78 results on '"Whitmore I"'
Search Results
2. Poster presentation
- Author
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Duparc, F., Noyon, M., Ozeel, J., Gerometta, A., Michot, C., Tadjalli, M., Moslemy, H., Safaei, S., Heiman, A., Wish-Baratz, S., Melnikov, T., Smoliar, E., Hakan, A. Y., Yucel, F., Kachlík, D. K., Pešl, M. P., Báča, V. B., Stingl, J. S., Kachlík, K. D., Čech, Č. P., Báča, B. V., Mompeó, B., Marrero-Rodriguez, A., Zeybek, A., Sağlam, B., Çikler, E., Çetinel, Ş., Ercan, F., Şener, G., Kawawa, Y., Kohda, E., Tatsuya, T., Moroi, M., Kunimasa, T., Nagamoto, M., Terada, H., Labuschagne, B. C. J., van der Krieke, T. J., Hoogland, P. V., Muller, C. J. F., Lyners, R., Vorster, W., Matusz, P., Zaboi, D. E., Xu, S. C., Tu, L. L., Wang, Q., Zhang, M., Han, H., Tao, W., Jiao, Y., Pang, G., Aydin, M. E., Kopuz, C., Demir, M. T., Yildirim, M., Kale, A., Ince, Y., Khamanarong, K., Jeeravipoolvarn, P., Chaijaroonkhanarak, W., Gawgleun, W., Fujino, T., Uz, A., Apaydin, N., Bozkurt, M., Elhan, A., Sheibani, M. T., Adibmoradi, M., Jahovic, N., Alican, I., Erkanli, G., Arbak, S., Karakaş, S., Taşer, F., Güneş, H., Yildiz, Y., Yazici, Y., Aland, R. C., Kippers, V., Song, W. C., Park, S. H., Shin, C., Koh, K. S., Russo, G., Pomara, F., Veca, M., Cacciola, F., Martorana, U., Gravante, G., Tobenas-Dujardin, A. C., Laquerrière, A., Muller, J. M., Fréger, P., López-Serna, N., Álvarez-González, E., Torres-Gonzàlez, V., Laredo-López, G., Esparza-González, G. V., Álvarez-Cantú, R., Garza-González, C. E., Guzmán-López, S., Aldur, M. M., Çelik, H. H., Sürücü, S., Denk, C., Yang, H. J., Gil, Y. C., Kim, T. J., Lee, H. Y., Lee, W. J., Lee, H., Hu, K. S., Akita, K., Kim, H. J., Jung, H. S., Gurbuz, H., Balik, S., Wavreille, G., Chantelot, C., Demondion, X., Fontaine, C., Çavdar, S., Yalin, A., Saka, E., Özdoǧmuş, Ö., Çakmak, Ö., Elevli, L., Saǧlam, B., Coquerel-Beghin, D., Milliez, P. Y., Lemierre, G., Oktem, G., Vatansever, S., Ayla, S., Uysal, A., Aktas, S., Karabulut, B., Bilir, A., Uslu, S., Aktug, H., Yurtseven, M. E., Celik, H. H., Tatar, I., Surucu, S., Karaduman, A., Tunali, S., Neuhüttler, S., Kröll, A., Moriggl, B., Brenner, E., Loukas, M., Arora, S., Louis, Jr, R. G., Fogg, Q. A., Wagner, T., Tedman, R. A., Ching, H. Y., Eze, N., Bottrill, I. D., Blyth, P., Faull, R. L. M., Vuletic, J., Elizondo-Omaña, R. E., Rodríguez, M. A. García, López, S. Guzmán, de la Garza, O. Tijerina, Liu, Y. H., Zhang, K. L., Lu, D. H., Kwak, H. H., Park, H. D., Youn, K. H., Kang, H. J., Kang, H. C., Han, S. H., Ikiz, Z. A. Aktan, Ucerler, H., Uygur, M., Kutoglu, T., Dina, C., Iliescu, D., Şapte, E., Bordei, P., Lekšan, I., Marcikić, M., Radić, R., Nikolić, V., Kurbel, S., Selthofer, R., Báča, V., Doubková, A., Kachlík, D., Stingl, J., Džupa, V., Grill, R., Nam, Y. S., Paik, D. J., Shin, C. S., Kim, S. J., Kim, D. G., Jin, C. S., Kim, D. I., Lee, U. Y., Kwak, D. S., Lee, J. H., Han, C. H., Carpino, A., Rago, V., Romeo, F., Carani, C., Andò, S., Arican, R. Y., Coskun, N., Sarikcioglu, L., Sindel, M., Arican, Y. R., Altun, U., Ozsoy, U., Oguz, N., Yildirim, F. B., Nakajima, K., Duygulu, E., Aydin, H., Gurer, E. Inanc, Ozkan, O., Tuzuner, S., Özsoy, U., Çubukçu, S., Demirel, B. M., Akkin, S. M., Marur, T., Weiglein, A. H., Maghiar, T. T., Borza, C., Bumbu, A., Bumbu, G., Polle, G., Auquit-Auckbur, I., Dujardin, F., Biga, N., Olivier, E., Defives, T., Ghazali, S., Anastasi, G., Rizzo, G., Favaloro, A., Miliardi, D., Giacobbe, O., Santoro, G., Trimarchi, F., Cutroneo, G., Govsa, F., Bilge, O., Ozer, M. A., Erdogmus, S., Grizzi, F., Pelillo, F., Mori, M., Franceschini, B., Portinaro, N., Godlewski, G., Viala, M., Rouanet, J. P., Prat, D., Rahmé, Z. S., Prudhomme, M., Eken, E., Kwiatkowska, M., Liegmann, J., Chmielewski, R., Grimmond, J., Kwiatkowski, M., Schintler, M. V., Windisch, G., Wittgruber, G., Prandl, E. C., Prodinger, P., Anderhuber, F., Scharnagl, E., Gerbino, A., Buscemi, M., Leone, A., Mandracchia, R., Peri, G., Lipari, D., Farina-Lipari, E., Valentino, B., D’Arpa, S., Cordova, A., Bucchieri, F., Ribbene, A., David, S., Palma, A., Davies, D. E., Haitchi, H. M., Holgate, S. T., La Rocca, G., Anzalone, R., Campanella, C., Rappa, F., Bartolotta, T., Cappello, F., Bellafiore, M., Sivverini, G., Palumbo, D., Macaluso, F., Farina, F., Di Felice, V., Montalbano, A., Ardizzone, N., Marcianò, V., Zummo, G., Tanyeli, E., Üzel, M., Carini, F., Scardina, G. A., Varia, P., Valenza, V., Messina, P., Meiring, J. H., Schumann, C., Whitmore, I., Greyling, L. M., Hamel, O., Hamel, A., Robert, R., Garçon, M., Lagier, S., Blin, Y., Armstrong, O., Rogez, J. M., Le Borgne, J., Ifrim, C. Feng, Maghiar, A., Botea, M., Ifrim, M., Pop, O., Sandor, M., Behdadipour, Z., Saberi, M., Esfandiary, E., Gentile, C., Marconi, A., Livrea, M. A., Uzan, G., D’Alessio, P., Ridola, C. G., Grassi, N., Pantuso, G., Bottino, A., Cacace, E., Li Petri, S., Di Gaudio, F., Guercio, G., Latteri, M. A., Nobile, D., Cipolla, C., Caruso, G., Salvaggio, G., Lo Cascio, A., Fatta, G., Lagalla, R., Campisi, A., Verderame, F., Martegani, A., Cardinale, A. E., and Luedinghausen, M. V.
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- 2005
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3. Upper limb
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GOSLING, J.A., primary, HARRIS, P.F., additional, HUMPHERSON, J.R., additional, WHITMORE, I., additional, and WILLAN, P.L.T., additional
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- 2008
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4. Head and neck
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GOSLING, J.A., primary, HARRIS, P.F., additional, HUMPHERSON, J.R., additional, WHITMORE, I., additional, and WILLAN, P.L.T., additional
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- 2008
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5. Basic anatomical concepts
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GOSLING, J.A., primary, HARRIS, P.F., additional, HUMPHERSON, J.R., additional, WHITMORE, I., additional, and WILLAN, P.L.T., additional
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- 2008
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6. Lower limb
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GOSLING, J.A., primary, HARRIS, P.F., additional, HUMPHERSON, J.R., additional, WHITMORE, I., additional, and WILLAN, P.L.T., additional
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- 2008
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7. Abdomen
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GOSLING, J.A., primary, HARRIS, P.F., additional, HUMPHERSON, J.R., additional, WHITMORE, I., additional, and WILLAN, P.L.T., additional
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- 2008
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8. Thorax
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GOSLING, J.A., primary, HARRIS, P.F., additional, HUMPHERSON, J.R., additional, WHITMORE, I., additional, and WILLAN, P.L.T., additional
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- 2008
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9. Pelvis and perineum
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GOSLING, J.A., primary, HARRIS, P.F., additional, HUMPHERSON, J.R., additional, WHITMORE, I., additional, and WILLAN, P.L.T., additional
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- 2008
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10. Back
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GOSLING, J.A., primary, HARRIS, P.F., additional, HUMPHERSON, J.R., additional, WHITMORE, I., additional, and WILLAN, P.L.T., additional
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- 2008
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11. The structure an innervation of mammalian oesophageal striated muscle
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Whitmore, I. V.
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612 ,Physiology - Published
- 1980
12. Erratum to: Germline variation at 8q24 and prostate cancer risk in men of European ancestry (Nature Communications, (2018), 9, 1, (4616), 10.1038/s41467-018-06863-1)
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Matejcic, M, Saunders, EJ, Dadaev, T, Brook, MN, Wang, K, Sheng, X, Olama, AAA, Schumacher, FR, Ingles, SA, Govindasami, K, Benlloch, S, Berndt, SI, Albanes, D, Koutros, S, Muir, K, Stevens, VL, Gapstur, SM, Tangen, CM, Batra, J, Clements, J, Gronberg, H, Pashayan, N, Schleutker, J, Wolk, A, West, C, Mucci, L, Kraft, P, Cancel-Tassin, G, Sorensen, KD, Maehle, L, Grindedal, EM, Strom, SS, Neal, DE, Hamdy, FC, Donovan, JL, Travis, RC, Hamilton, RJ, Rosenstein, B, Lu, YJ, Giles, GG, Kibel, AS, Vega, A, Bensen, JT, Kogevinas, M, Penney, KL, Park, JY, Stanford, JL, Cybulski, C, Nordestgaard, BG, Brenner, H, Maier, C, Kim, J, Teixeira, MR, Neuhausen, SL, De Ruyck, K, Razack, A, Newcomb, LF, Lessel, D, Kaneva, R, Usmani, N, Claessens, F, Townsend, PA, Gago-Dominguez, M, Roobol, MJ, Menegaux, F, Khaw, KT, Cannon-Albright, LA, Pandha, H, Thibodeau, SN, Schaid, DJ, Henderson, BE, Stern, MC, Thwaites, A, Guy, M, Whitmore, I, Morgan, A, Fisher, C, Hazel, S, Livni, N, Cook, M, Fachal, L, Weinstein, S, Beane Freeman, LE, Hoover, RN, Machiela, MJ, Lophatananon, A, Carter, BD, Goodman, P, Moya, L, Srinivasan, S, Kedda, MA, Yeadon, T, Eckert, A, Eklund, M, Cavalli-Bjoerkman, C, Dunning, AM, Sipeky, C, Hakansson, N, Elliott, R, and Ranu, H
- Abstract
© 2019, The Author(s). The original version of this Article contained an error in the spelling of the author Manuela Gago-Dominguez, which was incorrectly given as Manuela G. Dominguez. This has now been corrected in both the PDF and HTML versions of the Article.
