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)

Population-based germline breast cancer gene association studies and meta-analysis to inform wider mainstream testing

Authors: Rowlands, C.F., Allen, S., Balmaña, J., Domchek, S.M., Evans, D.G., Hanson, H., Hoogerbrugge, N., James, P.A., Nathanson, K.L., Robson, M., Tischkowitz, M., Foulkes, W.D., Turnbull, C.

Source: In Annals of Oncology October 2024 35(10):892-901

Comparison of a Standard Resolution PET-CT Scanner With an HRRT Brain Scanner for Imaging Small Tumors Within the Head

Authors: Anton-Rodriguez, J.M., Julyan, P., Djoukhadar, I., Russell, D., Evans, D.G., Jackson, A., Matthews, J.C.

Source: IEEE Transactions on Radiation and Plasma Medical Sciences IEEE Trans. Radiat. Plasma Med. Sci. Radiation and Plasma Medical Sciences, IEEE Transactions on. 3(4):434-443 Jul, 2019

Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline

Authors: Sessa, C., Balmaña, J., Bober, S.L., Cardoso, M.J., Colombo, N., Curigliano, G., Domchek, S.M., Evans, D.G., Fischerova, D., Harbeck, N., Kuhl, C., Lemley, B., Levy-Lahad, E., Lambertini, M., Ledermann, J.A., Loibl, S., Phillips, K.-A., Paluch-Shimon, S.

Source: In Annals of Oncology January 2023 34(1):33-47

Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes

Authors: Ardern-Jones, A., Adlard, J., Ahmed, M., Attard, G., Bailey, K., Bancroft, E., Bardsley, C., Barton, D., Bartlett, M., Barwell, J., Baxter, L., Belk, R., Berg, J., Bernhard, B., Bishop, T., Boyes, L., Bradshaw, N., Brady, A.F., Brant, S., Brewer, C., Brice, G., Bromilow, G., Brooks, C., Bruce, A., Bulman, B., Burgess, L., Campbell, J., Canham, N., Castle, B., Cetnarskyj, R., Chapman, C., Claber, O., Coates, N., Cole, T., Collins, A., Cook, J., Coulson, S., Crawford, G., Cruger, D., Cummings, C., D’Mello, L., Davidson, R., Day, L., Dell, B., Dolling, C., Donaldson, A., Dorkins, H., Douglas, F., Downing, S., Drummond, S., Dubras, C., Dunlop, J., Durrell, S., Eccles, D., Eddy, C., Edwards, M., Edwards, E., Edwardson, J., Eeles, R., Ellis, I., Elmslie, F., Evans, G., Gibbons, B., Gardiner, C., Ghali, N., Giblin, C., Gibson, S., Goff, S., Goodman, S., Goudie, D., Greenhalgh, L., Grier, J., Gregory, H., Halliday, S., Hardy, R., Hartigan, C., Heaton, T., Henderson, A., Higgins, C., Hodgson, S., Homfray, T., Horrigan, D., Houghton, C., Houlston, R.S., Hughes, L., Hunt, V., Irvine, L., Izatt, L., Jacobs, C., James, S., James, M., Jeffers, L., Jobson, I., Jones, W., Kennedy, M.J., Kenwrick, S., Kightley, C., Kirk, C., Kirk, E., Kivuva, E., Kohut, K., Kosicka-Slawinska, M., Kulkarni, A., Kumar, A., Lalloo, F., Lambord, N., Langman, C., Leonard, P., Levene, S., Locker, S., Logan, P., Longmuir, M., Lucassen, A., Lyus, V., Magee, A., Male, A., Mansour, S., McBride, D., McCann, E., McConnell, V., McEntagart, M., McKeown, C., McLeish, L., McLeod, D., Melville, A., Mercer, L., Mercer, C., Miedzybrodzka, Z., Mitra, A., Morrison, P.J., Murday, V., Murray, A., Myhill, K., Myring, J., O'Hara, E., Paterson, J., Pearson, P., Pichert, G., Platt, K., Porteous, M., Pottinger, C., Price, S., Protheroe, L., Pugh, S., Quarrell, O., Randhawa, K., Riddick, C., Robertson, L., Robinson, A., Roffey-Johnson, V., Rogers, M., Rose, S., Rowe, S., Schofield, A., Rahman, N., Saya, S., Scott, G., Scott, J., Searle, A., Shanley, S., Sharif, S., Shaw, A., Shaw, J., Shea-Simonds, J., Side, L., Sillibourne, J., Simon, K., Simpson, S., Slater, S., Smalley, S., Smith, K., Snadden, L., Snape, K., Soloway, J., Stait, Y., Stayner, B., Steel, M., Steel, C., Stewart, H., Stirling, D., Thomas, M., Thomas, S., Tomkins, S., Turner, H., Vandersteen, A., Wakeling, E., Waldrup, F., Walker, L., Watt, C., Watts, S., Webber, A., Whyte, C., Wiggins, J., Williams, E., Winchester, L., Loveday, C., Garrett, A., Law, P., Hanks, S., Poyastro-Pearson, E., Adlard, J.W., Rogers, M.T., Evans, D.G., Hanson, H., Turnbull, C.

