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Catalogo dei prodotti della ricerca
TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ∼480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10 -7), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10 -8) and BRCA1 mutation carrier (P = 1.1 × 10 -5) breast cancers and altered promoter assay signal. The minor allele at the peak 2 SNP rs7705526 associates with longer telomeres (P = 2.3 × 10 -14), higher risk of low-malignant-potential ovarian cancer (P = 1.3 × 10 -15) and greater promoter activity. The minor alleles at the peak 3 SNPs rs10069690 and rs2242652 increase ER-negative (P = 1.2 × 10 -12) and BRCA1 mutation carrier (P = 1.6 × 10 -14) breast and invasive ovarian (P = 1.3 × 10 -11) cancer risks but not via altered telomere length. The cancer risk alleles of rs2242652 and rs10069690, respectively, increase silencing and generate a truncated TERT splice variant.
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer / Stig E., Bojesen; Karen A., Pooley; Sharon E., Johnatty; Jonathan, Beesley; Kyriaki, Michailidou; Jonathan P., Tyrer; Stacey L., Edwards; Hilda A., Pickett; Chen Yang, Shen; Chanel E., Smart; Kristine M., Hillman; Phuong L., Mai; Kate, Lawrenson; Michael D., Stutz; Yi, Lu; Rod, Karevan; Nicholas, Woods; Rebecca L., Johnston; Juliet D., French; Xiaoqing, Chen; Maren, Weischer; Sune F., Nielsen; Melanie J., Maranian; Maya, Ghoussaini; Shahana, Ahmed; Caroline, Baynes; Manjeet K., Bolla; Qin, Wang; Joe, Dennis; Lesley, Mcguffog; Daniel, Barrowdale; Andrew, Lee; Catherine S., Healey; Michael, Lush; Daniel C., Tessier; Daniel, Vincent; Françis, Bacot; Ignace, Vergote; Sandrina, Lambrechts; Evelyn, Despierre; Harvey A., Risch; Anna Gonzalez, Neira; Mary Anne, Rossing; Guillermo, Pita; Jennifer A., Doherty; Nuria, Alvarez; Melissa C., Larson; Brooke L., Fridley; Nils, Schoof; Jenny Chang, Claude; Mine S., Cicek; Julian, Peto; Kimberly R., Kalli; Annegien, Broeks; Sebastian M., Armasu; Marjanka K., Schmidt; Linde M., Braaf; Boris, Winterhoff; Heli, Nevanlinna; Gottfried E., Konecny; Diether, Lambrechts; Lisa, Rogmann; Pascal, Guenel; Attila, Teoman; Roger L., Milne; Joaquin J., Garcia; Angela, Cox; Vijayalakshmi, Shridhar; Barbara, Burwinkel; Frederik, Marme; Rebecca, Hein; Elinor J., Sawyer; Christopher A., Haiman; Shan Wang, Gohrke; Irene L., Andrulis; Kirsten B., Moysich; John L., Hopper; Kunle, Odunsi; Annika, Lindblom; Graham G., Giles; Hermann, Brenner; Jacques, Simard; Galina, Lurie; Peter A., Fasching; Michael E., Carney; Paolo, Radice; Lynne R., Wilkens; Anthony, Swerdlow; Marc T., Goodman; Hiltrud, Brauch; Montserrat Garcia, Closas; Peter, Hillemanns; Robert, Winqvist; Matthias, Durst; Peter, Devilee; Ingo, Runnebaum; Anna, Jakubowska; Jan, Lubinski; Arto, Mannermaa; Ralf, Butzow; Natalia V., Bogdanova; Thilo, Dork; Liisa M., Pelttari; Wei, Zheng; Arto, Leminen; Hoda Anton, Culver; Clareann H., Bunker; Vessela, Kristensen; Roberta B., Ness; Kenneth, Muir; Robert, Edwards; Alfons, Meindl; Florian, Heitz; Keitaro, Matsuo; Andreas Du, Bois; Anna H., Wu; Philipp, Harter; Soo Hwang, Teo; Ira, Schwaab; Xiao