Germline copy number variants and endometrial cancer risk

  1. Stylianou, Cassie E.
  2. Wiggins, George A. R.
  3. Lau, Vanessa L.
  4. Dennis, Joe
  5. Shelling, Andrew N.
  6. Wilson, Michelle
  7. Sykes, Peter
  8. Amant, Frederic
  9. Annibali, Daniela
  10. De Wispelaere, Wout
  11. Easton, Douglas F.
  12. Fasching, Peter A.
  13. Glubb, Dylan M.
  14. Goode, Ellen L.
  15. Lambrechts, Diether
  16. Pharoah, Paul D. P.
  17. Scott, Rodney J.
  18. Tham, Emma
  19. Tomlinson, Ian
  20. Bolla, Manjeet K.
  21. Couch, Fergus J.
  22. Czene, Kamila
  23. Dörk, Thilo
  24. Dunning, Alison M.
  25. Fletcher, Olivia
  26. García-Closas, Montserrat
  27. Hoppe, Reiner
  28. ABCTB Investigators
  29. Clarke, Christine
  30. Marsh, Deborah
  31. Scott, Rodney
  32. Baxter, Robert
  33. Yip, Desmond
  34. Carpenter, Jane
  35. Davis, Alison
  36. Pathmanathan, Nirmala
  37. Simpson, Peter
  38. Dinny Graham, J
  39. Sachchithananthan, Mythily
  40. Jernström, Helena
  41. Kaaks, Rudolf
  42. Michailidou, Kyriaki
  43. Obi, Nadia
  44. Southey, Melissa C.
  45. Stone, Jennifer
  46. Wang, Qin
  47. Spurdle, Amanda B.
  48. O’Mara, Tracy A.
  49. Pearson, John
  50. Walker, Logan C.

Download
00439_2024_Article_2707.pdf 2,27MB
WeightNameValue
1000 Titel
  • Germline copy number variants and endometrial cancer risk
1000 Autor/in
  1. Stylianou, Cassie E. |
  2. Wiggins, George A. R. |
  3. Lau, Vanessa L. |
  4. Dennis, Joe |
  5. Shelling, Andrew N. |
  6. Wilson, Michelle |
  7. Sykes, Peter |
  8. Amant, Frederic |
  9. Annibali, Daniela |
  10. De Wispelaere, Wout |
  11. Easton, Douglas F. |
  12. Fasching, Peter A. |
  13. Glubb, Dylan M. |
  14. Goode, Ellen L. |
  15. Lambrechts, Diether |
  16. Pharoah, Paul D. P. |
  17. Scott, Rodney J. |
  18. Tham, Emma |
  19. Tomlinson, Ian |
  20. Bolla, Manjeet K. |
  21. Couch, Fergus J. |
  22. Czene, Kamila |
  23. Dörk, Thilo |
  24. Dunning, Alison M. |
  25. Fletcher, Olivia |
  26. García-Closas, Montserrat |
  27. Hoppe, Reiner |
  28. ABCTB Investigators |
  29. Clarke, Christine |
  30. Marsh, Deborah |
  31. Scott, Rodney |
  32. Baxter, Robert |
  33. Yip, Desmond |
  34. Carpenter, Jane |
  35. Davis, Alison |
  36. Pathmanathan, Nirmala |
  37. Simpson, Peter |
  38. Dinny Graham, J |
  39. Sachchithananthan, Mythily |
  40. Jernström, Helena |
  41. Kaaks, Rudolf |
  42. Michailidou, Kyriaki |
  43. Obi, Nadia |
  44. Southey, Melissa C. |
  45. Stone, Jennifer |
  46. Wang, Qin |
  47. Spurdle, Amanda B. |
  48. O’Mara, Tracy A. |
  49. Pearson, John |
  50. Walker, Logan C. |
1000 Verlag Springer Berlin Heidelberg
1000 Erscheinungsjahr 2024
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2024-11-04
1000 Erschienen in
1000 Quellenangabe
  • 143(12):1481-1498
1000 Copyrightjahr
  • 2024
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1007/s00439-024-02707-9 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11576655/ |
1000 Publikationsstatus
1000 Begutachtungsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • <jats:title>Abstract</jats:title><jats:p>Known risk loci for endometrial cancer explain approximately one third of familial endometrial cancer. However, the association of germline copy number variants (CNVs) with endometrial cancer risk remains relatively unknown. We conducted a genome-wide analysis of rare CNVs overlapping gene regions in 4115 endometrial cancer cases and 17,818 controls to identify functionally relevant variants associated with disease. We identified a 1.22-fold greater number of CNVs in DNA samples from cases compared to DNA samples from controls (<jats:italic>p</jats:italic> = 4.4 × 10<jats:sup>–63</jats:sup>). Under three models of putative