Demystifying the Mystery of Genes: A Case Report on Constitutional Mismatch Repair Deficiency.

Autor: Siju, Jose¹ (AUTHOR), Sahu, Arpita¹ (AUTHOR) drarpitasahu@gmail.com, Bhattacharya, Kajari¹ (AUTHOR), Prasad, Maya² (AUTHOR), Sarin, Rajiv³ (AUTHOR), Gupta, Tejpal³ (AUTHOR)

Publikováno v: Indian Journal of Radiology & Imaging. Jul2024, Vol. 34 Issue 3, p562-565. 4p.

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‘Quality in, quality out’, a stepwise approach to evidence-based medicine for rare diseases promoted by multiple endocrine neoplasia type 1

Autor: Dirk-Jan van Beek, Rachel S van Leeuwaarde, Carolina R C Pieterman, Menno R Vriens, Gerlof D Valk, Bisschop P H, Borel Rinkes I H M, Dekkers O M, Drent M L, Havekes B, de Herder W W, Hermus A R M M, van der Horst-Schrivers A N A, de Jong J, Vasen H F A, Zonnenberg B A

Publikováno v: Endocrine Connections, Vol 7, Iss 11, Pp R260-R274 (2018)
Endocrine Connections, 7(11), R260-R274. Bioscientifica Ltd
Endocrine Connections, 7(11), R260-R274
Endocrine Connections

Rare diseases pose specific challenges in the field of medical research to provide physicians with evidence-based guidelines derived from studies with sufficient quality. An example of these rare diseases is multiple endocrine neoplasia type 1 (MEN1)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77f550dcabb37c6644ca85aedc568dbe
https://ec.bioscientifica.com/view/journals/ec/7/11/EC-18-0359.xml