Ou, Shu; William, Blot; Satoyo, Hosono; Daehee, Kang; Toru, Nakanishi; Mikael, Hartman; Yasushi, Yatabe; Ute, Hamann; Beth Y., Karlan; Suleeporn, Sangrajrang; Susanne Krüger, Kjaer; Valerie, Gaborieau; Allan, Jensen; Diana, Eccles; E., Hogdall; Chen Yang, Shen; Judith, Brown; Yin Ling, Woo; Mitul, Shah; Mat Adenan Noor, Azmi; Robert, Luben; Siti Zawiah, Omar; Kamila, Czene; Robert A., Vierkant; G., Nordestgaard Bo; Henrik, Flyger; Celine, Vachon; Janet E., Olson; Xianshu, Wang; Douglas A., Levine; Anja, Rudolph; Rachel Palmieri, Weber; Dieter Flesch, Janys; Edwin, Iversen; Stefan, Nickels; Joellen M., Schildkraut; Isabel Dos Santos, Silva; Daniel W., Cramer; Lorna, Gibson; Kathryn L., Terry; Olivia, Fletcher; Allison F., Vitonis; C., Ellen Van Der Schoot; Elizabeth M., Poole; Frans B. l., Hogervorst; Shelley S., Tworoger; Jianjun, Liu; Elisa V., Bandera; Jingmei, Li; Sara H., Olson; Keith, Humphreys; Irene, Orlow; Carl, Blomqvist; Lorna Rodriguez, Rodriguez; Kristiina, Aittomaki; Helga B., Salvesen; Taru A., Muranen; Elisabeth, Wik; Barbara, Brouwers; Camilla, Krakstad; Els, Wauters; Mari K., Halle; Hans, Wildiers; Lambertus A., Kiemeney; Claire, Mulot; Katja K., Aben; Pierre Laurent, Puig; Anne Mvan, Altena; Therese, Truong; Leon F. a. g., Massuger; Javier, Benitez; Tanja, Pejovic; Jose Ignacio Arias, Perez; Maureen, Hoatlin; M., Pilar Zamora; Linda S., Cook; Sabapathy P., Balasubramanian; Linda E., Kelemen; Andreas, Schneeweiss; Nhu D., Le; Christof, Sohn; Angela Brooks, Wilson; Ian, Tomlinson; Michael J., Kerin; Nicola, Miller; Cezary, Cybulski; Brian E., Henderson; Janusz, Menkiszak; Fredrick, Schumacher; Nicolas, Wentzensen; Loic Le, Marchand; Hannah P., Yang; Anna Marie, Mulligan; Gord, Glendon; Svend Aage, Engelholm; Julia A., Knight; C. k., Hogdall; Carmel, Apicella; Martin, Gore; Helen, Tsimiklis; Honglin, Song; Melissa C., Southey; Agnes, Jager; A. m. w., Den Ouweland; Robert, Brown; John W. m., Martens; James M., Flanagan; Mieke, Kriege; James, Paul; Sara, Margolin; Nadeem, Siddiqui; Gianluca, Severi; Alice S., Whittemore; Laura, Baglietto; Valerie, Mcguire; Christa, Stegmaier; Weiva, Sieh; Heiko, Muller; Volker, Arndt; France, Labreche; Yu Tang, Gao; Mark S., Goldberg; Gong, Yang; Martine, Dumont; John R., Mclaughlin; Arndt, Hartmann; Arif B., Ekici; Matthias W., Beckmann; Catherine M., Phelan; Michael P., Lux; Jenny Permuth, Wey; Bernard, Peissel; Thomas A., Sellers; Filomena, Ficarazzi; Monica, Barile; Argyrios, Ziogas; Alan, Ashworth; Aleksandra Gentry, Maharaj; Michael, Jones; Susan J., Ramus; Nick, Orr; Usha, Menon; Celeste L., Pearce; Thomas, Bruning; Malcolm C., Pike; Yon Dschun, Ko; Jolanta, Lissowska; Jonine, Figueroa; Jolanta, Kupryjanczyk; Stephen J., Chanock; Agnieszka Dansonka, Mieszkowska; Arja Jukkola, Vuorinen; Iwona K., Rzepecka; Katri, Pylkas; Mariusz, Bidzinski; Saila, Kauppila; Antoinette, Hollestelle; Caroline, Seynaeve; Rob A. e. m., Tollenaar; Katarzyna, Durda; Katarzyna, Jaworska; Jaana M., Hartikainen; Veli Matti, Kosma; Vesa, Kataja; Natalia N., Antonenkova; Jirong, Long; Martha, Shrubsole; Sandra Deming, Halverson; Artitaya, Lophatananon; Pornthep, Siriwanarangsan; Sarah