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- 2019
13. Germline DNA repair gene mutations in young-onset prostate cancer cases in the UK: evidence for a more extensive genetic panel
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Leongamornlert, D, Saunders, E, Wakerell, S, Whitmore, I, Dadaev, T, Cieza-Borrella, C, Benafif, S, Brook, M, Donovan, J, Hamdy, F, Neal, D, Muir, K, Govindasami, K, Conti, D, Kote-Jarai, Z, and Eeles, R
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Adult ,Male ,DNA Repair ,Genotype ,DNA Mutational Analysis ,Article ,Aggressive phenotype ,Humans ,Genetic Predisposition to Disease ,Genetic Testing ,Gene panel testing ,Germ-Line Mutation ,Aged ,Prostate cancer ,DNA repair genes ,Genetic predisposition ,Prostatic Neoplasms ,DNA, Neoplasm ,Middle Aged ,Prognosis ,United Kingdom ,Editorial Commentary ,Centre for Surgical Research ,Female ,Morbidity ,Neoplasm Grading - Abstract
Background Rare germline mutations in DNA repair genes are associated with prostate cancer (PCa) predisposition and prognosis. Objective To quantify the frequency of germline DNA repair gene mutations in UK PCa cases and controls, in order to more comprehensively evaluate the contribution of individual genes to overall PCa risk and likelihood of aggressive disease. Design, setting, and participants We sequenced 167 DNA repair and eight PCa candidate genes in a UK-based cohort of 1281 young-onset PCa cases (diagnosed at ≤60 yr) and 1160 selected controls. Outcome measurements and statistical analysis Gene-level SKAT-O and gene-set adaptive combination of p values (ADA) analyses were performed separately for cases versus controls, and aggressive (Gleason score ≥8, n = 201) versus nonaggressive (Gleason score ≤7, n = 1048) cases. Results and limitations We identified 233 unique protein truncating variants (PTVs) with minor allele frequency, Take Home Message This large sequencing study assessed the rate of inherited DNA repair gene mutations in prostate cancer (PCa) patients and in disease-free men. A total of 23 genes were found to be associated with PCa predisposition or the risk of aggressive disease. These findings have predictive and prognostic potential.
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- 2019
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14. Germline variation at 8q24 and prostate cancer risk in men of European ancestry (vol 9, 4616, 2018)
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Matejcic, M, Saunders, EJ, Dadaev, T, Brook, MN, Wang, K, Sheng, X, Al Olama, AA, Schumacher, FR, Ingles, SA, Govindasami, K, Benlloch, S, Berndt, SI, Albanes, D, Koutros, S, Muir, K, Stevens, VL, Gapstur, SM, Tangen, CM, Batra, J, Clements, J, Gronberg, H, Pashayan, N, Schleutker, J, Wolk, A, West, C, Mucci, L, Kraft, P, Cancel-Tassin, G, Sorensen, KD, Maehle, L, Grindedal, EM, Strom, SS, Neal, DE, Hamdy, FC, Donovan, JL, Travis, RC, Hamilton, RJ, Rosenstein, B, Lu, Y-J, Giles, GG, Kibel, AS, Vega, A, Bensen, JT, Kogevinas, M, Penney, KL, Park, JY, Stanford, JL, Cybulski, C, Nordestgaard, BG, Brenner, H, Maier, C, Kim, J, Teixeira, MR, Neuhausen, SL, De Ruyck, K, Razack, A, Newcomb, LF, Lessel, D, Kaneva, R, Usmani, N, Claessens, F, Townsend, PA, Gago-Dominguez, M, Roobol, MJ, Menegaux, F, Khaw, K-T, Cannon-Albright, LA, Pandha, H, Thibodeau, SN, Schaid, DJ, Wiklund, F, Chanock, SJ, Easton, DF, Eeles, RA, Kote-Jarai, Z, Conti, DV, Haiman, CA, Henderson, BE, Stern, MC, Thwaites, A, Guy, M, Whitmore, I, Morgan, A, Fisher, C, Hazel, S, Livni, N, Cook, M, Fachal, L, Weinstein, S, Freeman, LEB, Hoover, RN, Machiela, MJ, Lophatananon, A, Carter, BD, Goodman, P, Moya, L, Srinivasan, S, Kedda, M-A, Yeadon, T, Eckert, A, Eklund, M, Cavalli-Bjoerkman, C, Dunning, AM, Sipeky, C, Hakansson, N, Elliott, R, Ranu, H, Giovannucci, E, Turman, C, Hunter, DJ, Cussenot, O, Orntoft, TF, Lane, A, Lewis, SJ, Davis, M, Key, TJ, Brown, P, Kulkarni, GS, Zlotta, AR, Fleshner, NE, Finelli, A, Mao, X, Marzec, J, MacInnis, RJ, Milne, R, Hopper, JL, Aguado, M, Bustamante, M, Castano-Vinyals, G, Gracia-Lavedan, E, Cecchini, L, Stampfer, M, Ma, J, Sellers, TA, Geybels, MS, Park, H, Zachariah, B, Kolb, S, Wokolorczyk, D, Lubinski, J, Kluzniak, W, Nielsen, SF, Weisher, M, Cuk, K, Vogel, W, Luedeke, M, Logothetis, CJ, Paulo, P, Cardoso, M, Maia, S, Silva, MP, Steele, L, Ding, YC, De Meerleer, G, De Langhe, S, Thierens, H, Lim, J, Tan, MH, Ong, AT, Lin, DW, Kachakova, D, Mitkova, A, Mitev, V, Parliament, M, Jenster, G, Bangma, C, Schroder, FH, Truong, T, Koudou, YA, Michael, A, Kierzek, A, Karlsson, A, Broms, M, Wu, H, Aukim-Hastie, C, Tillmans, L, Riska, S, McDonnell, SK, Dearnaley, D, Spurdle, A, Gardiner, R, Hayes, V, Butler, L, Taylor, R, Papargiris, M, Saunders, P, Kujala, P, Talala, K, Taari, K, Bentzen, S, Hicks, B, Vogt, A, Hutchinson, A, Cox, A, George, A, Toi, A, Evans, A, Van der Kwast, TH, Imai, T, Saito, S, Zhao, S-C, Ren, G, Zhang, Y, Yu, Y, Wu, Y, Wu, J, Zhou, B, Pedersen, J, Lobato-Busto, R, Manuel Ruiz-Dominguez, J, Mengual, L, Alcaraz, A, Pow-Sang, J, Herkommer, K, Vlahova, A, Dikov, T, Christova, S, Carracedo, A, Tretarre, B, Rebillard, X, Mulot, C, Adolfsson, J, Stattin, P, Johansson, J-E, Martin, RM, Thompson, IM, Chambers, S, Aitken, J, Horvath, L, Haynes, A-M, Tilley, W, Risbridger, G, Aly, M, Nordstrom, T, Pharoah, P, Tammela, TLJ, Murtola, T, Auvinen, A, Burnet, N, Barnett, G, Andriole, G, Klim, A, Drake, BF, Borre, M, Kerns, S, Ostrer, H, Zhang, H-W, Cao, G, Lin, J, Ling, J, Li, M, Feng, N, Li, J, He, W, Guo, X, Sun, Z, Wang, G, Guo, J, Southey, MC, FitzGerald, LM, Marsden, G, Gomez-Caamano, A, Carballo, A, Peleteiro, P, Calvo, P, Szulkin, R, Llorca, J, Dierssen-Sotos, T, Gomez-Acebo, I, Lin, H-Y, Ostrander, EA, Bisbjerg, R, Klarskov, P, Roder, MA, Iversen, P, Holleczek, B, Stegmaier, C, Schnoeller, T, Bohnert, P, John, EM, Ost, P, Teo, S-H, Gamulin, M, Kulis, T, Kastelan, Z, Slavov, C, Popov, E, Van den Broeck, T, Joniau, S, Larkin, S, Esteban Castelao, J, Martinez, ME, Van Schaik, RHN, Xu, J, Lindstrom, S, Riboli, E, Berry, C, Siddiq, A, Canzian, F, Kolonel, LN, Le Marchand, L, Freedman, M, Cenee, S, Sanchez, M, and Commission of the European Communities
- Subjects
Multidisciplinary Sciences ,Science & Technology ,MD Multidisciplinary ,Science & Technology - Other Topics ,PRACTICAL Consortium - Abstract
Correction to: Nature Communications; https://doi.org/10.1038/s41467-018-06863-1, published online 5 November 2018.
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- 2019
15. Germline variation at 8q24 and prostate cancer risk in men of European ancestry.
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Carter B.D., Kerns S., Ostrer H., Zhang H.-W., Cao G., Lin J., Li M., Feng N., Li J., He W., Guo X., Sun Z., Wang G., Guo J., Southey M.C., FitzGerald L.M., Marsden G., Gomez-Caamano A., Carballo A., Peleteiro P., Calvo P., Szulkin R., Llorca J., Dierssen-Sotos T., Gomez-Acebo I., Lin H.-Y., Ostrander E.A., Bisbjerg R., Klarskov P., Roder M.A., Iversen P., Holleczek B., Stegmaier C., Schnoeller T., Bohnert P., John E.M., Ost P., Teo S.-H., Gamulin M., Kulis T., Kastelan Z., Slavov C., Popov E., Van den Broeck T., Joniau S., Larkin S., Castelao J.E., Martinez M.E., van Schaik R.H.N., Xu J., Lindstrom S., Riboli E., Berry C., Siddiq A., Canzian F., Kolonel L.N., Le Marchand L., Freedman M., Cenee S., Sanchez M., Wiklund F., Chanock S.J., Easton D.F., Eeles R.A., Kote-Jarai Z., Conti D.V., Haiman C.A., Hutchinson A., Ling J., Papargiris M., Matejcic M., Saunders E.J., Dadaev T., Brook M.N., Wang K., Sheng X., Olama A.A.A., Schumacher F.R., Ingles S.A., Govindasami K., Benlloch S., Berndt S.I., Albanes D., Koutros S., Muir K., Stevens V.L., Gapstur S.M., Tangen C.M., Batra J., Clements J., Gronberg H., Pashayan N., Schleutker J., Wolk A., West C., Mucci L., Kraft P., Cancel-Tassin G., Sorensen K.D., Maehle L., Grindedal E.M., Strom S.S., Neal D.E., Hamdy F.C., Donovan J.L., Travis R.C., Hamilton R.J., Rosenstein B., Lu Y.-J., Giles G.G., Kibel A.S., Vega A., Bensen J.T., Kogevinas M., Penney K.L., Park J.Y., Stanford J.L., Cybulski C., Nordestgaard B.G., Brenner H., Maier C., Kim J., Teixeira M.R., Neuhausen S.L., De Ruyck K., Razack A., Newcomb L.F., Lessel D., Kaneva R., Usmani N., Claessens F., Townsend P.A., Dominguez M.G., Roobol M.J., Menegaux F., Khaw K.-T., Cannon-Albright L.A., Pandha H., Thibodeau S.N., Schaid D.J., Henderson B.E., Stern M.C., Thwaites A., Guy M., Whitmore I., Morgan A., Fisher C., Hazel S., Livni N., Cook M., Fachal L., Weinstein S., Beane Freeman L.E., Hoover R.N., Machiela M.J., Lophatananon A., Goodman P., Moya L., Srinivasan S., Kedda M.