie, Miranda, Burghel, George J., Drummond, James, Berry, Ian, Wallace, Andrew, Callaway, Alison, Eccles, Diana, Tischkowitz, Marc, Tatton-Brown, Katrina, Snape, Katie, McVeigh, Terri, Izatt, Louise, Woodward, Emma R., Burnichon, Nelly, Gimenez-Roqueplo, Anne-Paule, Mazzarotto, Francesco, Whiffin, Nicola, Ware, James, Hanson, Helen, Pesaran, Tina, LaDuca, Holly, Buffet, Alexandre, Maher, Eamonn R., Turnbull, Clare

Source: In Genetics in Medicine January 2022 24(1):41-50

A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study

Authors: Adams, Lisa, Adlard, Julian, Alfonso, Rosa, Ali, Saira, Andrew, Angela, Araújo, Luís, Azam, Nazya, Ball, Darran, Barker, Queenstone, Basevitch, Alon, Benton, Barbara, Berlin, Cheryl, Bermingham, Nicola, Biller, Leah, Bloss, Angela, Bradford, Matilda, Bradshaw, Nicola, Branson, Amy, Brendler, Charles, Brennan, Maria, Bulman, Barbara, Burgess, Lucy, Cahill, Declan, Callard, Alice, Calvo Verges, Nuria, Cardoso, Marta, Carter, Vanda, Catanzaro, Mario, Chamberlain, Anthony, Chapman, Cyril, Chong, Michael, Clark, Caroline, Clowes, Virginia, Cogley, Lyn, Cole, Trevor, Compton, Cecilia, Conner, Tom, Cookson, Sandra, Cornford, Philip, Costello, Philandra, Coulier, Laura, Davies, Michaela, Dechet, Christopher, DeSouza, Bianca, Devlin, Gemma, Douglas, Fiona, Douglas, Emma, Dudakia, Darshna, Duncan, Alexis, Ellery, Natalie, Everest, Sarah, Freemantle, Sue, Frydenberg, Mark, Fuller, Debbie, Gabriel, Camila, Gale, Madeline, Garcia, Lynda, Gay, Simona, Genova, Elena, George, Angela, Georgiou, Demetra, Gisbert, Alexandra, Gleeson, Margaret, Glover, Wayne, Gnanapragasam, Vincent, Goff, Sally, Goldgar, David, Gonçalves, Nuno, Goodman, Selina, Gorrie, Jennifer, Gott, Hannah, Grant, Anna, Gray, Catherine, Griffiths, Julie, Gupwell, Karin, Gurasashvili, Jana, Hanslien, Eldbjørg, Haraldsdottir, Sigurdis, Hart, Rachel, Hartigan, Catherine, Hawkes, Lara, Heaton, Tricia, Henderson, Alex, Henrique, Rui, Hilario, Kathrine, Hill, Kathryn, Hulick, Peter, Hunt, Clare, Hutchings, Melanie, Ibitoye, Rita, Inglehearn, Thomas, Ireland, Joanna, Islam, Farah, Ismail, Siti, Jacobs, Chris, James, Denzil, Jenkins, Sharon, Jobson, Irene, Johnstone, Anne, Jones, Oliver, Josefsberg Ben-Yehoshua, Sagi, Kaemba, Beckie, Kaul, Karen, Kemp, Zoe, Kinsella, Netty, Klehm, Margaret, Kockelbergh, Roger, Kohut, Kelly, Kosicka-Slawinska, Monika, Kulkarni, Anjana, Kumar, Pardeep, Lam, Jimmy, LeButt, Mandy, Leibovici, Dan, Lim, Ramona, Limb, Lauren, Lomas, Claire, Longmuir, Mark, López, Consol, Magnani, Tiziana, Maia, Sofia, Maiden, Jessica, Male, Alison, Manalo, Merrie, Martin, Phoebe, McBride, Donna, McGuire, Michael, McMahon, Romayne, McNally, Claire, McVeigh, Terri, Melzer, Ehud, Mencias, Mark, Mercer, Catherine, Mitchell, Gillian, Mora, Josefina, Morton, Catherine, Moss, Cathryn, Murphy, Morgan, Murphy, Declan, Mzazi, Shumi, Nadolski, Maria, Newlin, Anna, Nogueira, Pedro, O'Keefe, Rachael, O'Toole, Karen, O'Connell, Shona, Ogden, Chris, Okoth, Linda, Oliveira, Jorge, Paez, Edgar, Palou, Joan, Park, Linda, Patel, Nafisa, Paulo