Stewart, Brown; Nina, Ditsch; Peter, Lichtner; Rita K., Schmutzler; Hidemi, Ito; Hiroji, Iwata; Kazuo, Tajima; Chiu Chen, Tseng; Daniel O., Stram; David Van Den, Berg; Cheng Har, Yip; M., Kamran Ikram; Yew Ching, Teh; Hui, Cai; Wei, Lu; Lisa B., Signorello; Qiuyin, Cai; Dong Young, Noh; Keun Young, Yoo; Hui, Miao; Philip Tsau Choong, Iau; Yik Ying, Teo; James, Mckay; Charles, Shapiro; Foluso, Ademuyiwa; George, Fountzilas; Chia Ni, Hsiung; Jyh Cherng, Yu; Ming Feng, Hou; Catherine S., Healey; Craig, Luccarini; Susan, Peock; Dominique Stoppa, Lyonnet; Paolo, Peterlongo; Timothy R., Rebbeck; Marion, Piedmonte; Christian F., Singer; Eitan, Friedman; Mads, Thomassen; Kenneth, Offit; Thomas V. o., Hansen; Susan L., Neuhausen; Csilla I., Szabo; Ignacio, Blanco; Judy, Garber; Steven A., Narod; Jeffrey N., Weitzel; Marco, Montagna; Edith, Olah; Andrew K., Godwin; Drakoulis, Yannoukakos; David E., Goldgar; Trinidad, Caldes; Evgeny N., Imyanitov; Laima, Tihomirova; Banu K., Arun; Ian, Campbell; Arjen R., Mensenkamp; Christi J., Van Asperen; Kees E. p., Van Roozendaal; Hanne Meijers, Heijboer; J., Margriet Collee; Jan C., Oosterwijk; Maartje J., Hooning; Matti A., Rookus; Rob B., Van Der Luijt; T. a. m., Os; D., Gareth Evans; Debra, Frost; Elena, Fineberg; Julian, Barwell; Lisa, Walker; M., John Kennedy; Radka, Platte; Rosemarie, Davidson; Steve D., Ellis; Trevor, Cole; Brigitte Bressac De, Paillerets; Bruno, Buecher; Francesca, Damiola; Laurence, Faivre; Marc, Frenay; Olga M., Sinilnikova; Olivier, Caron; Sophie, Giraud; Sylvie, Mazoyer; Valerie, Bonadona; Virginie Caux, Moncoutier; Aleksandra Toloczko, Grabarek; Jacek, Gronwald; Tomasz, Byrski; Amanda B., Spurdle; Bernardo, Bonanni; Daniela, Zaffaroni; Giannini, Giuseppe; Loris, Bernard; Riccardo, Dolcetti; Siranoush, Manoukian; Norbert, Arnold; Christoph, Engel; Helmut, Deissler; Kerstin, Rhiem; Dieter, Niederacher; Hansjoerg, Plendl; Christian, Sutter; Barbara, Wappenschmidt; Åke, Borg; Beatrice, Melin; Johanna, Rantala; Maria, Soller; Katherine L., Nathanson; Susan M., Domchek; Gustavo C., Rodriguez; Ritu, Salani; Daphne Gschwantler, Kaulich; Muy Kheng, Tea; Shani Shimon, Paluch; Yael, Laitman; Anne Bine, Skytte; Torben A., Kruse; Uffe Birk, Jensen; Mark, Robson; Anne Marie, Gerdes; Bent, Ejlertsen; Lenka, Foretova; Sharon A., Savage; Jenny, Lester; Penny, Soucy; Karoline B., Kuchenbaecker; Curtis, Olswold; Julie M., Cunningham; Susan, Slager; Vernon S., Pankratz; Ed, Dicks; Sunil R., Lakhani; Fergus J., Couch; Per, Hall; Alvaro N. a., Monteiro; Simon A., Gayther; Paul D. p., Pharoah; Roger R., Reddel; Ellen L., Goode; Mark H., Greene; Douglas F., Easton; Andrew, Berchuck; Antonis C., Antoniou; Georgia Chenevix, Trench; Alison M., Dunning. - In: NATURE GENETICS. - ISSN 1061-4036. - STAMPA. - 45:4(2013), pp. 371-384. [10.1038/ng.2566]
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