-A., Yeadon T., Eckert A., Eklund M., Cavalli-Bjoerkman C., Dunning A.M., Sipeky C., Hakansson N., Elliott R., Ranu H., Giovannucci E., Turman C., Hunter D.J., Cussenot O., Orntoft T.F., Lane A., Lewis S.J., Davis M., Key T.J., Brown P., Kulkarni G.S., Zlotta A.R., Fleshner N.E., Finelli A., Mao X., Marzec J., MacInnis R.J., Milne R., Hopper J.L., Aguado M., Bustamante M., Castano-Vinyals G., Gracia-Lavedan E., Cecchini L., Stampfer M., Ma J., Sellers T.A., Geybels M.S., Park H., Zachariah B., Kolb S., Wokolorczyk D., Jan Lubinski, Kluzniak W., Nielsen S.F., Weisher M., Cuk K., Vogel W., Luedeke M., Logothetis C.J., Paulo P., Cardoso M., Maia S., Silva M.P., Steele L., Ding Y.C., De Meerleer G., De Langhe S., Thierens H., Lim J., Tan M.H., Ong A.T., Lin D.W., Kachakova D., Mitkova A., Mitev V., Parliament M., Jenster G., Bangma C., Schroder F.H., Truong T., Koudou Y.A., Michael A., Kierzek A., Karlsson A., Broms M., Wu H., Aukim-Hastie C., Tillmans L., Riska S., McDonnell S.K., Dearnaley D., Spurdle A., Gardiner R., Hayes V., Butler L., Taylor R., Saunders P., Kujala P., Talala K., Taari K., Bentzen S., Hicks B., Vogt A., Cox A., George A., Toi A., Evans A., van der Kwast T.H., Imai T., Saito S., Zhao S.-C., Ren G., Zhang Y., Yu Y., Wu Y., Wu J., Zhou B., Pedersen J., Lobato-Busto R., Ruiz-Dominguez J.M., Mengual L., Alcaraz A., Pow-Sang J., Herkommer K., Vlahova A., Dikov T., Christova S., Carracedo A., Tretarre B., Rebillard X., Mulot C., Jan Adolfsson, Stattin P., Johansson J.-E., Martin R.M., Thompson I.M., Chambers S., Aitken J., Horvath L., Haynes A.-M., Tilley W., Risbridger G., Aly M., Nordstrom T., Pharoah P., Tammela T.L.J., Murtola T., Auvinen A., Burnet N., Barnett G., Andriole G., Klim A., Drake B.F., Borre M., Carter B.D., Kerns S., Ostrer H., Zhang H.-W., Cao G., Lin J., Li M., Feng N., Li J., He W., Guo X., Sun Z., Wang G., Guo J., Southey M.C., FitzGerald L.M., Marsden G., Gomez-Caamano A., Carballo A., Peleteiro P., Calvo P., Szulkin R., Llorca J., Dierssen-Sotos T., Gomez-Acebo I., Lin H.-Y., Ostrander E.A., Bisbjerg R., Klarskov P., Roder M.A., Iversen P., Holleczek B., Stegmaier C., Schnoeller T., Bohnert P., John E.M., Ost P., Teo S.-H., Gamulin M., Kulis T., Kastelan Z., Slavov C., Popov E., Van den Broeck T., Joniau S., Larkin S., Castelao J.E., Martinez M.E., van Schaik R.H.N., Xu J., Lindstrom S., Riboli E., Berry C., Siddiq A., Canzian F., Kolonel L.N., Le Marchand L., Freedman M., Cenee S., Sanchez M., Wiklund F., Chanock S.J., Easton D.F., Eeles R.A., Kote-Jarai Z., Conti D.V., Haiman C.A., Hutchinson A., Ling J., Papargiris M., Matejcic M., Saunders E.J., Dadaev T., Brook M.N., Wang K., Sheng X., Olama A.A.A., Schumacher F.R., Ingles S.A., Govindasami K., Benlloch S., Berndt S.I., Albanes D., Koutros S., Muir K., Stevens V.L., Gapstur S.M., Tangen C.M., Batra J., Clements J., Gronberg H., Pashayan N., Schleutker J., Wolk A., West C., Mucci L., Kraft P., Cancel-Tassin G., Sorensen K.D., Maehle L., Grindedal E.M., Strom S.S., Neal D.E., Hamdy F.C., Donovan J.L., Travis R.C., Hamilton R.J., Rosenstein B., Lu Y.-J., Giles G.G., Kibel A.S., Vega A., Bensen J.T., Kogevinas M., Penney K.L., Park J.Y., Stanford J.L., Cybulski C., Nordestgaard B.G., Brenner H., Maier C., Kim J., Teixeira M.R., Neuhausen S.L., De Ruyck K., Razack A., Newcomb L.F., Lessel D., Kaneva R., Usmani N., Claessens F., Townsend P.A., Dominguez M.G., Roobol M.J., Menegaux F., Khaw K.-T., Cannon-Albright L.A., Pandha H., Thibodeau S.N., Schaid D.J., Henderson B.E., Stern M.C., Thwaites A., Guy M., Whitmore I., Morgan A., Fisher C., Hazel S., Livni N., Cook M., Fachal L., Weinstein S., Beane Freeman L.E., Hoover R.N., Machiela M.J., Lophatananon A., Goodman P., Moya L., Srinivasan S., Kedda M.-A., Yeadon T., Eckert A., Eklund M., Cavalli-Bjoerkman C., Dunning A.M., Sipeky C., Hakansson N., Elliott R., Ranu H., Giovannucci E., Turman C., Hunter D.J., Cussenot O., Orntoft T.F., Lane A., Lewis S.J., Davis M., Key T.J., Brown P., Kulkarni G.S., Zlotta A.R., Fleshner N.E., Finelli A., Mao X., Marzec J., MacInnis R.J., Milne R., Hopper J.L., Aguado M., Bustamante M., Castano-Vinyals G., Gracia-Lavedan E., Cecchini L., Stampfer M., Ma J., Sellers T.A., Geybels M.S., Park H., Zachariah B., Kolb S., Wokolorczyk D., Jan Lubinski, Kluzniak W., Nielsen S.F., Weisher M., Cuk K., Vogel W., Luedeke M., Logothetis C.J., Paulo P., Cardoso M., Maia S., Silva M.P., Steele L., Ding Y.C., De Meerleer G., De Langhe S., Thierens H., Lim J., Tan M.H., Ong A.T., Lin D.W., Kachakova D., Mitkova A., Mitev V., Parliament M., Jenster G., Bangma C., Schroder F.H., Truong T., Koudou Y.A., Michael A., Kierzek A., Karlsson A., Broms M., Wu H., Aukim-Hastie C., Tillmans L., Riska S., McDonnell S.K., Dearnaley D., Spurdle A., Gardiner R., Hayes V., Butler L., Taylor R., Saunders P., Kujala P., Talala K., Taari K., Bentzen S., Hicks B., Vogt A., Cox A., George A., Toi A., Evans A., van der Kwast T.H., Imai T., Saito S., Zhao S.-C., Ren G., Zhang Y., Yu Y., Wu Y., Wu J., Zhou B., Pedersen J., Lobato-Busto R., Ruiz-Dominguez J.M., Mengual L., Alcaraz A., Pow-Sang J., Herkommer K., Vlahova A., Dikov T., Christova S., Carracedo A., Tretarre B., Rebillard X., Mulot C., Jan Adolfsson, Stattin P., Johansson J.-E., Martin R.M., Thompson I.M., Chambers S., Aitken J., Horvath L., Haynes A.-M., Tilley W., Risbridger G., Aly M., Nordstrom T., Pharoah P., Tammela T.L.J., Murtola T., Auvinen A., Burnet N., Barnett G., Andriole G., Klim A., Drake B.F., and Borre M.
- Abstract
Chromosome 8q24 is a susceptibility locus for multiple cancers, including prostate cancer. Here we combine genetic data across the 8q24 susceptibility region from 71,535 prostate cancer cases and 52,935 controls of European ancestry to define the overall contribution of germline variation at 8q24 to prostate cancer risk. We identify 12 independent risk signals for prostate cancer (p < 4.28 x 10-15), including three risk variants that have yet to be reported. From a polygenic risk score (PRS) model, derived to assess the cumulative effect of risk variants at 8q24, men in the top 1% of the PRS have a 4-fold (95%CI = 3.62-4.40) greater risk compared to the population average. These 12 variants account for ~25% of what can be currently explained of the familial risk of prostate cancer by known genetic risk factors. These findings highlight the overwhelming contribution of germline variation at 8q24 on prostate cancer risk which has implications for population risk stratification.Copyright © 2018, The Author(s).
- Published
- 2019
16. Erratum to: Germline variation at 8q24 and prostate cancer risk in men of European ancestry (Nature Communications, (2018), 9, 1, (4616), 10.1038/s41467-018-06863-1).
- Author
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Wang G., Lessel D., Kaneva R., Usmani N., Kastelan Z., Slavov C., Popov E., Van den Broeck T., Joniau S., Larkin S., Castelao J.E., Martinez M.E., van Schaik R.H.N., Xu J., Lindstrom S., Riboli E., Berry C., Siddiq A., Canzian F., Kolonel L.N., Le Marchand L., Freedman M., Cenee S., Sanchez M., Wiklund F., Chanock S.J., Easton D.F., Eeles R.A., Kote-Jarai Z., Conti D.V., Haiman C.A., Hutchinson A., Ling J., Papargiris M., Matejcic M., Saunders E.J., Dadaev T., Brook M.N., Wang K., Sheng X., Olama A.A.A., Schumacher F.R., Ingles S.A., Govindasami K., Benlloch S., Berndt S.I., Albanes D., Koutros S., Muir K., Stevens V.L., Gapstur S.M., Tangen C.M., Batra J., Clements J., Gronberg H., Pashayan N., Schleutker J., Wolk A., West C., Mucci L., Kraft P., Cancel-Tassin G., Sorensen K.D., Maehle L., Grindedal E.M., Strom S.S., Neal D.E., Hamdy F.C., Donovan J.L., Travis R.C., Hamilton R.J., Rosenstein B., Lu Y.-J., Giles G.G., Kibel A.S., Vega A., Bensen J.T., Kogevinas M., Penney K.L., Park J.Y., Stanford J.L., Cybulski C., Nordestgaard B.G., Brenner H., Maier C., Kim J., Teixeira M.R., Neuhausen S.L., De Ruyck K., Razack A., Newcomb L.F., Claessens F., Townsend P.A., Gago-Dominguez M., Roobol M.J., Menegaux F., Khaw K.-T., Cannon-Albright L.A., Pandha H., Thibodeau S.N., Schaid D.J., Henderson B.E., Stern M.C., Thwaites A., Guy M., Whitmore I., Morgan A., Fisher C., Hazel S., Livni N., Cook M., Fachal L., Weinstein S., Beane Freeman L.E., Hoover R.N., Machiela M.J., Lophatananon A., Carter B.D., Goodman P., Moya L., Srinivasan S., Kedda M.-A., Yeadon T., Eckert A., Eklund M., Cavalli-Bjoerkman C., Dunning A.M., Sipeky C., Hakansson N., Elliott R., Ranu H., Giovannucci E., Turman C., Hunter D.J., Cussenot O., Orntoft T.F., Lane A., Lewis S.J., Davis M., Key T.J., Brown P., Kulkarni G.S., Zlotta A.R., Fleshner N.E., Finelli A., Mao X., Marzec J., MacInnis R.J., Milne R., Hopper J.L., Aguado M., Bustamante M., Castano-Vinyals G., Gracia-Lavedan E., Cecchini L., Stampfer M., Ma J., Sellers T.A., Geybels M.S., Park H., Zachariah B., Kolb S., Wokolorczyk D., Lubinski J., Kluzniak W., Nielsen S.F., Weisher M., Cuk K., Vogel W., Luedeke M., Logothetis C.J., Paulo P., Cardoso M., Maia S., Silva M.P., Steele L., Ding Y.C., De Meerleer G., De Langhe S., Thierens H., Lim J., Tan M.H., Ong A.T., Lin D.W., Kachakova D., Mitkova A., Mitev V., Parliament M., Jenster G., Bangma C., Schroder F.H., Truong T., Koudou Y.A., Michael A., Kierzek A., Karlsson A., Broms M., Wu H., Aukim-Hastie C., Tillmans L., Riska S., McDonnell S.K., Dearnaley D., Spurdle A., Gardiner R., Hayes V., Butler L., Taylor R., Saunders P., Kujala P., Talala K., Taari K., Bentzen S., Hicks B., Vogt A., Cox A., George A., Toi A., Evans A., van der Kwast T.H., Imai T., Saito S., Zhao S.