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

Autor: Lawrenson, Kate, Kar, Siddhartha, McCue, Karen, Kuchenbaeker, Karoline, Michailidou, Kyriaki, Tyrer, Jonathan, Beesley, Jonathan, Ramus, Susan J., Li, Qiyuan, Delgado, Melissa K., Lee, Janet M., Aittomäki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K., Arver, Brita, Bandera, Elisa V., Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Beckmann, Matthias W., Benitez, Javier, Berchuck, Andrew, Bisogna, Maria, Bjorge, Line, Blomqvist, Carl, Blot, William, Bogdanova, Natalia, Bojesen, Anders, Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Børresen-Dale, Anne Lise, Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Bruinsma, Fiona, Brunet, Joan, Buhari, Shaik Ahmad, Burwinkel, Barbara, Butzow, Ralf, Buys, Saundra S., Cai, Qiuyin, Caldes, Trinidad, Campbell, Ian, Canniotto, Rikki, Chang-Claude, Jenny, Chiquette, Jocelyne, Choi, Ji Yeob, Claes, Kathleen B M, Cook, Linda S., Cox, Angela, Cramer, Daniel W., Cross, Simon S., Cybulski, Cezary, Czene, Kamila, Daly, Mary B., Damiola, Francesca, Dansonka-Mieszkowska, Agnieszka, Darabi, Hatef, Dennis, Joe, Devilee, Peter, Diez, Orland, Doherty, Jennifer A., Domchek, Susan M., Dorfling, Cecilia M., Dörk, Thilo, Dumont, Martine, Ehrencrona, Hans, Ejlertsen, Bent, Ellis, Steve, Engel, Christoph, Lee, Eunjung, Evans, D. Gareth, Fasching, Peter A., Feliubadalo, Lidia, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Foretova, Lenka, Fostira, Florentia, Foulkes, William D., Fridley, Brooke L., Friedman, Eitan, Frost, Debra, Gambino, Gaetana, Ganz, Patricia A., Garber, Judy, García-Closas, Montserrat, Gentry-Maharaj, Aleksandra, Ghoussaini, Maya, Giles, Graham G., Glasspool, Rosalind, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Goode, Ellen L., Goodman, Marc T., Greene, Mark H., Gronwald, Jacek, Guénel, Pascal, Haiman, Christopher A., Hall, Per, Hallberg, Emily, Hamann, Ute, Hansen, Thomas V O, Harrington, Patricia A., Hartman, Mikael, Hassan, Norhashimah, Healey, Sue, Heitz, Florian, Herzog, Josef, Høgdall, Estrid, Høgdall, Claus K., Hogervorst, Frans B L, Hollestelle, Antoinette, Hopper, John L., Hulick, Peter J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine, Ito, Hidemi, Jakubowska, Anna, Janavicius, Ramunas, Jensen, Allan, John, Esther M., Johnson, Nichola, Kabisch, Maria, Kang, Daehee, Kapuscinski, Miroslav, Karlan, Beth Y., Khan, Sofia, Kiemeney, Lambertus A., Kjaer, Susanne Kruger, Knight, Julia A., Konstantopoulou, Irene, Kosma, Veli Matti, Kristensen, Vessela, Kupryjanczyk, Jolanta, Kwong, Ava, De La Hoya, Miguel, Laitman, Yael, Lambrechts, Diether, Le, Nhu, De Leeneer, Kim, Lester, Jenny, Levine, Douglas A., Li, Jingmei, Lindblom, Annika, Long, Jirong, Lophatananon, Artitaya, Loud, Jennifer T., Lu, Karen, Lubinski, Jan, Mannermaa, Arto, Manoukian, Siranoush, Le Marchand, Loic, Margolin, Sara, Marme, Frederik, Massuger, Leon F A G, Matsuo, Keitaro, Mazoyer, Sylvie, McGuffog, Lesley, McLean, Catriona, McNeish, Iain, Meindl, Alfons, Menon, Usha, Mensenkamp, Arjen R., Milne, Roger L., Montagna, Marco, Moysich, Kirsten B., Muir, Kenneth, Mulligan, Anna Marie, Nathanson, Katherine L., Ness, Roberta B., Neuhausen, Susan L., Nevanlinna, Heli, Nord, Silje, Nussbaum, Robert L., Odunsi, Kunle, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olson, Janet E., Olswold, Curtis, O'Malley, David, Orlow, Irene, Orr, Nick, Osorio, Ana, Park, Sue Kyung, Pearce, Celeste L., Pejovic, Tanja, Peterlongo, Paolo, Pfeiler, Georg, Phelan, Catherine M., Poole, Elizabeth M., Pylkäs, Katri, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad Usman, Rennert, Gad, Rhenius, Valerie, Rhiem, Kerstin, Risch, Harvey A., Rodriguez, Gus, Rossing, Mary Anne, Rudolph, Anja, Salvesen, Helga