Stig E. Bojesen;Karen A. Pooley;Sharon E. Johnatty;Jonathan Beesley;Kyriaki Michailidou;Jonathan P. Tyrer;Stacey L. Edwards;Hilda A. Pickett;Chen Yang Shen;Chanel E. Smart;Kristine M. Hillman;Phuong L. Mai;Kate Lawrenson;Michael D. Stutz;Yi Lu;Rod Karevan;Nicholas Woods;Rebecca L. Johnston;Juliet D. French;Xiaoqing Chen;Maren Weischer;Sune F. Nielsen;Melanie J. Maranian;Maya Ghoussaini;Shahana Ahmed;Caroline Baynes;Manjeet K. Bolla;Qin Wang;Joe Dennis;Lesley Mcguffog;Daniel Barrowdale;Andrew Lee;Catherine S. Healey;Michael Lush;Daniel C. Tessier;Daniel Vincent;Françis Bacot;Ignace Vergote;Sandrina Lambrechts;Evelyn Despierre;Harvey A. Risch;Anna Gonzalez Neira;Mary Anne Rossing;Guillermo Pita;Jennifer A. Doherty;Nuria Alvarez;Melissa C. Larson;Brooke L. Fridley;Nils Schoof;Jenny Chang Claude;Mine S. Cicek;Julian Peto;Kimberly R. Kalli;Annegien Broeks;Sebastian M. Armasu;Marjanka K. Schmidt;Linde M. Braaf;Boris Winterhoff;Heli Nevanlinna;Gottfried E. Konecny;Diether Lambrechts;Lisa Rogmann;Pascal Guenel;Attila Teoman;Roger L. Milne;Joaquin J. Garcia;Angela Cox;Vijayalakshmi Shridhar;Barbara Burwinkel;Frederik Marme;Rebecca Hein;Elinor J. Sawyer;Christopher A. Haiman;Shan Wang Gohrke;Irene L. Andrulis;Kirsten B. Moysich;John L. Hopper;Kunle Odunsi;Annika Lindblom;Graham G. Giles;Hermann Brenner;Jacques Simard;Galina Lurie;Peter A. Fasching;Michael E. Carney;Paolo Radice;Lynne R. Wilkens;Anthony Swerdlow;Marc T. Goodman;Hiltrud Brauch;Montserrat Garcia Closas;Peter Hillemanns;Robert Winqvist;Matthias Durst;Peter Devilee;Ingo Runnebaum;Anna Jakubowska;Jan Lubinski;Arto Mannermaa;Ralf Butzow;Natalia V. Bogdanova;Thilo Dork;Liisa M. Pelttari;Wei Zheng;Arto Leminen;Hoda Anton Culver;Clareann H. Bunker;Vessela Kristensen;Roberta B. Ness;Kenneth Muir;Robert Edwards;Alfons Meindl;Florian Heitz;Keitaro Matsuo;Andreas Du Bois;Anna H. Wu;Philipp Harter;Soo Hwang Teo;Ira Schwaab;Xiao Ou Shu;William Blot;Satoyo Hosono;Daehee Kang;Toru Nakanishi;Mikael Hartman;Yasushi Yatabe;Ute Hamann;Beth Y. Karlan;Suleeporn Sangrajrang;Susanne Krüger Kjaer;Valerie Gaborieau;Allan Jensen;Diana Eccles;E. Hogdall;Chen Yang Shen;Judith Brown;Yin Ling Woo;Mitul Shah;Mat Adenan Noor Azmi;Robert Luben;Siti Zawiah Omar;Kamila Czene;Robert A. Vierkant;G. Nordestgaard Bo;Henrik Flyger;Celine Vachon;Janet E. Olson;Xianshu Wang;Douglas A. Levine;Anja Rudolph;Rachel Palmieri Weber;Dieter Flesch Janys;Edwin Iversen;Stefan Nickels;Joellen M. Schildkraut;Isabel Dos Santos Silva;Daniel W. Cramer;Lorna Gibson;Kathryn L. Terry;Olivia Fletcher;Allison F. Vitonis;C. Ellen Van Der Schoot;Elizabeth M. Poole;Frans B. l. Hogervorst;Shelley S. Tworoger;Jianjun Liu;Elisa V. Bandera;Jingmei Li;Sara H. Olson;Keith Humphreys;Irene Orlow;Carl Blomqvist;Lorna Rodriguez Rodriguez;Kristiina Aittomaki;Helga B. Salvesen;Taru A. Muranen;Elisabeth Wik;Barbara Brouwers;Camilla Krakstad;Els Wauters;Mari K. Halle;Hans Wildiers;Lambertus A. Kiemeney;Claire Mulot;Katja K. Aben;Pierre Laurent Puig;Anne Mvan Altena;Therese Truong;Leon F. a. g. Massuger;Javier Benitez;Tanja Pejovic;Jose Ignacio Arias Perez;Maureen Hoatlin;M. Pilar Zamora;Linda S. Cook;Sabapathy P. Balasubramanian;Linda E. Kelemen;Andreas Schneeweiss;Nhu D. Le;Christof Sohn;Angela Brooks Wilson;Ian Tomlinson;Michael J. Kerin;Nicola Miller;Cezary Cybulski;Brian E. Henderson;Janusz Menkiszak;Fredrick