-C., Ren G., Zhang Y., Yu Y., Wu Y., Wu J., Zhou B., Pedersen J., Lobato-Busto R., Ruiz-Dominguez J.M., Mengual L., Alcaraz A., Pow-Sang J., Herkommer K., Vlahova A., Dikov T., Christova S., Carracedo A., Tretarre B., Rebillard X., Mulot C., Adolfsson J., Stattin P., Johansson J.-E., Martin R.M., Thompson I.M., Chambers S., Aitken J., Horvath L., Haynes A.-M., Tilley W., Risbridger G., Aly M., Nordstrom T., Pharoah P., Tammela T.L.J., Murtola T., Auvinen A., Burnet N., Barnett G., Andriole G., Klim A., Drake B.F., Borre M., Kerns S., Ostrer H., Zhang H.-W., Cao G., Lin J., Li M., Feng N., Li J., He W., Guo X., Sun Z., Guo J., Southey M.C., FitzGerald L.M., Marsden G., Gomez-Caamano A., Carballo A., Peleteiro P., Calvo P., Szulkin R., Llorca J., Dierssen-Sotos T., Gomez-Acebo I., Lin H.-Y., Ostrander E.A., Bisbjerg R., Klarskov P., Roder M.A., Iversen P., Holleczek B., Stegmaier C., Schnoeller T., Bohnert P., John E.M., Ost P., Teo S.-H., Gamulin M., Kulis T., Wang G., Lessel D., Kaneva R., Usmani N., Kastelan Z., Slavov C., Popov E., Van den Broeck T., Joniau S., Larkin S., Castelao J.E., Martinez M.E., van Schaik R.H.N., Xu J., Lindstrom S., Riboli E., Berry C., Siddiq A., Canzian F., Kolonel L.N., Le Marchand L., Freedman M., Cenee S., Sanchez M., Wiklund F., Chanock S.J., Easton D.F., Eeles R.A., Kote-Jarai Z., Conti D.V., Haiman C.A., Hutchinson A., Ling J., Papargiris M., Matejcic M., Saunders E.J., Dadaev T., Brook M.N., Wang K., Sheng X., Olama A.A.A., Schumacher F.R., Ingles S.A., Govindasami K., Benlloch S., Berndt S.I., Albanes D., Koutros S., Muir K., Stevens V.L., Gapstur S.M., Tangen C.M., Batra J., Clements J., Gronberg H., Pashayan N., Schleutker J., Wolk A., West C., Mucci L., Kraft P., Cancel-Tassin G., Sorensen K.D., Maehle L., Grindedal E.M., Strom S.S., Neal D.E., Hamdy F.C., Donovan J.L., Travis R.C., Hamilton R.J., Rosenstein B., Lu Y.-J., Giles G.G., Kibel A.S., Vega A., Bensen J.T., Kogevinas M., Penney K.L., Park J.Y., Stanford J.L., Cybulski C., Nordestgaard B.G., Brenner H., Maier C., Kim J., Teixeira M.R., Neuhausen S.L., De Ruyck K., Razack A., Newcomb L.F., Claessens F., Townsend P.A., Gago-Dominguez M., Roobol M.J., Menegaux F., Khaw K.-T., Cannon-Albright L.A., Pandha H., Thibodeau S.N., Schaid D.J., Henderson B.E., Stern M.C., Thwaites A., Guy M., Whitmore I., Morgan A., Fisher C., Hazel S., Livni N., Cook M., Fachal L., Weinstein S., Beane Freeman L.E., Hoover R.N., Machiela M.J., Lophatananon A., Carter B.D., Goodman P., Moya L., Srinivasan S., Kedda M.-A., Yeadon T., Eckert A., Eklund M., Cavalli-Bjoerkman C., Dunning A.M., Sipeky C., Hakansson N., Elliott R., Ranu H., Giovannucci E., Turman C., Hunter D.J., Cussenot O., Orntoft T.F., Lane A., Lewis S.J., Davis M., Key T.J., Brown P., Kulkarni G.S., Zlotta A.R., Fleshner N.E., Finelli A., Mao X., Marzec J., MacInnis R.J., Milne R., Hopper J.L., Aguado M., Bustamante M., Castano-Vinyals G., Gracia-Lavedan E., Cecchini L., Stampfer M., Ma J., Sellers T.A., Geybels M.S., Park H., Zachariah B., Kolb S., Wokolorczyk D., Lubinski J., Kluzniak W., Nielsen S.F., Weisher M., Cuk K., Vogel W., Luedeke M., Logothetis C.J., Paulo P., Cardoso M., Maia S., Silva M.P., Steele L., Ding Y.C., De Meerleer G., De Langhe S., Thierens H., Lim J., Tan M.H., Ong A.T., Lin D.W., Kachakova D., Mitkova A., Mitev V., Parliament M., Jenster G., Bangma C., Schroder F.H., Truong T., Koudou Y.A., Michael A., Kierzek A., Karlsson A., Broms M., Wu H., Aukim-Hastie C., Tillmans L., Riska S., McDonnell S.K., Dearnaley D., Spurdle A., Gardiner R., Hayes V., Butler L., Taylor R., Saunders P., Kujala P., Talala K., Taari K., Bentzen S., Hicks B., Vogt A., Cox A., George A., Toi A., Evans A., van der Kwast T.H., Imai T., Saito S., Zhao S.-C., Ren G., Zhang Y., Yu Y., Wu Y., Wu J., Zhou B., Pedersen J., Lobato-Busto R., Ruiz-Dominguez J.M., Mengual L., Alcaraz A., Pow-Sang J., Herkommer K., Vlahova A., Dikov T., Christova S., Carracedo A., Tretarre B., Rebillard X., Mulot C., Adolfsson J., Stattin P., Johansson J.-E., Martin R.M., Thompson I.M., Chambers S., Aitken J., Horvath L., Haynes A.-M., Tilley W., Risbridger G., Aly M., Nordstrom T., Pharoah P., Tammela T.L.J., Murtola T., Auvinen A., Burnet N., Barnett G., Andriole G., Klim A., Drake B.F., Borre M., Kerns S., Ostrer H., Zhang H.-W., Cao G., Lin J., Li M., Feng N., Li J., He W., Guo X., Sun Z., Guo J., Southey M.C., FitzGerald L.M., Marsden G., Gomez-Caamano A., Carballo A., Peleteiro P., Calvo P., Szulkin R., Llorca J., Dierssen-Sotos T., Gomez-Acebo I., Lin H.-Y., Ostrander E.A., Bisbjerg R., Klarskov P., Roder M.A., Iversen P., Holleczek B., Stegmaier C., Schnoeller T., Bohnert P., John E.M., Ost P., Teo S.-H., Gamulin M., and Kulis T.
- Abstract
The original version of this Article contained an error in the spelling of the author Manuela Gago-Dominguez, which was incorrectly given as Manuela G. Dominguez. This has now been corrected in both the PDF and HTML versions of the Article.Copyright © 2019, The Author(s).
- Published
- 2019
17. Germline variation at 8q24 and prostate cancer risk in men of European ancestry
- Author
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Matejcic, M, Saunders, EJ, Dadaev, T, Brook, MN, Wang, K, Sheng, X, Olama, AAA, Schumacher, FR, Ingles, SA, Govindasami, K, Benlloch, S, Berndt, SI, Albanes, D, Koutros, S, Muir, K, Stevens, VL, Gapstur, SM, Tangen, CM, Batra, J, Clements, J, Gronberg, H, Pashayan, N, Schleutker, J, Wolk, A, West, C, Mucci, L, Kraft, P, Cancel-Tassin, G, Sorensen, KD, Maehle, L, Grindedal, EM, Strom, SS, Neal, DE, Hamdy, FC, Donovan, JL, Travis, RC, Hamilton, RJ, Rosenstein, B, Lu, YJ, Giles, GG, Kibel, AS, Vega, A, Bensen, JT, Kogevinas, M, Penney, KL, Park, JY, Stanford, JL, Cybulski, C, Nordestgaard, BG, Brenner, H, Maier, C, Kim, J, Teixeira, MR, Neuhausen, SL, De Ruyck, K, Razack, A, Newcomb, LF, Lessel, D, Kaneva, R, Usmani, N, Claessens, F, Townsend, PA, Dominguez, MG, Roobol, MJ, Menegaux, F, Khaw, KT, Cannon-Albright, LA, Pandha, H, Thibodeau, SN, Schaid, DJ, Henderson, BE, Stern, MC, Thwaites, A, Guy, M, Whitmore, I, Morgan, A, Fisher, C, Hazel, S, Livni, N, Cook, M, Fachal, L, Weinstein, S, Beane Freeman, LE, Hoover, RN, Machiela, MJ, Lophatananon, A, Carter, BD, Goodman, P, Moya, L, Srinivasan, S, Kedda, MA, Yeadon, T, Eckert, A, Eklund, M, Cavalli-Bjoerkman, C, Dunning, AM, Sipeky, C, Hakansson, N, Elliott, R, and Ranu, H
- Subjects
Genetic Markers ,Male ,Genotype ,European Continental Ancestry Group ,Prostatic Neoplasms ,Chromosome Mapping ,Risk Assessment ,Haplotypes ,Risk Factors ,Case-Control Studies ,Humans ,Genetic Predisposition to Disease ,Disease Susceptibility ,Chromosomes, Human, Pair 8 - Abstract
© 2018, The Author(s). Chromosome 8q24 is a susceptibility locus for multiple cancers, including prostate cancer. Here we combine genetic data across the 8q24 susceptibility region from 71,535 prostate cancer cases and 52,935 controls of European ancestry to define the overall contribution of germline variation at 8q24 to prostate cancer risk. We identify 12 independent risk signals for prostate cancer (p < 4.28 × 10−15), including three risk variants that have yet to be reported. From a polygenic risk score (PRS) model, derived to assess the cumulative effect of risk variants at 8q24, men in the top 1% of the PRS have a 4-fold (95%CI = 3.62–4.40) greater risk compared to the population average. These 12 variants account for ~25% of what can be currently explained of the familial risk of prostate cancer by known genetic risk factors. These findings highlight the overwhelming contribution of germline variation at 8q24 on prostate cancer risk which has implications for population risk stratification.
- Published
- 2018
18. Germline sequencing of advanced prostate cancer patients in the BARCODE2 trial
- Author
-
Benafif, S., primary, Rageevakumar, R., additional, Whitmore, I., additional, Cieze-Borrella, C., additional, Saunders, E., additional, Kote-Jarai, Z., additional, and Eeles, R., additional
- Published
- 2019
- Full Text
- View/download PDF
19. Aspiring surgeons and temporary lecturer posts in anatomy
- Author
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Willan, P., Whitmore, I., and Humpherson, J.
- Published
- 1996
20. Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants.