B., Sangrajrang, Suleeporn, Sawyer, Elinor J., Schildkraut, Joellen M., Schmidt, Marjanka K., Schmutzler, Rita K., Sellers, Thomas A., Seynaeve, Caroline, Shah, Mitul, Shen, Chen Yang, Shu, Xiao Ou, Sieh, Weiva, Singer, Christian F., Sinilnikova, Olga M., Slager, Susan, Song, Honglin, Soucy, Penny, Southey, Melissa C., Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Sutter, Christian, Swerdlow, Anthony, Tchatchou, Sandrine, Teixeira, Manuel R., Teo, Soo H., Terry, Kathryn L., Terry, Mary Beth, Thomassen, Mads, Tibiletti, Maria Grazia, Tihomirova, Laima, Tognazzo, Silvia, Toland, Amanda Ewart, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Tseng, Chiu Chen, Tung, Nadine, Tworoger, Shelley S., Vachon, Celine, Van Den Ouweland, Ans M W, Van Doorn, Helena C., Van Rensburg, Elizabeth J., Van't Veer, Laura J., Vanderstichele, Adriaan, Vergote, Ignace, Vijai, Joseph, Wang, Qin, Wang-Gohrke, Shan, Weitzel, Jeffrey N., Wentzensen, Nicolas, Whittemore, Alice S., Wildiers, Hans, Winqvist, Robert, Wu, Anna H., Yannoukakos, Drakoulis, Yoon, Sook Yee, Yu, Jyh Cherng, Zheng, Wei, Zheng, Ying, Khanna, Kum Kum, Simard, Jacques, Monteiro, Alvaro N., French, Juliet D., Couch, Fergus J., Freedman, Matthew L., Easton, Douglas F., Dunning, Alison M., Pharoah, Paul D., Edwards, Stacey L., Chenevix-Trench, Georgia, Antoniou, Antonis C., Gayther, Simon A., Bowtell, David, DeFazio, Anna, Webb, Penny, Collonge-Rame, Marie Agnès, Damette, Alexandre, Barouk-Simonet, Emmanuelle, Bonnet, Françoise, Bubien, Virginie, Sevenet, Nicolas, Longy, Michel, Berthet, Pascaline, Vaur, Dominique, Castera, Laurent, Ferrer, Sandra Fert, Bignon, Yves Jean, Uhrhammer, Nancy, Coron, Fanny, Faivre, Laurence, Baurand, Amandine, Jacquot, Caroline, Bertolone, Geoffrey, Lizard, Sarab, Leroux, Dominique, Dreyfus, Hélène, Rebischung, Christine, Peysselon, Magalie, Peyrat, Jean Philippe, Fournier, Joëlle, Révillion, Françoise, Adenis, Claude, Vénat-Bouvet, Laurence, Léone, Mélanie, Boutry-Kryza, Nadia, Calender, Alain, Giraud, Sophie, Verny-Pierre, Carole, Lasset, Christine, Bonadona, Valérie, Barjhoux, Laure, Sobol, Hagay, Bourdon, Violaine, Noguchi, Tetsuro, Remenieras, Audrey, Coupier, Isabelle, Pujol, Pascal, Sokolowska, Johanna, Bronner, Myriam, Delnatte, Capucine, Bézieau, Stéphane, Mari, Véronique, Gauthier-Villars, Marion, Buecher, Bruno, Rouleau, Etienne, Golmard, Lisa, Moncoutier, Virginie, Belotti, Muriel, De Pauw, Antoine, Elan, Camille, Fourme, Emmanuelle, Birot, Anne Marie, Saule, Claire, Laurent, Maïté, Houdayer, Claude, Lesueur, Fabienne, Mebirouk, Noura, Coulet, Florence, Colas, Chrystelle, Soubrier, Florent, Warcoin, Mathilde, Prieur, Fabienne, Lebrun, Marine, Kientz, Caroline, Muller, Danièle, Fricker, Jean Pierre, Toulas, Christine, Guimbaud, Rosine, Gladieff, Laurence, Feillel, Viviane, Mortemousque, Isabelle, Bressac-De-Paillerets, Brigitte, Caron, Olivier, Guillaud-Bataille, Marine, Gregory, Helen, Miedzybrodzka, Zosia, Morrison, Patrick J., Donaldson, Alan, Rogers, Mark T., Kennedy, M. John, Porteous, Mary E., Brady, Angela, Barwell, Julian, Foo, Claire, Lalloo, Fiona, Side, Lucy E., Eason, Jacqueline, Henderson, Alex, Walker, Lisa, Cook, Jackie, Snape, Katie, Murray, Alex, McCann, Emma, Rookus, M. A., Van Leeuwen, F. E., Van Der Kolk, L. E., Schmidt, M. K., Russell, N. S., De Lange, J. L., Wijnands, R., Collée, J. M., Hooning, M. J., Seynaeve, C., Van Deurzen, C. H M, Obdeijn, I. M., Van Asperen, C. J., Tollenaar, R. A E M, Van Cronenburg, T. C T E F, Kets, C. M., Ausems, M. G E M, Van Der Pol, C. C., Van Os, T. A M, Waisfisz, Q., Meijers-Heijboer, H. E J, Gómez-Garcia, E. B., Oosterwijk, J. C., Mourits, M. J., De Bock, G. H., Vasen, H. F., Siesling, S., Verloop, J., Overbeek, L. I H, Fox, Stephen, Kirk, Judy, Lindeman, Geoff, Price, Melanie

