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)

Autor: 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., C.O’Dubhshlaine, 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, Allen, Sophie, Durkie, Miranda, Burghel, George J., Robinson, Rachel, Callaway, Alison, Field, Joanne, Frugtniet, Bethan, Palmer-Smith, Sheila, Grant, Jonathan, Pagan, Judith, McDevitt, Trudi, Rowlands, Charlie F., McVeigh, Terri, Hanson, Helen, Turnbull, Clare

Publikováno v: In Genetics in Medicine October 2024

Genomic medicine for the 21^st century.

Autor: Rahman, I, Barwell, J

Publikováno v: Annals of the Royal College of Surgeons of England; Apr2024, Vol. 106 Issue 4, p295-299, 5p

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Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

Autor: Qian, F., Wang, S.F., Mitchell, J., McGuffog, L., Barrowdale, D., Leslie, G., Oosterwijk, J.C., Chung, W.K., Evans, D.G., Engel, C., Kast, K., Aalfs, C.M., Adank, M.A., Adlard, J., Agnarsson, B.A., Aittomaki, K., Alducci, E., Andrulis, I.L., Arun, B.K., Ausems, M.G.E.M., Azzollini, J., Barouk-Simonet, E., Barwell, J., Belotti, M., Benitez, J., Berger, A., Borg, A., Bradbury, A.R., Brunet, J., Buys, S.S., Caldes, T., Caligo, M.A., Campbell, I., Caputo, S.M., Chiquette, J., Claes, K.B.M., Collee, J.M., Couch, F.J., Coupier, I., Daly, M.B., Davidson, R., Diez, O., Domchek, S.M., Donaldson, A., Dorfling, C.M., Eeles, R., Feliubadalo, L., Foretova, L., Fowler, J., Friedman, E., Frost, D., Ganz, P.A., Garber, J., Garcia-Barberan, V., Glendon, G., Godwin, A.K., Garcia, E.B.G., Gronwald, J., Hahnen, E., Hamann, U., Henderson, A., Hendricks, C.B., Hopper, J.L., Hulick, P.J., Imyanitov, E.N., Isaacs, C., Izatt, L., Izquierdo, A., Jakubowska, A., Kaczmarek, K., Kang, E., Karlan, B.Y., Kets, C.M., Kim, S.W., Kim, Z., Kwong, A., Laitman, Y., Lasset, C., Lee, M.H., Lee, J.W., Lee, J., Lester, J., Lesueur, F., Loud, J.T., Lubinski, J., Mebirouk, N., Meijers-Heijboer, H.E.J., Meindl, A., Miller, A., Montagna, M., Mooij, T.M., Morrison, P.J., Mouret-Fourme, E., Nathanson, K.L., Neuhausen, S.L., Nevanlinna, H., Niederacher, D., Nielsen, F.C., Nussbaum, R.L., Offit, K., Olah, E., Ong, K.R., Ottini, L., Park, S.K., Peterlongo, P., Pfeiler, G., Phelan, C.M., Poppe, B., Pradhan, N., Radice, P., Ramus, S.J., Rantala, J., Robson, M., Rodriguez, G.C., Schmutzler, R.K., Selkirk, C.G.H., Shah, P.D., Simard, J., Singer, C.F., Sokolowska, J., Stoppa-Lyonnet, D., Sutter, C., Tan, Y.Y., Teixeira, M.R., Teo, S.H., Terry, M.B., Thomassen, M., Tischkowitz, M., Toland, A.E., Tucker, K.M., Tung, N., Asperen, C.J. van, Engelen, K. van, Rensburg, E.J. van, Wang-Gohrke, S., Wappenschmidt, B., Weitzel, J.N., Yannoukakos, D., Greene, M.H., Rookus, M.A., Easton, D.F., Chenevix-Trench, G., Antoniou, A.C., Goldgar, D.E., Olopade, O.I., Rebbeck, T.R., Huo, D.Z., GEMO Study Collaborators, HEBON, EMBRACE