Source: In Annals of Oncology December 2022 33(12):1318-1327

Patient reported outcome measures in a cohort of patients at high risk of breast cancer treated by bilateral risk reducing mastectomy and breast reconstruction

Authors: Gandhi, A., Duxbury, P., Murphy, J., Foden, P., Lalloo, F., Clancy, T., Wisely, J., Kirwan, CC, Howell, A., Evans, D.G.

Source: Journal of plastic, reconstructive & aesthetic surgery. 75(1):69-76

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100154742244.0x000001&indx=1&recIds=ETOCvdc_100154742244.0x000001

Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

Authors: Seppälä, Toni T., Dominguez-Valentin, Mev, Crosbie, Emma J., Engel, Christoph, Aretz, Stefan, Macrae, Finlay, Winship, Ingrid, Capella, Gabriel, Thomas, Huw, Hovig, Eivind, Nielsen, Maartje, Sijmons, Rolf H., Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria G., Cavestro, Giulia M., Mints, Miriam, Gluck, Nathan, Katz, Lior, Heinimann, Karl, Vaccaro, Carlos A., Green, Kate, Lalloo, Fiona, Hill, James, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Strauß, Hans-Georg, Tecklenburg, Johanna, Holinski-Feder, Elke, Steinke-Lange, Verena, Mecklin, Jukka-Pekka, Plazzer, John-Paul, Pineda, Marta, Navarro, Matilde, Vida, Joan B., Kariv, Revital, Rosner, Guy, Piñero, Tamara A., Pavicic, Walter, Kalfayan, Pablo, ten Broeke, Sanne W., Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Burn, John, Greenblatt, Marc, de Vos tot Nederveen Cappel, Wouter H., Della Valle, Adriana, Lopez-Koestner, Francisco, Alvarez, Karin, Büttner, Reinhard, Görgens, Heike, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, von Knebel Doeberitz, Magnus, Loeffler, Markus, Redler, Silke, Weitz, Jürgen, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Hopper, John L., Win, Aung K., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Therkildsen, Christina, Wadt, Karin A.W., Mourits, Marian J.E., Ketabi, Zohreh, Denton, Oliver G., Rødland, Einar A., Vasen, Hans, Neffa, Florencia, Esperon, Patricia, Tjandra, Douglas, Möslein, Gabriela, Rokkones, Erik, Sampson, Julian R., Evans, D.G., Møller, Pål

Source: In European Journal of Cancer May 2021 148:124-133

Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts

Authors: Dunnett-Kane, V., Burkitt-Wright, E., Blackhall, F.H., Malliri, A., Evans, D.G., Lindsay, C.R.

Source: In Annals of Oncology July 2020 31(7):873-883

An integrated approach to engineering computer systems

Authors: Morris, D., Evans, D.G., Green, P.N.