Schumacher;Nicolas Wentzensen;Loic Le Marchand;Hannah P. Yang;Anna Marie Mulligan;Gord Glendon;Svend Aage Engelholm;Julia A. Knight;C. k. Hogdall;Carmel Apicella;Martin Gore;Helen Tsimiklis;Honglin Song;Melissa C. Southey;Agnes Jager;A. m. w. Den Ouweland;Robert Brown;John W. m. Martens;James M. Flanagan;Mieke Kriege;James Paul;Sara Margolin;Nadeem Siddiqui;Gianluca Severi;Alice S. Whittemore;Laura Baglietto;Valerie Mcguire;Christa Stegmaier;Weiva Sieh;Heiko Muller;Volker Arndt;France Labreche;Yu Tang Gao;Mark S. Goldberg;Gong Yang;Martine Dumont;John R. Mclaughlin;Arndt Hartmann;Arif B. Ekici;Matthias W. Beckmann;Catherine M. Phelan;Michael P. Lux;Jenny Permuth Wey;Bernard Peissel;Thomas A. Sellers;Filomena Ficarazzi;Monica Barile;Argyrios Ziogas;Alan Ashworth;Aleksandra Gentry Maharaj;Michael Jones;Susan J. Ramus;Nick Orr;Usha Menon;Celeste L. Pearce;Thomas Bruning;Malcolm C. Pike;Yon Dschun Ko;Jolanta Lissowska;Jonine Figueroa;Jolanta Kupryjanczyk;Stephen J. Chanock;Agnieszka Dansonka Mieszkowska;Arja Jukkola Vuorinen;Iwona K. Rzepecka;Katri Pylkas;Mariusz Bidzinski;Saila Kauppila;Antoinette Hollestelle;Caroline Seynaeve;Rob A. e. m. Tollenaar;Katarzyna Durda;Katarzyna Jaworska;Jaana M. Hartikainen;Veli Matti Kosma;Vesa Kataja;Natalia N. Antonenkova;Jirong Long;Martha Shrubsole;Sandra Deming Halverson;Artitaya Lophatananon;Pornthep Siriwanarangsan;Sarah Stewart Brown;Nina Ditsch;Peter Lichtner;Rita K. Schmutzler;Hidemi Ito;Hiroji Iwata;Kazuo Tajima;Chiu Chen Tseng;Daniel O. Stram;David Van Den Berg;Cheng Har Yip;M. Kamran Ikram;Yew Ching Teh;Hui Cai;Wei Lu;Lisa B. Signorello;Qiuyin Cai;Dong Young Noh;Keun Young Yoo;Hui Miao;Philip Tsau Choong Iau;Yik Ying Teo;James Mckay;Charles Shapiro;Foluso Ademuyiwa;George Fountzilas;Chia Ni Hsiung;Jyh Cherng Yu;Ming Feng Hou;Catherine S. Healey;Craig Luccarini;Susan Peock;Dominique Stoppa Lyonnet;Paolo Peterlongo;Timothy R. Rebbeck;Marion Piedmonte;Christian F. Singer;Eitan Friedman;Mads Thomassen;Kenneth Offit;Thomas V. o. Hansen;Susan L. Neuhausen;Csilla I. Szabo;Ignacio Blanco;Judy Garber;Steven A. Narod;Jeffrey N. Weitzel;Marco Montagna;Edith Olah;Andrew K. Godwin;Drakoulis Yannoukakos;David E. Goldgar;Trinidad Caldes;Evgeny N. Imyanitov;Laima Tihomirova;Banu K. Arun;Ian Campbell;Arjen R. Mensenkamp;Christi J. Van Asperen;Kees E. p. Van Roozendaal;Hanne Meijers Heijboer;J. Margriet Collee;Jan C. Oosterwijk;Maartje J. Hooning;Matti A. Rookus;Rob B. Van Der Luijt;T. a. m. Os;D. Gareth Evans;Debra Frost;Elena Fineberg;Julian Barwell;Lisa Walker;M. John Kennedy;Radka Platte;Rosemarie Davidson;Steve D. Ellis;Trevor Cole;Brigitte Bressac De Paillerets;Bruno Buecher;Francesca Damiola;Laurence Faivre;Marc Frenay;Olga M. Sinilnikova;Olivier Caron;Sophie Giraud;Sylvie Mazoyer;Valerie Bonadona;Virginie Caux Moncoutier;Aleksandra Toloczko Grabarek;Jacek Gronwald;Tomasz Byrski;Amanda B. Spurdle;Bernardo Bonanni;Daniela Zaffaroni;GIANNINI, Giuseppe;Loris Bernard;Riccardo Dolcetti;Siranoush Manoukian;Norbert Arnold;Christoph Engel;Helmut Deissler;Kerstin Rhiem;Dieter Niederacher;Hansjoerg Plendl;Christian Sutter;Barbara Wappenschmidt;Åke Borg;Beatrice