- Author
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Stampfer M., Ranu H., Hicks B., Vogt A., Cox A., Davis M., Brown P., George A., Marsden G., Lane A., Lewis S.J., Berry C., Kulkarni G.S., Toi A., Evans A., Zlotta A.R., Van Der Kwast T.H., Imai T., Saito S., Marzec J., Cao G., Lin J., Li M., Zhao S.-C., Ren G., Yu Y., Wu Y., Wu J., Zhou B., Zhang Y., Li J., He W., Guo J., Pedersen J., Hopper J.L., Milne R., Klim A., Carballo A., Lobato-Busto R., Peleteiro P., Calvo P., Aguado M., Ruiz-Dominguez J.M., Cecchini L., Mengual L., Alcaraz A., Bustamante M., Gracia-Lavedan E., Dierssen-Sotos T., Gomez-Acebo I., Pow-Sang J., Park H., Zachariah B., Kluzniak W., Kolb S., Klarskov P., Stegmaier C., Vogel W., Herkommer K., Bohnert P., Maia S., Silva M.P., De Langhe S., Thierens H., Tan M.H., Ong A.T., Kastelan Z., Popov E., Kachakova D., Mitkova A., Vlahova A., Dikov T., Christova S., Carracedo A., Bangma C., Schroder F.H., Cenee S., Tretarre B., Rebillard X., Mulot C., Sanchez M., Adolfsson J., Stattin P., Johansson J.-E., Cavalli-Bjoerkman C., Karlsson A., Broms M., Wu H., Tillmans L., Riska S., Freedman M., Wiklund F., Chanock S., Henderson B.E., Easton D.F., Haiman C.A., Eeles R.A., Conti D.V., Kote-Jarai Z., Hutchinson A., Ling J., Papargiris M., Dadaev T., Saunders E.J., Newcombe P.J., Anokian E., Leongamornlert D.A., Brook M.N., Cieza-Borrella C., Mijuskovic M., Wakerell S., Olama A.A.A., Schumacher F.R., Berndt S.I., Benlloch S., Ahmed M., Goh C., Sheng X., Zhang Z., Muir K., Govindasami K., Lophatananon A., Stevens V.L., Gapstur S.M., Carter B.D., Tangen C.M., Goodman P., Thompson I.M., Batra J., Chambers S., Moya L., Clements J., Horvath L., Tilley W., Risbridger G., Gronberg H., Aly M., Nordstrom T., Pharoah P., Pashayan N., Schleutker J., Tammela T.L.J., Sipeky C., Auvinen A., Albanes D., Weinstein S., Wolk A., Hakansson N., West C., Dunning A.M., Burnet N., Mucci L., Giovannucci E., Andriole G., Cussenot O., Cancel-Tassin G., Koutros S., Freeman L.E.B., Sorensen K.D., Orntoft T.F., Borre M., Maehle L., Grindedal E.M., Neal D.E., Donovan J.L., Hamdy F.C., Martin R.M., Travis R.C., Key T.J., Hamilton R.J., Fleshner N.E., Finelli A., Ingles S.A., Stern M.C., Rosenstein B., Kerns S., Ostrer H., Lu Y.-J., Zhang H.-W., Feng N., Mao X., Guo X., Wang G., Sun Z., Giles G.G., Southey M.C., MacInnis R.J., Fitzgerald L.M., Kibel A.S., Drake B.F., Vega A., Gomez-Caamano A., Fachal L., Szulkin R., Eklund M., Kogevinas M., Llorca J., Castano-Vinyals G., Penney K.L., Park J.Y., Sellers T.A., Lin H.-Y., Stanford J.L., Cybulski C., Wokolorczyk D., Lubinski J., Ostrander E.A., Geybels M.S., Nordestgaard Bo.G., Nielsen S.F., Weisher M., Bisbjerg R., Roder M.A., Iversen P., Brenner H., Cuk K., Holleczek B., Maier C., Luedeke M., Schnoeller T., Kim J., Logothetis C.J., John E.M., Teixeira M.R., Paulo P., Cardoso M., Neuhausen S.L., Steele L., Ding Y.C., De Ruyck K., De Meerleer G., Ost P., Razack A., Lim J., Teo S.-H., Lin D.W., Newcomb L.F., Lessel D., Gamulin M., Kulis T., Kaneva R., Usmani N., Slavov C., Mitev V., Parliament M., Singhal S., Claessens F., Joniau S., Van Den Broeck T., Larkin S., Townsend P.A., Aukim-Hastie C., Gago-Dominguez M., Castelao J.E., Martinez M.E., Roobol M.J., Jenster G., Van Schaik R.H.N., Menegaux F., Truong T., Koudou Y.A., Xu J., Khaw K.-T., Cannon-Albright L., Pandha H., Michael A., Kierzek A., Thibodeau S.N., McDonnell S.K., Schaid D.J., Lindstrom S., Turman C., Ma J., Hunter D.J., Riboli E., Siddiq A., Canzian F., Kolonel L.N., Le Marchand L., Hoover R.N., Machiela M.J., Kraft P., Cook M., Thwaites A., Guy M., Whitmore I., Morgan A., Fisher C., Hazel S., Livni N., Spurdle A., Srinivasan S., Kedda M.-A., Aitken J., Gardiner R., Hayes V., Butler L., Taylor R., Yeadon T., Eckert A., Saunders P., Haynes A.-M., Kujala P., Talala K., Murtola T., Taari K., Dearnaley D., Barnett G., Bentzen So., Elliott R., Stampfer M., Ranu H., Hicks B., Vogt A., Cox A., Davis M., Brown P., George A., Marsden G., Lane A., Lewis S.J., Berry C., Kulkarni G.S., Toi A., Evans A., Zlotta A.R., Van Der Kwast T.H., Imai T., Saito S., Marzec J., Cao G., Lin J., Li M., Zhao S.-C., Ren G., Yu Y., Wu Y., Wu J., Zhou B., Zhang Y., Li J., He W., Guo J., Pedersen J., Hopper J.L., Milne R., Klim A., Carballo A., Lobato-Busto R., Peleteiro P., Calvo P., Aguado M., Ruiz-Dominguez J.M., Cecchini L., Mengual L., Alcaraz A., Bustamante M., Gracia-Lavedan E., Dierssen-Sotos T., Gomez-Acebo I., Pow-Sang J., Park H., Zachariah B., Kluzniak W., Kolb S., Klarskov P., Stegmaier C., Vogel W., Herkommer K., Bohnert P., Maia S., Silva M.P., De Langhe S., Thierens H., Tan M.H., Ong A.T., Kastelan Z., Popov E., Kachakova D., Mitkova A., Vlahova A., Dikov T., Christova S., Carracedo A., Bangma C., Schroder F.H., Cenee S., Tretarre B., Rebillard X., Mulot C., Sanchez M., Adolfsson J., Stattin P., Johansson J.-E., Cavalli-Bjoerkman C., Karlsson A., Broms M., Wu H., Tillmans L., Riska S., Freedman M., Wiklund F., Chanock S., Henderson B.E., Easton D.F., Haiman C.A., Eeles R.A., Conti D.V., Kote-Jarai Z., Hutchinson A., Ling J., Papargiris M., Dadaev T., Saunders E.J., Newcombe P.J., Anokian E., Leongamornlert D.A., Brook M.N., Cieza-Borrella C., Mijuskovic M., Wakerell S., Olama A.A.A., Schumacher F.R., Berndt S.I., Benlloch S., Ahmed M., Goh C., Sheng X., Zhang Z., Muir K., Govindasami K., Lophatananon A., Stevens V.L., Gapstur S.M., Carter B.D., Tangen C.M., Goodman P., Thompson I.M., Batra J., Chambers S., Moya L., Clements J., Horvath L., Tilley W., Risbridger G., Gronberg H., Aly M., Nordstrom T., Pharoah P., Pashayan N., Schleutker J., Tammela T.L.J., Sipeky C., Auvinen A., Albanes D., Weinstein S., Wolk A., Hakansson N., West C., Dunning A.M., Burnet N., Mucci L., Giovannucci E., Andriole G., Cussenot O., Cancel-Tassin G., Koutros S., Freeman L.E.B., Sorensen K.D., Orntoft T.F., Borre M., Maehle L., Grindedal E.M., Neal D.E., Donovan J.L., Hamdy F.C., Martin R.M., Travis R.C., Key T.J., Hamilton R.J., Fleshner N.E., Finelli A., Ingles S.A., Stern M.C., Rosenstein B., Kerns S., Ostrer H., Lu Y.-J., Zhang H.-W., Feng N., Mao X., Guo X., Wang G., Sun Z., Giles G.G., Southey M.C., MacInnis R.J., Fitzgerald L.M., Kibel A.S., Drake B.F., Vega A., Gomez-Caamano A., Fachal L., Szulkin R., Eklund M., Kogevinas M., Llorca J., Castano-Vinyals G., Penney K.L., Park J.Y., Sellers T.A., Lin H.-Y., Stanford J.L., Cybulski C., Wokolorczyk D., Lubinski J., Ostrander E.A., Geybels M.S., Nordestgaard Bo.G., Nielsen S.F., Weisher M., Bisbjerg R., Roder M.A., Iversen P., Brenner H., Cuk K., Holleczek B., Maier C., Luedeke M., Schnoeller T., Kim J., Logothetis C.J., John E.M., Teixeira M.R., Paulo P., Cardoso M., Neuhausen S.L., Steele L., Ding Y.C., De Ruyck K., De Meerleer G., Ost P., Razack A., Lim J., Teo S.-H., Lin D.W., Newcomb L.F., Lessel D., Gamulin M., Kulis T., Kaneva R., Usmani N., Slavov C., Mitev V., Parliament M., Singhal S., Claessens F., Joniau S., Van Den Broeck T., Larkin S., Townsend P.A., Aukim-Hastie C., Gago-Dominguez M., Castelao J.E., Martinez M.E., Roobol M.J., Jenster G., Van Schaik R.H.N., Menegaux F., Truong T., Koudou Y.A., Xu J., Khaw K.-T., Cannon-Albright L., Pandha H., Michael A., Kierzek A., Thibodeau S.N., McDonnell S.K., Schaid D.J., Lindstrom S., Turman C., Ma J., Hunter D.J., Riboli E., Siddiq A., Canzian F., Kolonel L.N., Le Marchand L., Hoover R.N., Machiela M.J., Kraft P., Cook M., Thwaites A., Guy M., Whitmore I., Morgan A., Fisher C., Hazel S., Livni N., Spurdle A., Srinivasan S., Kedda M.-A., Aitken J., Gardiner R., Hayes V., Butler L., Taylor R., Yeadon T., Eckert A., Saunders P., Haynes A.-M., Kujala P., Talala K., Murtola T., Taari K., Dearnaley D., Barnett G., Bentzen So., and Elliott R.
- Abstract
Prostate cancer is a polygenic disease with a large heritable component. A number of common, low-penetrance prostate cancer risk loci have been identified through GWAS. Here we apply the Bayesian multivariate variable selection algorithm JAM to fine-map 84 prostate cancer susceptibility loci, using summary data from a large European ancestry meta-analysis. We observe evidence for multiple independent signals at 12 regions and 99 risk signals overall. Only 15 original GWAS tag SNPs remain among the catalogue of candidate variants identified; the remainder are replaced by more likely candidates. Biological annotation of our credible set of variants indicates significant enrichment within promoter and enhancer elements, and transcription factor-binding sites, including AR, ERG and FOXA1. In 40 regions at least one variant is colocalised with an eQTL in prostate cancer tissue. The refined set of candidate variants substantially increase the proportion of familial relative risk explained by these known susceptibility regions, which highlights the importance of fine-mapping studies and has implications for clinical risk profiling.Copyright © 2018 The Author(s).
- Published
- 2018
21. DNA repair gene panel mutations in young onset and aggressive vs non aggressive prostate cancer cases in the UK
- Author
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Eeles, R., primary, Saunders, E., additional, Wakerell, S., additional, Whitmore, I., additional, Cieza-Borrella, C., additional, Govindasami, K., additional, Dadaev, T., additional, Kote-Jarai, Z., additional, and Leongamornlert, D., additional
- Published
- 2017
- Full Text
- View/download PDF
22. 879P - Germline sequencing of advanced prostate cancer patients in the BARCODE2 trial
- Author
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Benafif, S., Rageevakumar, R., Whitmore, I., Cieze-Borrella, C., Saunders, E., Kote-Jarai, Z., and Eeles, R.
- Published
- 2019
- Full Text
- View/download PDF
23. Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans
- Author
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Al Olama, AA, Dadaev, T, Hazelett, DJ, Li, Q, Leongamornlert, D, Saunders, EJ, Stephens, S, Cieza-Borrella, C, Whitmore, I, Garcia, SB, Giles, GG, Southey, MC, Fitzgerald, L, Gronberg, H, Wiklund, F, Aly, M, Henderson, BE, Schumacher, F, Haiman, CA, Schleutker, J, Wahlfors, T, Tammela, TL, Nordestgaard, BG, Key, TJ, Travis, RC, Neal, DE, Donovan, JL, Hamdy, FC, Pharoah, P, Pashayan, N, Khaw, K-T, Stanford, JL, Thibodeau, SN, Mcdonnell, SK, Schaid, DJ, Maier, C, Vogel, W, Luedeke, M, Herkommer, K, Kibel, AS, Cybulski, C, Wokolorczyk, D, Kluzniak, W, Cannon-Albright, L, Brenner, H, Butterbach, K, Arndt, V, Park, JY, Sellers, T, Lin, H-Y, Slavov, C, Kaneva, R, Mitev, V, Batra, J, Clements, JA, Spurdle, A, Teixeira, MR, Paulo, P, Maia, S, Pandha, H, Michael, A, Kierzek, A, Govindasami, K, Guy, M, Lophatonanon, A, Muir, K, Vinuela, A, Brown, AA, Freedman, M, Conti, DV, Easton, D, Coetzee, GA, Eeles, RA, Kote-Jarai, Z, Al Olama, AA, Dadaev, T, Hazelett, DJ, Li, Q, Leongamornlert, D, Saunders, EJ, Stephens, S, Cieza-Borrella, C, Whitmore, I, Garcia, SB, Giles, GG, Southey, MC, Fitzgerald, L, Gronberg, H, Wiklund, F, Aly, M, Henderson, BE, Schumacher, F, Haiman, CA, Schleutker, J, Wahlfors, T, Tammela, TL, Nordestgaard, BG, Key, TJ, Travis, RC, Neal, DE, Donovan, JL, Hamdy, FC, Pharoah, P, Pashayan, N, Khaw, K-T, Stanford, JL, Thibodeau, SN, Mcdonnell, SK, Schaid, DJ, Maier, C, Vogel, W, Luedeke, M, Herkommer, K, Kibel, AS, Cybulski, C, Wokolorczyk, D, Kluzniak, W, Cannon-Albright, L, Brenner, H, Butterbach, K, Arndt, V, Park, JY, Sellers, T, Lin, H-Y, Slavov, C, Kaneva, R, Mitev, V, Batra, J, Clements, JA, Spurdle, A, Teixeira, MR, Paulo, P, Maia, S, Pandha, H, Michael, A, Kierzek, A, Govindasami, K, Guy, M, Lophatonanon, A, Muir, K, Vinuela, A, Brown, AA, Freedman, M, Conti, DV, Easton, D, Coetzee, GA, Eeles, RA, and Kote-Jarai, Z
- Abstract
Genome-wide association studies (GWAS) have identified numerous common prostate cancer (PrCa) susceptibility loci. We have fine-mapped 64 GWAS regions known at the conclusion of the iCOGS study using large-scale genotyping and imputation in 25 723 PrCa cases and 26 274 controls of European ancestry. We detected evidence for multiple independent signals at 16 regions, 12 of which contained additional newly identified significant associations. A single signal comprising a spectrum of correlated variation was observed at 39 regions; 35 of which are now described by a novel more significantly associated lead SNP, while the originally reported variant remained as the lead SNP only in 4 regions. We also confirmed two association signals in Europeans that had been previously reported only in East-Asian GWAS. Based on statistical evidence and linkage disequilibrium (LD) structure, we have curated and narrowed down the list of the most likely candidate causal variants for each region. Functional annotation using data from ENCODE filtered for PrCa cell lines and eQTL analysis demonstrated significant enrichment for overlap with bio-features within this set. By incorporating the novel risk variants identified here alongside the refined data for existing association signals, we estimate that these loci now explain ∼38.9% of the familial relative risk of PrCa, an 8.9% improvement over the previously reported GWAS tag SNPs. This suggests that a significant fraction of the heritability of PrCa may have been hidden during the discovery phase of GWAS, in particular due to the presence of multiple independent signals within the same region
- Published
- 2015
24. A comparison between the physiological and histochemical characterisation of urethral striated muscle in the guinea pig
- Author
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Whitmore, I., Gosling, J. A., and Gilpin, S. A.