Publikováno v: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Nature Communications, 7
NATURE COMMUNICATIONS
Nature Communications
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Nature Communications, 7:12675. Nature Publishing Group
Repisalud
Instituto de Salud Carlos III (ISCIII)
Lawrenson, K, Kar, S, McCue, K, Kuchenbaeker, K, Michailidou, K, Tyrer, J, Beesley, J, Ramus, S J, Li, Q, Delgado, M K, Lee, J M, Aittomäki, K, Andrulis, I L, Anton-Culver, H, Arndt, V, Arun, B K, Arver, B, Bandera, E V, Barile, M, Barkardottir, R B, Barrowdale, D, Beckmann, M W, Benitez, J, Berchuck, A, Bisogna, M, Bjorge, L, Blomqvist, C, Blot, W, Bogdanova, N, Bojesen, A, Bojesen, S E, Bolla, M K, Bonanni, B, Børresen-Dale, A L, Brauch, H, Brennan, P, Brenner, H, Bruinsma, F, Brunet, J, Buhari, S A, Burwinkel, B, Butzow, R, Buys, S S, Cai, Q, Caldes, T, Campbell, I, Canniotto, R, Chang-Claude, J, Chiquette, J, Choi, J Y, Claes, K B M, Cook, L S, Cox, A, Cramer, D W, Cross, S S, Cybulski, C, Czene, K, Daly, M B, Damiola, F, Dansonka-Mieszkowska, A, Darabi, H, Dennis, J, Devilee, P, Diez, O, Doherty, J A, Domchek, S M, Dorfling, C M, Dörk, T, Dumont, M, Ehrencrona, H, Ejlertsen, B, Ellis, S, Engel, C, Lee, E, Evans, D G, Fasching, P A, Feliubadalo, L, Figueroa, J, Flesch-Janys, D, Fletcher, O, Flyger, H, Foretova, L, Fostira, F, Foulkes, W D, Fridley, B L, Friedman, E, Frost, D, Gambino, G, Ganz, P A, Garber, J, García-Closas, M, Gentry-Maharaj, A, Ghoussaini, M, Giles, G G, Glasspool, R, Godwin, A K, Goldberg, M S, Goldgar, D E, González-Neira, A, Goode, E L, Goodman, M T, Greene, M H, Gronwald, J, Guénel, P, Haiman, C A, Hall, P, Hallberg, E, Hamann, U, Hansen, T V O, Harrington, P A, Hartman, M, Hassan, N, Healey, S, Heitz, F, Herzog, J, Høgdall, E, Høgdall, C K, Hogervorst, F B L, Hollestelle, A, Hopper, J L, Hulick, P J, Huzarski, T, Imyanitov, E N, Isaacs, C, Ito, H, Jakubowska, A, Janavicius, R, Jensen, A, John, E M, Johnson, N, Kabisch, M, Kang, D, Kapuscinski, M, Karlan, B Y, Khan, S, Kiemeney, L A, Kjaer, S K, Knight, J A, Konstantopoulou, I, Kosma, V M, Kristensen, V, Kupryjanczyk, J, Kwong, A, De La Hoya, M, Laitman, Y, Lambrechts, D, Le, N, De Leeneer, K, Lester, J, Levine, D A, Li, J, Lindblom, A, Long, J, Lophatananon, A, Loud, J T, Lu, K, Lubinski, J, Mannermaa, A, Manoukian, S, Le Marchand, L, Margolin, S, Marme, F, Massuger, L F A G, Matsuo, K, Mazoyer, S, McGuffog, L, McLean, C, McNeish, I, Meindl, A, Menon, U, Mensenkamp, A R, Milne, R L, Montagna, M, Moysich, K B, Muir, K, Mulligan, A M, Nathanson, K L, Ness, R B, Neuhausen, S L, Nevanlinna, H, Nord, S, Nussbaum, R L, Odunsi, K, Offit, K, Olah, E, Olopade, O I, Olson, J E, Olswold, C, O'Malley, D, Orlow, I, Orr, N, Osorio, A, Park, S K, Pearce, C L, Pejovic, T, Peterlongo, P, Pfeiler, G, Phelan, C M, Poole, E M, Pylkäs, K, Radice, P, Rantala, J, Rashid, M U, Rennert, G, Rhenius, V, Rhiem, K, Risch, H A, Rodriguez, G, Rossing, M A, Rudolph, A, Salvesen, H B, Sangrajrang, S, Sawyer, E J, Schildkraut, J M, Schmidt, M K, Schmutzler, R K, Sellers, T A, Seynaeve, C, Shah, M, Shen, C Y, Shu, X O, Sieh, W, Singer, C F, Sinilnikova, O M, Slager, S, Song, H, Soucy, P, Southey, M