Publikováno v: Qian, F, Wang, S, Mitchell, J, McGuffog, L, Barrowdale, D, Leslie, G, Oosterwijk, J C, Chung, W K, Evans, D G, Engel, C, Kast, K, Aalfs, C M, Adank, M A, Adlard, J, Agnarsson, B A, Aittomäki, K, Alducci, E, Andrulis, I L, Arun, B K, Ausems, M G E M, Azzollini, J, Barouk-Simonet, E, Barwell, J, Belotti, M, Benitez, J, Berger, A, Borg, A, Bradbury, A R, Brunet, J, Buys, S S, Caldes, T, Caligo, M A, Campbell, I, Caputo, S M, Chiquette, J, Claes, K B M, Margriet Collée, J, Couch, F J, Coupier, I, Daly, M B, Davidson, R, Diez, O, Domchek, S M, Donaldson, A, Dorfling, C M, Eeles, R, Feliubadaló, L, Foretova, L, Fowler, J, Friedman, E, Thomassen, M & GEMO Study Collaborators 2019, ' Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers : A Mendelian Randomization Study ', National Cancer Institute. Journal
, vol. 111, no. 4, pp. 350-364 . https://doi.org/10.1093/jnci/djy132
Journal of the National Cancer Institute, 111(4):djy132, 350-364. Oxford University Press
JNCI: Journal of the National Cancer Institute, 111(4), 350-364. OXFORD UNIV PRESS INC
JOURNAL OF THE NATIONAL CANCER INSTITUTE, 111(4):132, 350-364. Oxford University Press
Journal of the National Cancer Institute, 111(4), 350. Oxford University Press
Journal of the National Cancer Institute, 111, 350-364
Qian, F, Wang, S, Mitchell, J, McGuffog, L, Barrowdale, D, Leslie, G, Oosterwijk, J C, Chung, W K, Evans, D G, Engel, C, Kast, K, Aalfs, C M, Adank, M A, Adlard, J, Agnarsson, B A, Aittomäki, K, Alducci, E, Andrulis, I L, Arun, B K, Ausems, M G E M, Azzollini, J, Barouk-Simonet, E, Barwell, J, Belotti, M, Benitez, J, Berger, A, Borg, A, Bradbury, A R, Brunet, J, Buys, S S, Caldes, T, Caligo, M A, Campbell, I, Caputo, S M, Chiquette, J, Claes, K B M, Margriet Collée, J, Couch, F J, Coupier, I, Daly, M B, Davidson, R, Diez, O, Domchek, S M, Donaldson, A, Dorfling, C M, Eeles, R, Feliubadaló, L, Foretova, L, Meijers-Heijboer, H E J, van Engelen, K, HEBON, EMBRACE, GEMO Study Collaborators, Greene, M H, Antoniou, A C, Goldgar, D E, Olopade, O I, Rebbeck, T R & Huo, D 2019, ' Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study ', Journal of the National Cancer Institute, vol. 111, no. 4, pp. 350-364 . https://doi.org/10.1093/jnci/djy132
Journal of the National Cancer Institute, 111(4):132, 350-364. Oxford University Press
Qian, F, Wang, S, Mitchell, J, Mcguffog, L, Barrowdale, D, Leslie, G, Oosterwijk, J C, Chung, W K, Evans, D G, Engel, C, Kast, K, Aalfs, C M, Adank, M A, Adlard, J, Agnarsson, B A, Aittomäki, K, Alducci, E, Andrulis, I L, Arun, B K, Ausems, M G E M, Azzollini, J, Barouk-simonet, E, Barwell, J, Belotti, M, Benitez, J, Berger, A, Borg, A, Bradbury, A R, Brunet, J, Buys, S S, Caldes, T, Caligo, M A, Campbell, I, Caputo, S M, Chiquette, J, Claes, K B M, Margriet Collée, J, Couch, F J, Coupier, I, Daly, M B, Davidson, R, Diez, O, Domchek, S M, Donaldson, A, Dorfling, C M, Eeles, R, Feliubadaló, L, Foretova, L, Fowler, J, Friedman, E, Frost, D, Ganz, P A, Garber, J, Garcia-barberan, V, Glendon, G, Godwin, A K, Gómez Garcia, E B, Gronwald, J, Hahnen, E, Hamann, U, Henderson, A, Hendricks, C B, Hopper, J L, Hulick, P J, Imyanitov, E N, Isaacs, C, Izatt, L, Izquierdo, Á, Jakubowska, A, Kaczmarek, K, Kang, E, Karlan, B Y, Kets, C M, Kim, S, Kim, Z, Kwong, A, Laitman, Y, Lasset, C, Hyuk Lee, M, Won Lee, J, Lee, J, Lester, J, Lesueur, F, Loud, J T, Lubinski, J, Mebirouk, N, Meijers-heijboer, H E J, Meindl, A, Miller, A, Montagna, M, Mooij, T M, Morrison, P J, Mouret-fourme, E, Nathanson, K L, Neuhausen, S L, Nevanlinna, H, Niederacher, D, Nielsen, F C, Nussbaum, R L, Offit, K, Olah, E, Ong, K, Ottini, L, Park, S K, Peterlongo, P, Pfeiler, G, Phelan, C M, Poppe, B, Pradhan, N, Radice, P, Ramus, S J, Rantala, J, Robson, M, Rodriguez, G C, Schmutzler, R K, Hutten Selkirk, C G, Shah, P D, Simard, J, Singer, C F, Sokolowska, J, Stoppa-lyonnet, D, Sutter, C, Yen Tan, Y, Teixeira, R M, Teo, S H, Terry, M B, Mads, T, Marc, T, Amanda, E T, Katherine, M T, Nadine, T, Van Asperen, C J, Van Engelen, K, Van Rensburg, E J, Wang-gohrke, S, Wappenschmidt, B, Weitzel, J N, Yannoukakos, D, Greene, M H, Rookus, M A, Easton, D F, Chenevix-trench, G, Antoniou, A C, Goldgar, D E, Olopade, O I, Rebbeck, T R & Huo, D 2019, ' Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study ', Journal of the National Cancer Institute, vol. 111, no. 4, pp. 350-364 . https://doi.org/10.1093/jnci/djy132
Qian, F; Wang, S; Mitchell, J; McGuffog, L; Barrowdale, D; Leslie, G; et al.(2018). Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.. Journal of the National Cancer Institute. doi: 10.1093/jnci/djy132. UCLA: Retrieved from: http://www.escholarship.org/uc/item/8d25027s
Journal of the National Cancer Institute, 111, 4, pp. 350-364
Journal of the National Cancer Institute, 111(4), 350-364. Oxford University Press

Contains fulltext : 206539.pdf (Publisher’s version ) (Closed access) BACKGROUND: BRCA1/2 mutations confer high lifetime risk of breast cancer, although other factors may modify this risk. Whether height or body mass index (BMI) modifies breast can

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