- Published
- 1984
- Full Text
- View/download PDF
25. 786PD - DNA repair gene panel mutations in young onset and aggressive vs non aggressive prostate cancer cases in the UK
- Author
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Eeles, R., Saunders, E., Wakerell, S., Whitmore, I., Cieza-Borrella, C., Govindasami, K., Dadaev, T., Kote-Jarai, Z., and Leongamornlert, D.
- Published
- 2017
- Full Text
- View/download PDF
26. Mutational processes molding the genomes of 21 breast cancers
- Author
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Nik-Zainal, S. (Serena), Alexandrov, L.B. (Ludmil), Wedge, D.C. (David), Loo, P. (Peter) van, Greenman, C. (Chris), Raine, (Keiran), Jones, D. (David), Hinton, J. (Jonathan), Marshall, J. (John), Stebbings, L.A. (Lucy), Menzies, D., Martin, S. (Sandra), Leung, K. (Kenric), Chen, L. (Lina), Leroy, C. (Catherine), Ramakrishna, M. (Manasa), Rance, R. (Richard), Lau, K.W. (King Wai), Mudie, L. (Laura), Varela, I. (Ignacio), McBride, D.J. (David), Bignell, G.R. (Graham), Cooke, S.L. (Susanna), Shlien, A. (Adam), Gamble, J. (John), Whitmore, I. (Ian), Maddison, M. (Mark), Tarpey, P.S. (Patrick), Davies, H. (Helen), Papaemmanuil, E. (Elli), Stephens, P.J. (Philip), McLaren, S. (Stuart), Butler, A. (Adam), Teague, J. (Jon), Jönsson, G. (Göran), Garber, J., Silver, R.A. (Angus), Miron, P. (Penelope), Fatima, A. (Aquila), Boyault, S. (Sandrine), Langerød, A. (Anita), Tutt, A. (Andrew), Martens, J.W.M. (John), Aparicio, S.A.J.R. (Samuel A. J.), Borg, Å. (Åke), Salomon, A.V. (Anne Vincent), Thomas, G. (Gilles), Borresen-Dale, A.-L. (Anne-Lise), Richardson, A.L. (Andrea), Neuberger, M.S. (Michael), Futreal, P.A. (Andrew), Campbell, P.J. (Peter), Stratton, M.R. (Michael), Nik-Zainal, S. (Serena), Alexandrov, L.B. (Ludmil), Wedge, D.C. (David), Loo, P. (Peter) van, Greenman, C. (Chris), Raine, (Keiran), Jones, D. (David), Hinton, J. (Jonathan), Marshall, J. (John), Stebbings, L.A. (Lucy), Menzies, D., Martin, S. (Sandra), Leung, K. (Kenric), Chen, L. (Lina), Leroy, C. (Catherine), Ramakrishna, M. (Manasa), Rance, R. (Richard), Lau, K.W. (King Wai), Mudie, L. (Laura), Varela, I. (Ignacio), McBride, D.J. (David), Bignell, G.R. (Graham), Cooke, S.L. (Susanna), Shlien, A. (Adam), Gamble, J. (John), Whitmore, I. (Ian), Maddison, M. (Mark), Tarpey, P.S. (Patrick), Davies, H. (Helen), Papaemmanuil, E. (Elli), Stephens, P.J. (Philip), McLaren, S. (Stuart), Butler, A. (Adam), Teague, J. (Jon), Jönsson, G. (Göran), Garber, J., Silver, R.A. (Angus), Miron, P. (Penelope), Fatima, A. (Aquila), Boyault, S. (Sandrine), Langerød, A. (Anita), Tutt, A. (Andrew), Martens, J.W.M. (John), Aparicio, S.A.J.R. (Samuel A. J.), Borg, Å. (Åke), Salomon, A.V. (Anne Vincent), Thomas, G. (Gilles), Borresen-Dale, A.-L. (Anne-Lise), Richardson, A.L. (Andrea), Neuberger, M.S. (Michael), Futreal, P.A. (Andrew), Campbell, P.J. (Peter), and Stratton, M.R. (Michael)
- Abstract
All cancers carry somatic mutations. The patterns of mutation in cancer genomes reflect the DNA damage and repair processes to which cancer cells and their precursors have been exposed. To explore these mechanisms further, we generated catalogs of somatic mutation from 21 breast cancers and applied mathematical methods to extract mutational signatures of the underlying processes. Multiple distinct single- and double-nucleotide substitution signatures were discernible. Cancers with BRCA1 or BRCA2 mutations exhibited a characteristic combination of substitution mutation signatures and a distinctive profile of deletions. Complex relationships between somatic mutation prevalence and transcription were detected. A remarkable phenomenon of localized hypermutation, termed "kataegis," was observed. Regions of kataegis differed between cancers but usually colocalized with somatic rearrangements. Base substitutions in these regions were almost exclusively of cytosine at TpC dinucleotides. The mechanisms underlying most of these mutational signatures are unknown. However, a role for the APOBEC family of cytidine deaminases is proposed.
- Published
- 2012
- Full Text
- View/download PDF
27. Mutational Processes Molding the Genomes of 21 Breast Cancers
- Author
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Nik-Zainal, S, Alexandrov, LB, Wedge, DC, van Loo, PF, Greenman, CD, Raine, K, Jones, D, Hinton, J, Marshall, J, Stebbings, LA, Menzies, A, Martin, S, Leung, Esther, Chen, Lina, Leroy, C, Ramakrishna, M, Rance, R, Lau, KW, Mudie, LJ, Varela, I, McBride, DJ, Bignell, GR, Cooke, SL, Shlien, A, Gamble, J, Whitmore, I, Maddison, M, Tarpey, PS, Davies, HR, Papaemmanuil, E, Stephens, PJ, McLaren, S, Butler, AP, Teague, JW, Jonsson, G, Garber, JE, Silver, D, Miron, P, Fatima, A, Boyault, S, Langerod, A, Tutt, A, Martens, John, Aparicio, SAJR, Borg, A, Salomon, AV, Thomas, Giju, Borresen-Dale, AL, Richardson, AL, Neuberger, MS, Futreal, PA, Campbell, PJ, Stratton, MR, Nik-Zainal, S, Alexandrov, LB, Wedge, DC, van Loo, PF, Greenman, CD, Raine, K, Jones, D, Hinton, J, Marshall, J, Stebbings, LA, Menzies, A, Martin, S, Leung, Esther, Chen, Lina, Leroy, C, Ramakrishna, M, Rance, R, Lau, KW, Mudie, LJ, Varela, I, McBride, DJ, Bignell, GR, Cooke, SL, Shlien, A, Gamble, J, Whitmore, I, Maddison, M, Tarpey, PS, Davies, HR, Papaemmanuil, E, Stephens, PJ, McLaren, S, Butler, AP, Teague, JW, Jonsson, G, Garber, JE, Silver, D, Miron, P, Fatima, A, Boyault, S, Langerod, A, Tutt, A, Martens, John, Aparicio, SAJR, Borg, A, Salomon, AV, Thomas, Giju, Borresen-Dale, AL, Richardson, AL, Neuberger, MS, Futreal, PA, Campbell, PJ, and Stratton, MR
- Abstract
All cancers carry somatic mutations. The patterns of mutation in cancer genomes reflect the DNA damage and repair processes to which cancer cells and their precursors have been exposed. To explore these mechanisms further, we generated catalogs of somatic mutation from 21 breast cancers and applied mathematical methods to extract mutational signatures of the underlying processes. Multiple distinct single- and double-nucleotide substitution signatures were discernible. Cancers with BRCA1 or BRCA2 mutations exhibited a characteristic combination of substitution mutation signatures and a distinctive profile of deletions. Complex relationships between somatic mutation prevalence and transcription were detected. A remarkable phenomenon of localized hypermutation, termed "kataegis,'' was observed. Regions of kataegis differed between cancers but usually colocalized with somatic rearrangements. Base substitutions in these regions were almost exclusively of cytosine at TpC dinucleotides. The mechanisms underlying most of these mutational signatures are unknown. However, a role for the APOBEC family of cytidine deaminases is proposed.
- Published
- 2012
28. Anatomy: A Dissection Manual and Atlas
- Author
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WHITMORE, I.
- Subjects
Research Article - Published
- 1997
29. Anatomy: A Dissection Manual and Atlas. By S. Jacob. (Pp. 180; fully illustrated in colour and black & white; f20 paperback; ISBN 0 443 04852 5.) Edinburgh: Churchill Livingstone. 1996.
- Author
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WHITMORE, I., primary
- Published
- 1997
- Full Text
- View/download PDF
30. Histochemical fibre types in striated muscle from the guinea-pig oesophagus
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Whitmore, I.
- Published
- 1978
- Full Text
- View/download PDF
31. Endoscopic visualisation of the human nasolacrimal system: an experimental study.
- Author
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Singh, A D, primary, Singh, A, additional, Whitmore, I, additional, and Taylor, E, additional
- Published
- 1992
- Full Text
- View/download PDF
32. Anatomy: A Dissection Manual and Atlas. By S. Jacob. (Pp. 180; fully illustrated in colour and black & white; £20 paperback; ISBN 0 443 04852 5.) Edinburgh: Churchill Livingstone. 1996.
- Author
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WHITMORE, I.
- Published
- 1997
- Full Text
- View/download PDF
33. Anatomy: A Dissection Manual and Atlas.By S. Jacob. (Pp. 180; fully illustrated in colour and black & white; £20 paperback; ISBN 0 443 04852 5.) Edinburgh: Churchill Livingstone. 1996.
- Author
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WHITMORE, I.
- Published
- 1997
- Full Text
- View/download PDF
34. Can AnatomicalTerms.info with its synonyms and succinct open definitions be a solution to address variations in usage of anatomical terminology?
