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Low-frequency variation near common germline susceptibility loci are associated with risk of Ewing sarcoma

Lin, Shu-Hong ; Sampson, Joshua N ; Grünewald, Thomas G. P ; Surdez, Didier ; Reynaud, Stephanie ; Mirabeau, Olivier ; Karlins, Eric ; Rubio, Rebeca Alba ; Zaidi, Sakina ; Grossetete-Lalami, Sandrine ; Ballet, Stelly ; Lapouble, Eve ; Laurence, Valerie ; Michon, Jean ; Pierron, Gaelle ; Kovar, Heinrich ; Kontny, Udo ; Gonzalez-Neira, Anna ; Alonso, Javier ; Patino-Garcia, Ana ; Corradini, Nadege ; Berard, Perrine Marec ; Miller, Jeremy ; Freedman, Neal D ; Rothman, Nathaniel ; Carter, Brian D ; Dagnall, Casey L ; Burdett, Laurie ; Jones, Kristine ; Manning, Michelle ; Wyatt, Kathleen ; Zhou, Weiyin ; Yeager, Meredith ; Cox, David G ; Hoover, Robert N ; Khan, Javed ; Armstrong, Gregory T ; Leisenring, Wendy M ; Bhatia, Smita ; Robison, Leslie L ; Kulozik, Andreas E ; Kriebel, Jennifer ; Meitinger, Thomas ; Metzler, Markus ; Krumbholz, Manuela ; Hartmann, Wolfgang ; Strauch, Konstantin ; Kirchner, Thomas ; Dirksen, Uta ; Mirabello, Lisa ; Tucker, Margaret A ; Tirode, Franck ; Morton, Lindsay M ; Chanock, Stephen J ; Delattre, Olivier ; Machiela, Mitchell J

PLOS One, 2020-01

Ludwig-Maximilians-Universität München

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Título:
Low-frequency variation near common germline susceptibility loci are associated with risk of Ewing sarcoma
Autor: Lin, Shu-Hong ; Sampson, Joshua N ; Grünewald, Thomas G. P ; Surdez, Didier ; Reynaud, Stephanie ; Mirabeau, Olivier ; Karlins, Eric ; Rubio, Rebeca Alba ; Zaidi, Sakina ; Grossetete-Lalami, Sandrine ; Ballet, Stelly ; Lapouble, Eve ; Laurence, Valerie ; Michon, Jean ; Pierron, Gaelle ; Kovar, Heinrich ; Kontny, Udo ; Gonzalez-Neira, Anna ; Alonso, Javier ; Patino-Garcia, Ana ; Corradini, Nadege ; Berard, Perrine Marec ; Miller, Jeremy ; Freedman, Neal D ; Rothman, Nathaniel ; Carter, Brian D ; Dagnall, Casey L ; Burdett, Laurie ; Jones, Kristine ; Manning, Michelle ; Wyatt, Kathleen ; Zhou, Weiyin ; Yeager, Meredith ; Cox, David G ; Hoover, Robert N ; Khan, Javed ; Armstrong, Gregory T ; Leisenring, Wendy M ; Bhatia, Smita ; Robison, Leslie L ; Kulozik, Andreas E ; Kriebel, Jennifer ; Meitinger, Thomas ; Metzler, Markus ; Krumbholz, Manuela ; Hartmann, Wolfgang ; Strauch, Konstantin ; Kirchner, Thomas ; Dirksen, Uta ; Mirabello, Lisa ; Tucker, Margaret A ; Tirode, Franck ; Morton, Lindsay M ; Chanock, Stephen J ; Delattre, Olivier ; Machiela, Mitchell J
Assuntos: Medizin
É parte de: PLOS One, 2020-01
Notas: https://epub.ub.uni-muenchen.de/87233/1/87233.pdf
Lin, Shu-Hong; Sampson, Joshua N.; Grünewald, Thomas G. P.; Surdez, Didier; Reynaud, Stephanie; Mirabeau, Olivier; Karlins, Eric; Rubio, Rebeca Alba; Zaidi, Sakina; Grossetete-Lalami, Sandrine; Ballet, Stelly; Lapouble, Eve; Laurence, Valerie; Michon, Jean; Pierron, Gaelle; Kovar, Heinrich; Kontny, Udo; Gonzalez-Neira, Anna; Alonso, Javier; Patino-Garcia, Ana; Corradini, Nadege; Berard, Perrine Marec; Miller, Jeremy; Freedman, Neal D.; Rothman, Nathaniel; Carter, Brian D.; Dagnall, Casey L.; Burdett, Laurie; Jones, Kristine; Manning, Michelle; Wyatt, Kathleen; Zhou, Weiyin; Yeager, Meredith; Cox, David G.; Hoover, Robert N.; Khan, Javed; Armstrong, Gregory T.; Leisenring, Wendy M.; Bhatia, Smita; Robison, Leslie L.; Kulozik, Andreas E.; Kriebel, Jennifer; Meitinger, Thomas; Metzler, Markus; Krumbholz, Manuela; Hartmann, Wolfgang; Strauch, Konstantin; Kirchner, Thomas; Dirksen, Uta; Mirabello, Lisa; Tucker, Margaret A.; Tirode, Franck; Morton, Lindsay M.; Chanock, Stephen J.; Delattre, Olivier und Machiela, Mitchell J. (2020): Low-frequency variation near common germline susceptibility loci are associated with risk of Ewing sarcoma. In: PLOS One 15(9), e0237792 [PDF, 1MB]
http://nbn-resolving.de/urn:nbn:de:bvb:19-epub-87233-0
https://epub.ub.uni-muenchen.de/87233/
10.1371/journal.pone.0237792
Descrição: Background: Ewing sarcoma (EwS) is a rare, aggressive solid tumor of childhood, adolescence and young adulthood associated with pathognomonic EWSR1-ETS fusion oncoproteins altering transcriptional regulation. Genome-wide association studies (GWAS) have identified 6 common germline susceptibility loci but have not investigated low-frequency inherited variants with minor allele frequencies below 5% due to limited genotyped cases of this rare tumor. Methods We investigated the contribution of rare and low-frequency variation to EwS susceptibility in the largest EwS genome-wide association study to date (733 EwS cases and 1,346 unaffected controls of European ancestry). Results We identified two low-frequency variants, rs112837127 and rs2296730, on chromosome 20 that were associated with EwS risk (OR = 0.186 and 2.038, respectively;P-value < 5x10(-8)) and located near previously reported common susceptibility loci. After adjusting for the most associated common variant at the locus, only rs112837127 remained a statistically significant independent signal (OR = 0.200, P-value = 5.84x10(-8)). Conclusions: These findings suggest rare variation residing on common haplotypes are important contributors to EwS risk. Impact Motivate future targeted sequencing studies for a comprehensive evaluation of low-frequency and rare variation around common EwS susceptibility loci.
Editor: Ludwig-Maximilians-Universität München
Idioma: Inglês

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Low-frequency variation near common germline susceptibility loci are associated with risk of Ewing sarcoma

Ludwig-Maximilians-Universität München

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