Source: Proceedings EURO-DAC '96. European Design Automation Conference with EURO-VHDL '96 and Exhibition European design automation. EURO-VHDL Design Automation Conference, 1996, with EURO-VHDL '96 and Exhibition, Proceedings EURO-DAC '96, European. :264-269 1996

Relation: Proceedings EURO-DAC '96. European Design Automation Conference with EURO-VHDL '96 and Exhibition

Producing preferred format Material From microsoft word

Authors: Evans, D.G., Blenkhorn, P.

Source: IEEE Transactions on Neural Systems and Rehabilitation Engineering IEEE Trans. Neural Syst. Rehabil. Eng. Neural Systems and Rehabilitation Engineering, IEEE Transactions on. 12(3):325-330 Sep, 2004

An investigation into formatting and layout errors produced by blind word-processor users and an evaluation of prototype error prevention and correction techniques

Authors: Evans, D.G., Diggle, T., Kurniawan, S.H., Blenkhorn, P.

Source: IEEE Transactions on Neural Systems and Rehabilitation Engineering IEEE Trans. Neural Syst. Rehabil. Eng. Neural Systems and Rehabilitation Engineering, IEEE Transactions on. 11(3):257-268 Sep, 2003

Full-screen magnification for windows using DirectX overlays

Authors: Blenkhorn, P., Evans, D.G., Baude, A.

Source: IEEE Transactions on Neural Systems and Rehabilitation Engineering IEEE Trans. Neural Syst. Rehabil. Eng. Neural Systems and Rehabilitation Engineering, IEEE Transactions on. 10(4):225-231 Dec, 2002

The proportion of endometrial cancers associated with Lynch syndrome: a systematic review of the literature and meta-analysis

Authors: Ryan, N.A.J., Glaire, M.A., Blake, D., Cabrera-Dandy, M., Evans, D.G., Crosbie, E.J.

Source: In Genetics in Medicine October 2019 21(10):2167-2180

Controlling mouse pointer position using an infrared head-operated joystick

Authors: Evans, D.G., Drew, R., Blenkhorn, P.

Source: IEEE Transactions on Rehabilitation Engineering IEEE Trans. Rehab. Eng. Rehabilitation Engineering, IEEE Transactions on. 8(1):107-117 Mar, 2000

Neurofibromatosis type 2 service delivery in England

Alternate Title: Organisation de la prise en charge de la neurofibromatose de type 2 en Angleterre (French)

Authors: Lloyd, S.K., Evans, D.G.

Source: In Neurochirurgie November 2018 64(5):375-380

A modified Perkins Brailler for text entry into windows applications

Authors: Evans, D.G., Pettitt, S., Blenkhorn, P.

Source: IEEE Transactions on Neural Systems and Rehabilitation Engineering IEEE Trans. Neural Syst. Rehabil. Eng. Neural Systems and Rehabilitation Engineering, IEEE Transactions on. 10(3):204-206 Sep, 2002

A system for enabling blind people to identify landmarks: the sound buoy

Authors: Blenkhorn, P., Evans, D.G.

Source: IEEE Transactions on Rehabilitation Engineering IEEE Trans. Rehab. Eng. Rehabilitation Engineering, IEEE Transactions on. 5(3):276-278 Sep, 1997

Pathological features and clinical behavior of Lynch syndrome-associated ovarian cancer

Authors: Ryan, N.A.J., Evans, D.G., Green, K., Crosbie, E.J.

Source: In Gynecologic Oncology March 2017 144(3):491-495

False-negative MRI breast screening in high-risk women

Authors: Maxwell, A.J., Lim, Y.Y., Hurley, E., Evans, D.G., Howell, A., Gadde, S.

Source: In Clinical Radiology March 2017 72(3):207-216

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

Authors: Evans, D.G., Bowers, N., Burkitt-Wright, E., Miles, E., Garg, S., Scott-Kitching, V., Penman-Splitt, M., Dobbie, A., Howard, E., Ealing, J., Vassalo, G., Wallace, A.J., Newman, W., Huson, S.M.

Source: In EBioMedicine May 2016 7:212-220