Melin;Johanna Rantala;Maria Soller;Katherine L. Nathanson;Susan M. Domchek;Gustavo C. Rodriguez;Ritu Salani;Daphne Gschwantler Kaulich;Muy Kheng Tea;Shani Shimon Paluch;Yael Laitman;Anne Bine Skytte;Torben A. Kruse;Uffe Birk Jensen;Mark Robson;Anne Marie Gerdes;Bent Ejlertsen;Lenka Foretova;Sharon A. Savage;Jenny Lester;Penny Soucy;Karoline B. Kuchenbaecker;Curtis Olswold;Julie M. Cunningham;Susan Slager;Vernon S. Pankratz;Ed Dicks;Sunil R. Lakhani;Fergus J. Couch;Per Hall;Alvaro N. a. Monteiro;Simon A. Gayther;Paul D. p. Pharoah;Roger R. Reddel;Ellen L. Goode;Mark H. Greene;Douglas F. Easton;Andrew Berchuck;Antonis C. Antoniou;Georgia Chenevix Trench;Alison M. Dunning
2013
Abstract
TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ∼480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10 -7), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10 -8) and BRCA1 mutation carrier (P = 1.1 × 10 -5) breast cancers and altered promoter assay signal. The minor allele at the peak 2 SNP rs7705526 associates with longer telomeres (P = 2.3 × 10 -14), higher risk of low-malignant-potential ovarian cancer (P = 1.3 × 10 -15) and greater promoter activity. The minor alleles at the peak 3 SNPs rs10069690 and rs2242652 increase ER-negative (P = 1.2 × 10 -12) and BRCA1 mutation carrier (P = 1.6 × 10 -14) breast and invasive ovarian (P = 1.3 × 10 -11) cancer risks but not via altered telomere length. The cancer risk alleles of rs2242652 and rs10069690, respectively, increase silencing and generate a truncated TERT splice variant.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/514843
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simulazione ASN
Il report seguente simula gli indicatori relativi alla propria produzione scientifica in relazione alle soglie ASN 2023-2025 del proprio SC/SSD. Si ricorda che il superamento dei valori soglia (almeno 2 su 3) è requisito necessario ma non sufficiente al conseguimento dell'abilitazione. La simulazione si basa sui dati IRIS e sugli indicatori bibliometrici alla data indicata e non tiene conto di eventuali periodi di congedo obbligatorio, che in sede di domanda ASN danno diritto a incrementi percentuali dei valori. La simulazione può differire dall'esito di un’eventuale domanda ASN sia per errori di catalogazione e/o dati mancanti in IRIS, sia per la variabilità dei dati bibliometrici nel tempo. Si consideri che Anvur calcola i valori degli indicatori all'ultima data utile per la presentazione delle domande.
La presente simulazione è stata realizzata sulla base delle specifiche raccolte sul tavolo ER del Focus Group IRIS coordinato dall’Università di Modena e Reggio Emilia e delle regole riportate nel DM 589/2018 e allegata Tabella A. Cineca, l’Università di Modena e Reggio Emilia e il Focus Group IRIS non si assumono alcuna responsabilità in merito all’uso che il diretto interessato o terzi faranno della simulazione. Si specifica inoltre che la simulazione contiene calcoli effettuati con dati e algoritmi di pubblico dominio e deve quindi essere considerata come un mero ausilio al calcolo svolgibile manualmente o con strumenti equivalenti.