Souto, João, Pearce, Allison, Peixoto, Ana, Perez, Kimberley, Petelin, Lara, Pichert, Gabriella, Poile, Charlotte, Potter, Alison, Preitner, Nadia, Purnell, Helen, Quinn, Ellen, Radice, Paolo, Rankin, Brigette, Rees, Katie, Renton, Caroline, Richardson, Kate, Risby, Peter, Rogers, Jason, Ruderman, Maggie, Ruiz, April, Sajoo, Anaar, Salvatore, Natale, Sands, Victoria, Sanguedolce, Francesco, Sattar, Ayisha, Saunders, Kathryn, Schofield, Lyn, Scott, Rodney, Searle, Anne, Sehra, Ravinder, Selkirk, Christina, Shackleton, Kylie, Shanley, Sue, Shaw, Adam, Shevrin, Daniel, Shipman, Hannah, Sidat, Zahirah, Siguake, Kas, Simon, Kate, Smyth, Courtney, Snadden, Lesley, Solanky, Nita, Solomons, Joyce, Sorrentino, Margherita, Stayner, Barbara, Stephenson, Robert, Stoffel, Elena, Thomas, Maggie, Thompson, Alan, Tidey, Lizzie, Tischkowitz, Marc, Torokwa, Audrey, Townshend, Sharron, Treherne, Katy, Tricker, Karen, Trinh, Quoc-Dien, Tripathi, Vishakha, Turnbull, Clare, Valdagni, Riccardo, Van As, Nicholas, Venne, Vickie, Verdon, Lizzie, Vitellaro, Marco, Vogel, Kristen, Walker, Lisa, Watford, Amy, Watt, Cathy, Weintroub, Ilana, Weiss, Shelly, Weissman, Scott, Weston, Michelle, Wiggins, Jennifer, Wise, Gillian, Woodhouse, Christopher, Yesildag, Pembe, Youngs, Alice, Yurgelun, Matthew, Zollo, Fabiana, Bancroft, Elizabeth K ^*, Page, Elizabeth C ^*, Brook, Mark N, Thomas, Sarah, Taylor, Natalie, Pope, Jennifer, McHugh, Jana, Jones, Ann-Britt, Karlsson, Questa, Merson, Susan, Ong, Kai Ren, Hoffman, Jonathan, Huber, Camilla, Maehle, Lovise, Grindedal, Eli Marie, Stormorken, Astrid, Evans, D Gareth, Rothwell, Jeanette, Lalloo, Fiona, Brady, Angela F, Bartlett, Marion, Snape, Katie, Hanson, Helen, James, Paul, McKinley, Joanne, Mascarenhas, Lyon, Syngal, Sapna, Ukaegbu, Chinedu, Side, Lucy, Thomas, Tessy, Barwell, Julian, Teixeira, Manuel R, Izatt, Louise, Suri, Mohnish, Macrae, Finlay A, Poplawski, Nicola, Chen-Shtoyerman, Rakefet, Ahmed, Munaza, Musgrave, Hannah, Nicolai, Nicola, Greenhalgh, Lynn, Brewer, Carole, Pachter, Nicholas, Spigelman, Allan D, Azzabi, Ashraf, Helfand, Brian T, Halliday, Dorothy, Buys, Saundra, Ramon y Cajal, Teresa, Donaldson, Alan, Cooney, Kathleen A, Harris, Marion, McGrath, John, Davidson, Rosemarie, Taylor, Amy, Cooke, Peter, Myhill, Kathryn, Hogben, Matthew, Aaronson, Neil K, Ardern-Jones, Audrey, Bangma, Chris H, Castro, Elena, Dearnaley, David, Dias, Alexander, Dudderidge, Tim, Eccles, Diana M, Green, Kate, Eyfjord, Jorunn, Falconer, Alison, Foster, Christopher S, Gronberg, Henrik, Hamdy, Freddie C, Johannsson, Oskar, Khoo, Vincent, Lilja, Hans, Lindeman, Geoffrey J, Lubinski, Jan, Axcrona, Karol, Mikropoulos, Christos, Mitra, Anita V, Moynihan, Clare, Ni Raghallaigh, Holly, Rennert, Gad, Collier, Rebecca, Offman, Judith, Kote-Jarai, Zsofia, Eeles, Rosalind A ^*

Source: In The Lancet Oncology November 2021 22(11):1618-1631

A systematic review and meta‐analysis of telephone vs in‐person genetic counseling in BRCA1/BRCA2 genetic testing

Authors: Bracke, Xavier, Roberts, Jonathan, McVeigh, Terri P.

Source: Journal of genetic counseling. 30(2):563-573

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100119315060.0x000001&indx=1&recIds=ETOCvdc_100119315060.0x000001

Genotes – a 'just-in-time' genomics education resource co-designed with clinicians.