- Author
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Gobée OP, Sulaiman S, Boaz NT, Mork AL, and Whitmore I
- Subjects
- Humans, Language, Software, Internet, Anatomy education, Terminology as Topic
- Abstract
Anatomy, the study of human structure, is foundational to medicine. Its language has a long history, with contributions from authors hailing from diverse cultures and countries, adhering to various scientific traditions, speaking different languages, and practicing medicine across a wide gamut of specialties. The resultant disparity in terms provides challenges both for students in learning and for interdisciplinary communication. We report here on a user-friendly look-up web site, "AnatomicalTerms.info" that links a Terminologica Anatomica term to alternative terms in usage: synonyms, polysemes, eponyms, homonyms, and terms in other languages. Accompanying open-source definitions are generated with the help of "Definition Machine" software, that supports creating the most concise and accessible definitions for anatomical terms, eschewing superfluous description, thus reducing cognitive load of learners of anatomy looking up terms. AnatomicalTerms.info is a readily accessible online source for both the authoritative and alternatively used terms that can accurately cross-reference and/or disambiguate anatomical structures across disciplinary and cultural divides. As such, it can serve as a useful educational and clinical resource that is also flexibly open to additions and expansion as anatomical and clinical needs dictate., (© 2024. The Author(s).)
- Published
- 2024
- Full Text
- View/download PDF
35. Germline sequencing in men with metastatic castration-resistant prostate cancer from the BARCODE2 study reveals a wide range of pathogenic variants in DNA repair genes.
- Author
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Benafif S, Jones AB, Merson S, Rageevakumar R, McGrowder E, Tyler M, Cafferty F, Hogben M, Hussain N, Bancroft E, Reid A, Wakerell S, Karlsson Q, Saunders E, Whitmore I, Sorensen KD, Dennis N, Black E, Wood A, Richards K, Lees K, Perna C, Falconer A, Mills J, Hughes R, Kumar S, Mikropoulos C, Burnett S, Attard G, Hall E, Kote-Jarai Z, and Eeles R
- Abstract
Background: The presence of germline mutations plays an increasingly important role in risk assessment and treatment of prostate cancer (PrCa). Screening for high-risk mutations in subsets of patients is becoming routine. We explore the prevalence of germline genetic mutations in men with metastatic castration-resistant prostate cancer (mCRPC) recruited to the BARCODE2 trial., Methods: The BARCODE2 trial is a two-part study investigating the response to carboplatin chemotherapy in mCRPC patients carrying a germline variant in a DNA repair gene (DRG). We report interim data from Part 1, in which participants are recruited for germline genetic testing using a customised next-generation sequencing panel consisting of 115 genes., Results: These interim results (N = 220) demonstrate a similar frequency of germline DRG variants in mCRPC patients compared with previously published data (15% detection rate). No significant clinical differences were identified between all carriers and non-carriers, though BRCA2/ATM carriers were found to have a shorter time to mCRPC diagnosis., Conclusions: Germline pathogenic/likely pathogenic (P/LP) variants in BRCA2 and ATM genes are associated with a shorter time to progression and rarer P/LP variants in other DRG genes may play a role in mCRPC. This justifies the use of routine screening of men with advanced PrCa for germline variants and supports the need for an expanded panel test., (© 2023. The Author(s).)
- Published
- 2024
- Full Text
- View/download PDF
36. Correction: Rare germline variants in DNA repair genes and the angiogenesis pathway predispose prostate cancer patients to develop metastatic disease.
- Author
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Mijuskovic M, Saunders EJ, Leongamornlert DA, Wakerell S, Whitmore I, Dadaev T, Cieza-Borrella C, Govindasami K, Brook MN, Haiman CA, Conti DV, Eeles RA, and Kote-Jarai Z
- Abstract
This article was originally published under the standard License to Publish, but has now been made available under a CC BY 4.0 license. The PDF and HTML versions of the paper have been modified accordingly.
- Published
- 2019
- Full Text
- View/download PDF
37. Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans.
- Author
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Amin Al Olama A, Dadaev T, Hazelett DJ, Li Q, Leongamornlert D, Saunders EJ, Stephens S, Cieza-Borrella C, Whitmore I, Benlloch Garcia S, Giles GG, Southey MC, Fitzgerald L, Gronberg H, Wiklund F, Aly M, Henderson BE, Schumacher F, Haiman CA, Schleutker J, Wahlfors T, Tammela TL, Nordestgaard BG, Key TJ, Travis RC, Neal DE, Donovan JL, Hamdy FC, Pharoah P, Pashayan N, Khaw KT, Stanford JL, Thibodeau SN, Mcdonnell SK, Schaid DJ, Maier C, Vogel W, Luedeke M, Herkommer K, Kibel AS, Cybulski C, Wokołorczyk D, Kluzniak W, Cannon-Albright L, Brenner H, Butterbach K, Arndt V, Park JY, Sellers T, Lin HY, Slavov C, Kaneva R, Mitev V, Batra J, Clements JA, Spurdle A, Teixeira MR, Paulo P, Maia S, Pandha H, Michael A, Kierzek A, Govindasami K, Guy M, Lophatonanon A, Muir K, Viñuela A, Brown AA, Freedman M, Conti DV, Easton D, Coetzee GA, Eeles RA, and Kote-Jarai Z
- Subjects
- Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Linkage Disequilibrium, Male, Chromosome Mapping methods, Polymorphism, Single Nucleotide, Prostatic Neoplasms genetics, White People genetics
- Abstract
Genome-wide association studies (GWAS) have identified numerous common prostate cancer (PrCa) susceptibility loci. We have fine-mapped 64 GWAS regions known at the conclusion of the iCOGS study using large-scale genotyping and imputation in 25 723 PrCa cases and 26 274 controls of European ancestry. We detected evidence for multiple independent signals at 16 regions, 12 of which contained additional newly identified significant associations. A single signal comprising a spectrum of correlated variation was observed at 39 regions; 35 of which are now described by a novel more significantly associated lead SNP, while the originally reported variant remained as the lead SNP only in 4 regions. We also confirmed two association signals in Europeans that had been previously reported only in East-Asian GWAS. Based on statistical evidence and linkage disequilibrium (LD) structure, we have curated and narrowed down the list of the most likely candidate causal variants for each region. Functional annotation using data from ENCODE filtered for PrCa cell lines and eQTL analysis demonstrated significant enrichment for overlap with bio-features within this set. By incorporating the novel risk variants identified here alongside the refined data for existing association signals, we estimate that these loci now explain ∼38.9% of the familial relative risk of PrCa, an 8.9% improvement over the previously reported GWAS tag SNPs. This suggests that a significant fraction of the heritability of PrCa may have been hidden during the discovery phase of GWAS, in particular due to the presence of multiple independent signals within the same region., (© The Author 2015. Published by Oxford University Press.)
- Published
- 2015
- Full Text
- View/download PDF
38. Whole exome sequencing of adenoid cystic carcinoma.
- Author
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Stephens PJ, Davies HR, Mitani Y, Van Loo P, Shlien A, Tarpey PS, Papaemmanuil E, Cheverton A, Bignell GR, Butler AP, Gamble J, Gamble S, Hardy C, Hinton J, Jia M, Jayakumar A, Jones D, Latimer C, McLaren S, McBride DJ, Menzies A, Mudie L, Maddison M, Raine K, Nik-Zainal S, O'Meara S, Teague JW, Varela I, Wedge DC, Whitmore I, Lippman SM, McDermott U, Stratton MR, Campbell PJ, El-Naggar AK, and Futreal PA
- Subjects
- DNA Mutational Analysis, Genes, Neoplasm, Genetic Association Studies, High-Throughput Nucleotide Sequencing, Humans, Mutation, Polymorphism, Single Nucleotide, Carcinoma, Adenoid Cystic genetics, Exome, Salivary Gland Neoplasms genetics
- Abstract
Adenoid cystic carcinoma (ACC) is a rare malignancy that can occur in multiple organ sites and is primarily found in the salivary gland. While the identification of recurrent fusions of the MYB-NFIB genes have begun to shed light on the molecular underpinnings, little else is known about the molecular genetics of this frequently fatal cancer. We have undertaken exome sequencing in a series of 24 ACC to further delineate the genetics of the disease. We identified multiple mutated genes that, combined, implicate chromatin deregulation in half of cases. Further, mutations were identified in known cancer genes, including PIK3CA, ATM, CDKN2A, SF3B1, SUFU, TSC1, and CYLD. Mutations in NOTCH1/2 were identified in 3 cases, and we identify the negative NOTCH signaling regulator, SPEN, as a new cancer gene in ACC with mutations in 5 cases. Finally, the identification of 3 likely activating mutations in the tyrosine kinase receptor FGFR2, analogous to those reported in ovarian and endometrial carcinoma, point to potential therapeutic avenues for a subset of cases.
- Published
- 2013
- Full Text
- View/download PDF
39. The genetic heterogeneity and mutational burden of engineered melanomas in zebrafish models.
- Author
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Yen J, White RM, Wedge DC, Van Loo P, de Ridder J, Capper A, Richardson J, Jones D, Raine K, Watson IR, Wu CJ, Cheng J, Martincorena I, Nik-Zainal S, Mudie L, Moreau Y, Marshall J, Ramakrishna M, Tarpey P, Shlien A, Whitmore I, Gamble S, Latimer C, Langdon E, Kaufman C, Dovey M, Taylor A, Menzies A, McLaren S, O'Meara S, Butler A, Teague J, Lister J, Chin L, Campbell P, Adams DJ, Zon LI, Patton EE, Stemple DL, and Futreal PA
- Subjects
- Animals, Animals, Genetically Modified, DNA Copy Number Variations, Disease Models, Animal, Gene Amplification, Gene Knockout Techniques, Homozygote, INDEL Mutation, Melanoma pathology, Polymorphism, Single Nucleotide, Risk Factors, Sequence Deletion, Ultraviolet Rays, Genetic Heterogeneity, Melanoma genetics, Mutation radiation effects, Zebrafish genetics
- Abstract
Background: Melanoma is the most deadly form of skin cancer. Expression of oncogenic BRAF or NRAS, which are frequently mutated in human melanomas, promote the formation of nevi but are not sufficient for tumorigenesis. Even with germline mutated p53, these engineered melanomas present with variable onset and pathology, implicating additional somatic mutations in a multi-hit tumorigenic process., Results: To decipher the genetics of these melanomas, we sequence the protein coding exons of 53 primary melanomas generated from several BRAF(V600E) or NRAS(Q61K) driven transgenic zebrafish lines. We find that engineered zebrafish melanomas show an overall low mutation burden, which has a strong, inverse association with the number of initiating germline drivers. Although tumors reveal distinct mutation spectrums, they show mostly C > T transitions without UV light exposure, and enrichment of mutations in melanogenesis, p53 and MAPK signaling. Importantly, a recurrent amplification occurring with pre-configured drivers BRAF(V600E) and p53-/- suggests a novel path of BRAF cooperativity through the protein kinase A pathway., Conclusion: This is the first analysis of a melanoma mutational landscape in the absence of UV light, where tumors manifest with remarkably low mutation burden and high heterogeneity. Genotype specific amplification of protein kinase A in cooperation with BRAF and p53 mutation suggests the involvement of melanogenesis in these tumors. This work is important for defining the spectrum of events in BRAF or NRAS driven melanoma in the absence of UV light, and for informed exploitation of models such as transgenic zebrafish to better understand mechanisms leading to human melanoma formation.