C, Stenmark-Askmalm, M, Stoppa-Lyonnet, D, Sutter, C, Swerdlow, A, Tchatchou, S, Teixeira, M R, Teo, S H, Terry, K L, Terry, M B, Thomassen, M, Tibiletti, M G, Tihomirova, L, Tognazzo, S, Toland, A E, Tomlinson, I, Torres, D, Truong, T, Tseng, C C, Tung, N, Tworoger, S S, Vachon, C, Van Den Ouweland, A M W, Van Doorn, H C, Van Rensburg, E J, Van't Veer, L J, Vanderstichele, A, Vergote, I, Vijai, J, Wang, Q, Wang-Gohrke, S, Weitzel, J N, Wentzensen, N, Whittemore, A S, Wildiers, H, Winqvist, R, Wu, A H, Yannoukakos, D, Yoon, S Y, Yu, J C, Zheng, W, Zheng, Y, Khanna, K K, Simard, J, Monteiro, A N, French, J D, Couch, F J, Freedman, M L, Easton, D F, Dunning, A M, Pharoah, P D, Edwards, S L, Chenevix-Trench, G, Antoniou, A C, Gayther, S A, Bowtell, D, DeFazio, A, Webb, P, Collonge-Rame, M A, Damette, A, Barouk-Simonet, E, Bonnet, F, Bubien, V, Sevenet, N, Longy, M, Berthet, P, Vaur, D, Castera, L, Ferrer, S F, Bignon, Y J, Uhrhammer, N, Coron, F, Faivre, L, Baurand, A, Jacquot, C, Bertolone, G, Lizard, S, Leroux, D, Dreyfus, H, Rebischung, C, Peysselon, M, Peyrat, J P, Fournier, J, Révillion, F, Adenis, C, Vénat-Bouvet, L, Léone, M, Boutry-Kryza, N, Calender, A, Giraud, S, Verny-Pierre, C, Lasset, C, Bonadona, V, Barjhoux, L, Sobol, H, Bourdon, V, Noguchi, T, Remenieras, A, Coupier, I, Pujol, P, Sokolowska, J, Bronner, M, Delnatte, C, Bézieau, S, Mari, V, Gauthier-Villars, M, Buecher, B, Rouleau, E, Golmard, L, Moncoutier, V, Belotti, M, De Pauw, A, Elan, C, Fourme, E, Birot, A M, Saule, C, Laurent, M, Houdayer, C, Lesueur, F, Mebirouk, N, Coulet, F, Colas, C, Soubrier, F, Warcoin, M, Prieur, F, Lebrun, M, Kientz, C, Muller, D, Fricker, J P, Toulas, C, Guimbaud, R, Gladieff, L, Feillel, V, Mortemousque, I, Bressac-De-Paillerets, B, Caron, O, Guillaud-Bataille, M, Gregory, H, Miedzybrodzka, Z, Morrison, P J, Donaldson, A, Rogers, M T, Kennedy, M J, Porteous, M E, Brady, A, Barwell, J, Foo, C, Lalloo, F, Side, L E, Eason, J, Henderson, A, Walker, L, Cook, J, Snape, K, Murray, A, McCann, E, Rookus, M A, Van Leeuwen, F E, Van Der Kolk, L E, Schmidt, M K, Russell, N S, De Lange, J L, Wijnands, R, Collée, J M, Hooning, M J, Seynaeve, C, Van Deurzen, C H M, Obdeijn, I M, Van Asperen, C J, Tollenaar, R A E M, Van Cronenburg, T C T E F, Kets, C M, Ausems, M G E M, Van Der Pol, C C, Van Os, T A M, Waisfisz, Q, Meijers-Heijboer, H E J, Gómez-Garcia, E B, Oosterwijk, J C, Mourits, M J, De Bock, G H, Vasen, H F, Siesling, S, Verloop, J, Overbeek, L I H, Fox, S, Kirk, J, Lindeman, G & Price, M 2016, ' Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus ', Nature Communications, vol. 7, 12675 . https://doi.org/10.1038/ncomms12675
Nature Communications, Vol 7, Iss 1, Pp 1-22 (2016)

A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs as

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::999c4e4a7dbf478ccaa49e236ed15293
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-307763

Review article: the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

Autor: VASEN, H. F. A.^1,2 hfavasen@stoet.nl

Publikováno v: Alimentary Pharmacology & Therapeutics. Dec2007 Supplement 2, Vol. 26, p113-126. 14p. 2 Diagrams, 6 Charts.