Authors: Frost, Amy, Kelly, Aine, Bishop, Michelle, Bogue, Danielle, Copson, Ellen, Gompertz, Lianne, Hay, Eleanor, Hayward, Jude, Hendriks, Emile, McVeigh, Terri, Simpson, Siobhan, Tatton-Brown, Kate

Source: BMC Medical Education; 11/26/2024, Vol. 24 Issue 1, p1-12, 12p

Subject Terms: SECONDARY care (Medicine), PRIMARY care, DIVERSITY in the workplace, MEDICAL practice, COGNITIVE styles

Company/Entity: GREAT Britain. National Health Service

The PS4- likelihood ratio calculator: flexible allocation of evidence weighting for case- control data in variant classification.

Authors: Rowlands, Charlie F., Garrett, Alice, Allen, Sophie, Durkie, Miranda, Burghel, George J., Robinson, Rachel, Callaway, Alison, Field, Joanne, Frugtniet, Bethan, Smith, Sheila Palmer, Grant, Jonathan, Pagan, Judith, McDevitt, Trudi, McVeigh, Terri P., Hanson, Helen, Whiffin, Nicola, Jones, Michael, Turnbull, Clare

Source: Journal of Medical Genetics; Oct2024, Vol. 61 Issue 10, p983-991, 9p

Using cancer phenotype sex-specificity to enable unbiased penetrance estimation of SMARCA4 pathogenic variants for small cell carcinoma of the ovary, hypercalcemic type (SCCOHT)

Authors: Wade, Isaac ^{1, ∗}, Witkowski, Leora ^{2, 3, ∗}, Ahmed, Afrida ^{2, ∗}, Rowlands, Charlie F. ¹, Banerjee, Susana ⁴, Pressey, Joseph G. ⁵, McVeigh, Terri P. ⁴, Tischkowitz, Marc D. ⁶, Foulkes, William D. ^{2, 3, ∗}, Turnbull, Clare ^{1, 4, ∗}

Source: In Genetics in Medicine January 2025 27(1)

Multidisciplinary interventions in a specialist Drug Development Unit to improve family history documentation and onward referral of patients with advanced cancer to cancer genetics services

Authors: Moss, Cathryn A., Cojocaru, Elena, Hanwell, Janet, Ward, Simon, Xu, Wen, van Zyl, Mary, O'Leary, Lorraine, de Bono, Johann S., Banerji, Udai, Kaye, Stan B., Minchom, Anna, George, Angela J., Lopez, Juanita, McVeigh, Terri P.

Source: In European Journal of Cancer June 2019 114:97-106

Embryonal Rhabdomyosarcoma of the Ovary and Fallopian Tube

Authors: McCluggage, W. Glenn, Apellaniz-Ruiz, Maria, Chong, Anne-Laure, Hanley, Krisztina Z., Velázquez Vega, Jose E., McVeigh, Terri P., Foulkes, William D.

Source: American journal of surgical pathology. 44(6):738-747

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185882869.0x000001&indx=1&recIds=ETOCvdc_100185882869.0x000001

Sleep disordered breathing in children with Down syndrome in the Republic of Ireland

Authors: Diskin, Catherine, McVeigh, Terri P., Cox, Des W.

Source: American journal of medical genetics.Part A. 182(12):2847-2856

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100149827321.0x000001&indx=1&recIds=ETOCvdc_100149827321.0x000001

Carrier testing for partners of MUTYH variant carriers: UK Cancer Genetics Group recommendations.

Authors: McVeigh, Terri Patricia, Lalloo, Fiona, Monahan, Kevin J., Latchford, Andrew, Durkie, Miranda, Mein, Rachael, Baple, Emma L., Hanson, Helen

Source: Journal of Medical Genetics; Aug2024, Vol. 61 Issue 8, p813-816, 4p

Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance.

Authors: Murphy, Jane, Kirk, Claire W., Lambert, Deborah M., McGorrian, Catherine, Walsh, Roddy, McVeigh, Terri P., Prendiville, Terence, Ward, Deirdre, Galvin, Joseph, Lynch, Sally Ann

Source: Irish Journal of Medical Science; Aug2024, Vol. 193 Issue 4, p1775-1785, 11p

Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus.

Authors: McVeigh, Terri Patricia, Monahan, Kevin J., Christopher, Joseph, West, Nick, Scott, Malcolm, Murray, Jennie, Hanson, Helen

Source: Journal of Medical Genetics; Jul2024, Vol. 61 Issue 7, p707-715, 12p