- Published
- 2013
- Full Text
- View/download PDF
40. Mutational processes molding the genomes of 21 breast cancers.
- Author
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Nik-Zainal S, Alexandrov LB, Wedge DC, Van Loo P, Greenman CD, Raine K, Jones D, Hinton J, Marshall J, Stebbings LA, Menzies A, Martin S, Leung K, Chen L, Leroy C, Ramakrishna M, Rance R, Lau KW, Mudie LJ, Varela I, McBride DJ, Bignell GR, Cooke SL, Shlien A, Gamble J, Whitmore I, Maddison M, Tarpey PS, Davies HR, Papaemmanuil E, Stephens PJ, McLaren S, Butler AP, Teague JW, Jönsson G, Garber JE, Silver D, Miron P, Fatima A, Boyault S, Langerød A, Tutt A, Martens JW, Aparicio SA, Borg Å, Salomon AV, Thomas G, Børresen-Dale AL, Richardson AL, Neuberger MS, Futreal PA, Campbell PJ, and Stratton MR
- Subjects
- APOBEC-1 Deaminase, BRCA2 Protein genetics, Cytidine Deaminase metabolism, Female, Genes, BRCA1, High-Throughput Nucleotide Sequencing, Humans, Breast Neoplasms genetics, DNA Mutational Analysis, Genome-Wide Association Study, Mutation
- Abstract
All cancers carry somatic mutations. The patterns of mutation in cancer genomes reflect the DNA damage and repair processes to which cancer cells and their precursors have been exposed. To explore these mechanisms further, we generated catalogs of somatic mutation from 21 breast cancers and applied mathematical methods to extract mutational signatures of the underlying processes. Multiple distinct single- and double-nucleotide substitution signatures were discernible. Cancers with BRCA1 or BRCA2 mutations exhibited a characteristic combination of substitution mutation signatures and a distinctive profile of deletions. Complex relationships between somatic mutation prevalence and transcription were detected. A remarkable phenomenon of localized hypermutation, termed "kataegis," was observed. Regions of kataegis differed between cancers but usually colocalized with somatic rearrangements. Base substitutions in these regions were almost exclusively of cytosine at TpC dinucleotides. The mechanisms underlying most of these mutational signatures are unknown. However, a role for the APOBEC family of cytidine deaminases is proposed., (Copyright © 2012 Elsevier Inc. All rights reserved.)
- Published
- 2012
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- View/download PDF
41. Terminologia Anatomica includes terms in English for all scientists writing in English.
- Author
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Whitmore I
- Subjects
- Anatomy, Language, Terminology as Topic
- Published
- 2009
- Full Text
- View/download PDF
42. Terminologia anatomica: new terminology for the new anatomist.
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Whitmore I
- Subjects
- Anatomy organization & administration, Humans, Societies, Medical, United States, Anatomy standards, Reference Books, Terminology as Topic
- Abstract
Over many years, anatomical terminology has been the subject of much controversy and disagreement. Previously, the International Anatomical Nomenclature Committee has been responsible for the production of six editions of Nomina Anatomica. In 1989 a new committee, the Federative Committee on Anatomical Terminology (FCAT), was created by its parent body, the International Federation of Associations of Anatomists (IFAA). FCAT has worked for 9 years and published Terminologia Anatomica (TA) in 1998. FCAT's aim has been to democratize the terminology and make it the internationally accepted, living language of anatomy. The worldwide adoption of the same terminology would eliminate national differences, which were causing extreme confusion in instances where the same structure was known by several names. The new terminology is thus the result of worldwide consultation and contains Latin and equivalent English terms. It is indexed in Latin and English and contains an index of eponyms in order to find the correct non-eponymous term. The future goal of FCAT is to continue to improve the terminology-new structures are described, different terms come into use, and the terminology needs to be expanded to include terms used by clinicians for structures that currently do not appear in the list. Future versions of the terminology must accommodate the needs of all who use it, both in the clinical and scientific worlds.
- Published
- 1999
- Full Text
- View/download PDF
43. Career progress of temporary lecturers in anatomy: a surgical success story.
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Willan PL, Whitmore I, and Humpherson JR
- Subjects
- Female, Humans, Male, Surveys and Questionnaires, United Kingdom, Anatomy education, Career Mobility, Education, Medical, Graduate trends, General Surgery, Teaching
- Abstract
A questionnaire concerning career progress was sent to 159 previous holders of temporary lecturer posts in anatomy (TLAs) at the University of Manchester (UK) between 1975 and 1992. Replies were received from 123 TLAs, of whom 90% were male and 71% had achieved Fellowship(s) of a Royal College of Surgeons. Of the 86 respondents who had reached career appointments, 72% held surgical posts, 16% were in general practice, 6% were in nonsurgical hospital specialties, and 6% in nonclinical careers. The duration of training for the surgical specialties overall had been 12 years. Postgraduate diplomas and degrees had been obtained by 93% of career post holders. Most respondents (87%) had found the posts to be useful for their ongoing careers, citing improved communication skills and teaching. The positive values of temporary lecturer posts in anatomy are discussed in relation to the declining numbers of medically qualified anatomists, and the implications of changes in postgraduate surgical training in the UK are highlighted.
- Published
- 1998
- Full Text
- View/download PDF
44. The ultrastructure of oesophageal striated muscle in the guinea-pig and marmoset.
- Author
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Whitmore I
- Subjects
- Animals, Collagen analysis, Mitochondria, Muscle ultrastructure, Motor Endplate ultrastructure, Callitrichinae anatomy & histology, Esophagus ultrastructure, Guinea Pigs anatomy & histology, Muscles ultrastructure
- Abstract
The ultrastructural characteristics of oesophageal striated muscle from guinea-pig and marmoset have been examined using transmission electron microscopy and compared with ultrastructural features of skeletal muscle. The findings show that, although similar to skeletal muscle, oesophageal striated muscle exhibits important differences in the arrangement of its muscle fibres and their motor innervation. It was also found impossible to classify oesophageal striated muscle according to the usual ultrastructural criteria since its motor endplates bore a greater resemblance to those of intrafusal skeletal muscle fibres. The consideration of these differences in conjunction with characteristics revealed elsewhere by other techniques confirms the unique nature of oesophageal striated muscle.
- Published
- 1983
- Full Text
- View/download PDF
45. Oesophageal striated muscle arrangement and histochemical fibre types in guinea-pig, marmoset, macaque and man.
- Author
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Whitmore I
- Subjects
- Adenosine Triphosphatases analysis, Aged, Animals, Callitrichinae, Esophagus enzymology, Female, Guinea Pigs, Histocytochemistry, Humans, Macaca, Male, Middle Aged, Muscles enzymology, Myosins analysis, Phosphorylases analysis, Succinate Dehydrogenase analysis, Esophagus anatomy & histology, Muscles anatomy & histology
- Abstract
The muscularis externa of the oesophagus was examined histologically and histochemically in the guinea-pig, marmoset, and man. It was found that the transition from striated muscle to smooth occurred more gradually and at a more proximal level in the primates than in the guinea-pig. In addition, minor differences in fibre lay-out were observed between the four species examined. Guinea-pig oesophageal striated muscle was all found to be of one type, 'fast twitch' oxidative and glycolytic. The marmoset oesophageal muscle, also unitypical, was 'slow twitch' and oxidative. Both the macaque and man each revealed two types: 'slow twitch' oxidative glycolytic and 'fast twitch' oxidative glycolytic, and concluded that these differences represent species variation.
- Published
- 1982
46. A histological and histochemical study of the cricopharyngeus muscle in the guinea-pig.
- Author
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Bonington A, Whitmore I, and Mahon M
- Subjects
- Adenosine Triphosphatases metabolism, Animals, Female, Guinea Pigs, Histocytochemistry, Male, Pharyngeal Muscles enzymology, Muscles anatomy & histology, Pharyngeal Muscles anatomy & histology
- Abstract
Histological, histochemical and morphometric methods were used to investigate the cricopharyngeus muscle in the guinea-pig and to compare it with the extensor digitorum longus and soleus muscles. The cricopharyngeus comprised uniformly small diameter fibres otherwise similar in appearance to those found in skeletal limb muscles. Several fibre type profiles were distinguished within the cricopharyngeus, all of which had homogeneously high oxidative activity, whilst the majority were histochemically fast (Type II). Muscle spindles were not observed in the cricopharyngeus muscles. Compared to the surrounding musculature the cricopharyngeus has a higher oxidative activity and may thus be suitably adapted for the maintenance of tonic contraction, forming a part of the upper oesophageal sphincter.
- Published
- 1987
47. A comparison of the mechanical properties of oesophageal striated muscle with skeletal muscles of the guinea pig.
- Author
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Wareham AC and Whitmore I
- Subjects
- Adenosine Triphosphatases metabolism, Animals, Biomechanical Phenomena, In Vitro Techniques, Leg, Male, Muscle Contraction, Muscles enzymology, Time Factors, Toes, Esophagus physiology, Guinea Pigs physiology, Muscles physiology
- Abstract
An in vitro comparative study has been made of the contractile properties of guinea pig oesophageal striated muscle with fast twitch (extensor digitorum longus) and slow twitch (soleus) muscles. Histochemical analysis of sections showed oesophageal fibres to react in a manner typical of fast twitch muscles. Isometric measurements made at 23 and 37 degrees C indicated that oesophageal striated muscle contracts at speeds similar to, but still significantly faster than soleus. Isotonic measurements of oesophageal preparations made at 23 degrees C gave an intrinsic speed of shortening and an a/Po value derived from Hill's equation, comparable with that obtained for soleus. The reason for the contradiction between the results from histochemistry, and the results from isometric and isotonic contractions are not apparent, but may be due to differences in fibre arrangement between oesophagus and the two skeletal muscles.
- Published
- 1982
- Full Text
- View/download PDF
48. A quantitative study of the histochemical and morphometric characteristics of the human cricopharyngeus muscle.
- Author
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Brownlow H, Whitmore I, and Willan PL
- Subjects
- Adolescent, Adult, Aged, Aged, 80 and over, Female, Histocytochemistry, Humans, Male, Middle Aged, Pharyngeal Muscles analysis, Thigh anatomy & histology, Muscles anatomy & histology, Pharyngeal Muscles anatomy & histology
- Abstract
Samples of human cricopharyngeus muscles obtained at postmortem were assessed for fibre type composition and fibre size. Fibre type was determined using serial cryostat sections exposed to several histochemical reactions; narrow fibre diameter and fibre area were measured from photomicrographs using a digitiser interfaced to a microcomputer. Results were compared with values from samples of vastus lateralis obtained from the same subjects. Cricopharyngeus muscle, in comparison with vastus lateralis, contained significantly more oxidative fibres but fewer glycolytic fibres and significantly more Type I fibres but fewer Type IIB. Cricopharyngeal fibres were significantly smaller than the fibres in vastus lateralis and in neither muscle were fibre sizes normally distributed. In each muscle most Type I fibres were oxidative, and the ratio of oxidative: glycolytic fibres was similar for Type IIA and IIB fibres. The fibre type proportions and fibre sizes in cricopharyngeus did not vary significantly with age or between males and females. The composition of cricopharyngeus--mostly Type I oxidative fibres and few Type II glycolytic fibres--correlated well with the functions of sustained tonicity to prevent aerophagia and occasional forceful contraction during deglutition.
- Published
- 1989
49. A histological and histochemical study of the cricopharyngeus muscle in man.
- Author
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Bonington A, Mahon M, and Whitmore I
- Subjects
- Adenosine Triphosphatases metabolism, Adult, Autopsy, Female, Histocytochemistry, Humans, Hydrogen-Ion Concentration, Male, Middle Aged, Muscles enzymology, Pharyngeal Muscles enzymology, Thigh anatomy & histology, Larynx anatomy & histology, Muscles anatomy & histology, Pharyngeal Muscles anatomy & histology
- Abstract
The human cricopharyngeus muscle was investigated by dissection and by histological, histochemical and morphometric methods. Muscle fibres in the cricopharyngeus were found to be similar in appearance to those of the lateral part of the quadriceps femoris, although they were generally much smaller and more variable in size. The endomysial connective tissue was markedly increased in the cricopharyngeus and muscle spindles were not found. Certain features normally considered to be pathological were also noted in the cricopharyngeus muscles. The fibre type population consisted mainly of histochemically 'slow-twitch' richly oxidative fibres. This finding is consistent with the proposed function of this muscle in its sphincteric role in deglutition, vomiting, eructation and in the control of aerophagia.
- Published
- 1988
50. A quantitative investigation into some ultrastructural characteristics of guinea-pig oesophageal striated muscle.
- Author
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Whitmore I and Notman JA
- Subjects
- Animals, Guinea Pigs, Microscopy, Electron, Motor Endplate ultrastructure, Esophagus anatomy & histology, Muscles ultrastructure
- Abstract
Electron micrographs of guinea-pig oesophageal striated muscle have been subjected to quantitative assessment. The results show that whereas the motor end-plates are considerably simpler than those of control hindlimb muscles, the Z-line width and M-line bridges are those of fast-twitch, oxidative and glycolytic fibres. Guinea-pig oesophageal striated muscle continues to defy classification into the normally accepted subtypes for skeletal muscle and should thus be considered as an example of 'visceral striated muscle'.
- Published
- 1987
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