Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

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

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

Publikováno v: Breast and Ovarian Cancer Susceptibility Collaboration, Loveday, C, Law, P, Hanks, S, Poyastro-Pearson, E, Adlard, J W, Barwell, J, Berg, J, Brady, A F, Donaldson, A, Douglas, F, Greenhalgh, L, Izatt, L, Lalloo, F, Miedzybrodzka, Z, Morrison, P J, Porteous, M, Eccles, D, Evans, D G, Snape, K, Houlston, R S, Hanson, H, Turnbull, C, Rogers, M T, Walker, L, Brewer, C, Paterson, J, Kumar, A, Davidson, R, Chapman, C & Cook, J 2022, ' Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes ', Annals of oncology : official journal of the European Society for Medical Oncology, vol. 33, no. 12, pp. 1318-1327 . https://doi.org/10.1016/j.annonc.2022.09.152
Breast and Ovarian Cancer Susceptibility Collaboration, Loveday, C, Garrett, A, Law, P, Hanks, S, Poyastro-Pearson, E, Adlard, J W, Barwell, J, Berg, J, Brady, A F, Brewer, C, Chapman, C, Cook, J, Davidson, R, Donaldson, A, Douglas, F, Greenhalgh, L, Henderson, A, Izatt, L, Kumar, A, Lalloo, F, Miedzybrodzka, Z, Morrison, P J, Paterson, J, Porteous, M, Rogers, M T, Walker, L, Eccles, D, Evans, D G, Snape, K, Hanson, H, Houlston, R S & Turnbull, C 2022, ' Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes ', Annals of oncology : official journal of the European Society for Medical Oncology, vol. 33, no. 12, pp. 1318-1327 . https://doi.org/10.1016/j.annonc.2022.09.152

Background: breast cancer has a significant heritable basis, of which ∼60% remains unexplained. Testing for BRCA1/BRCA2 offers useful discrimination of breast cancer risk within families, and identification of additional breast cancer susceptibilit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6986764441617a144e724063e762ecf
https://research.manchester.ac.uk/en/publications/2e088aaa-ff70-4a90-af9a-d3d781a5a2ad

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

Autor: Lucy Loong, Cankut Cubuk, Subin Choi, Sophie Allen, Beth Torr, Alice Garrett, Chey Loveday, Miranda Durkie, Alison Callaway, George J. Burghel, James Drummond, Rachel Robinson, Ian R. Berry, Andrew Wallace, Diana M. Eccles, Marc Tischkowitz, Sian Ellard, James S. Ware, Helen Hanson, Clare Turnbull, S. Samant, A. 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.-C. Hogg, A. Ramsay Bowden, A. Hadonou, B. Coad, B. McIldowie, B. Speight, B. DeSouza, B. Mullaney, C. McKenna, C. Brewer, C. Olimpio, C. Clabby, C. Crosby, C. Jenkins, C. Armstrong, C. Bowles, C. Brooks, C. Byrne, C. Maurer, D. Baralle, D. Chubb, D. Stobo, D. Moore, D. O'Sullivan, D. Donnelly, D. Randhawa, D. Halliday, E. Atkinson, E. Baple, E. Rauter, E. Johnston, E. Woodward, E. Maher, E. Sofianopoulou, E. Petrides, F. Lalloo, F. McRonald, F. Pelz, I. Frayling, G. Evans, G. Corbett, G. Rea, H. Clouston, H. Powell, H. Williamson, H. Carley, H.J.W. Thomas, I. Tomlinson, J. 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, K. Monahan, K. Tatton-Brown, K.-R. Ong, K. 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, L. 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, K.-L. Greenhalgh, M. Shanmugasundaram, M. Duff, M. Bartlett, M. Watson, M. Owens, M. Bradford, M. Huxley, M. Slean, M. Ryten, M. Smith, M. Ahmed, N. Roberts, C. O'Brien, O. Middleton, P. Tarpey, P. Logan, P. Dean, P. May, P. Brace, R. Tredwell, R. Harrison, R. Hart, R. Kirk, R. Martin, R. Nyanhete, R. Wright, R. Davidson, R. Cleaver, S. Talukdar, S. Butler, J. Sampson, S. 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, T. McVeigh, T. Foo, T. Bedenham, T. Cranston, T. McDevitt, V. Clowes, V. Tripathi, V. McConnell, N. Woodwaer, Y. Wallis, Z. Kemp, G. Mullan, L. Pierson, L. Rainey, C. Joyce, A. Timbs, A.-M. Reuther, B. Frugtniet, C. Husher, C. Lawn, C. Corbett, D. Nocera-Jijon, D. Reay, E. Cross, F. Ryan, H. Lindsay, J. Oliver, J. Dring, J. Spiers, J. Harper, K. Ciucias, L. Connolly, M. Tsang, R. Brown, S. Shepherd, S. Begum, T. Tadiso, T. Linton-Willoughby, H. Heppell, K. Sahan, L. Worrillow, Z. Allen, M. Barlett, C. Watt, M. Hegarty

Publikováno v: Loong, L, Cubuk, C, Choi, S, Allen, S, Torr, B, Garrett, A, Loveday, C, Durkie, M, Callaway, A, Burghel, GJ, Drummond, J, Robinson, R, Berry, IR, Wallace, A & CanVIG-UK 2021, ' Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants. ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 24, no. 3, pp. 552-563 . https://doi.org/10.1016/j.gim.2021.11.011

Purpose: 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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a638418e559b935daf78b3ef4e1f05a
http://hdl.handle.net/10044/1/95227

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.