CNV impact (deletion, duplication, and loss of function), genome-wide association studies identified 141 candidate gene loci associated (<jats:italic>p</jats:italic> &lt; 0.01) with endometrial cancer risk. Pathway analysis of the candidate loci revealed an enrichment of genes involved in the 16p11.2 proximal deletion syndrome, driven by a large recurrent deletion (chr16:29,595,483-30,159,693) identified in 0.15% of endometrial cancer cases and 0.02% of control participants. Together, these data provide evidence that rare copy number variants have a role in endometrial cancer susceptibility and that the proximal 16p11.2 BP4-BP5 region contains 25 candidate risk gene(s) that warrant further analysis to better understand their role in human disease.</jats:p>
1000 Sacherschließung
lokal Genetic Predisposition to Disease [MeSH]
lokal Female [MeSH]
lokal Polymorphism, Single Nucleotide [MeSH]
lokal Humans [MeSH]
lokal Middle Aged [MeSH]
lokal Risk Factors [MeSH]
lokal Chromosomes, Human, Pair 16/genetics [MeSH]
lokal Genome-Wide Association Study [MeSH]
lokal DNA Copy Number Variations [MeSH]
lokal Original Investigation
lokal Endometrial Neoplasms/genetics [MeSH]
lokal Germ-Line Mutation [MeSH]
lokal Case-Control Studies [MeSH]
1000 Fächerklassifikation (DDC)
1000 Liste der Beteiligten
  1. https://frl.publisso.de/adhoc/uri/U3R5bGlhbm91LCBDYXNzaWUgRS4=|https://frl.publisso.de/adhoc/uri/V2lnZ2lucywgR2VvcmdlIEEuIFIu|https://frl.publisso.de/adhoc/uri/TGF1LCBWYW5lc3NhIEwu|https://frl.publisso.de/adhoc/uri/RGVubmlzLCBKb2U=|https://frl.publisso.de/adhoc/uri/U2hlbGxpbmcsIEFuZHJldyBOLg==|https://frl.publisso.de/adhoc/uri/V2lsc29uLCBNaWNoZWxsZQ==|https://frl.publisso.de/adhoc/uri/U3lrZXMsIFBldGVy|https://frl.publisso.de/adhoc/uri/QW1hbnQsIEZyZWRlcmlj|https://frl.publisso.de/adhoc/uri/QW5uaWJhbGksIERhbmllbGE=|https://frl.publisso.de/adhoc/uri/RGUgV2lzcGVsYWVyZSwgV291dA==|https://frl.publisso.de/adhoc/uri/RWFzdG9uLCBEb3VnbGFzIEYu|https://frl.publisso.de/adhoc/uri/RmFzY2hpbmcsIFBldGVyIEEu|https://frl.publisso.de/adhoc/uri/R2x1YmIsIER5bGFuIE0u|https://frl.publisso.de/adhoc/uri/R29vZGUsIEVsbGVuIEwu|https://frl.publisso.de/adhoc/uri/TGFtYnJlY2h0cywgRGlldGhlcg==|https://frl.publisso.de/adhoc/uri/UGhhcm9haCwgUGF1bCBELiBQLg==|https://frl.publisso.de/adhoc/uri/U2NvdHQsIFJvZG5leSBKLg==|https://frl.publisso.de/adhoc/uri/VGhhbSwgRW1tYQ==|https://frl.publisso.de/adhoc/uri/VG9tbGluc29uLCBJYW4=|https://frl.publisso.de/adhoc/uri/Qm9sbGEsIE1hbmplZXQgSy4=|https://frl.publisso.de/adhoc/uri/Q291Y2gsIEZlcmd1cyBKLg==|https://frl.publisso.de/adhoc/uri/Q3plbmUsIEthbWlsYQ==|https://frl.publisso.de/adhoc/uri/RMO2cmssIFRoaWxv|https://frl.publisso.de/adhoc/uri/RHVubmluZywgQWxpc29uIE0u|https://frl.publisso.de/adhoc/uri/RmxldGNoZXIsIE9saXZpYQ==|https://frl.publisso.de/adhoc/uri/R2FyY8OtYS1DbG9zYXMsIE1vbnRzZXJyYXQ=|https://frl.publisso.de/adhoc/uri/SG9wcGUsIFJlaW5lcg==|https://frl.publisso.de/adhoc/uri/QUJDVEIgSW52ZXN0aWdhdG9ycw==|https://frl.publisso.de/adhoc/uri/Q2xhcmtlLCBDaHJpc3RpbmU=|https://frl.publisso.de/adhoc/uri/TWFyc2gsIERlYm9yYWg=|https://frl.publisso.de/adhoc/uri/U2NvdHQsIFJvZG5leQ==|https://frl.publisso.de/adhoc/uri/QmF4dGVyLCBSb2JlcnQ=|https://frl.publisso.de/adhoc/uri/WWlwLCBEZXNtb25k|https://frl.publisso.de/adhoc/uri/Q2FycGVudGVyLCBKYW5l|https://frl.publisso.de/adhoc/uri/RGF2aXMsIEFsaXNvbg==|https://frl.publisso.de/adhoc/uri/UGF0aG1hbmF0aGFuLCBOaXJtYWxh|https://frl.publisso.de/adhoc/uri/U2ltcHNvbiwgUGV0ZXI=|https://frl.publisso.de/adhoc/uri/RGlubnkgR3JhaGFtLCBK|https://frl.publisso.de/adhoc/uri/U2FjaGNoaXRoYW5hbnRoYW4sIE15dGhpbHk=|https://frl.publisso.de/adhoc/uri/SmVybnN0csO2bSwgSGVsZW5h|https://frl.publisso.de/adhoc/uri/S2Fha3MsIFJ1ZG9sZg==|https://frl.publisso.de/adhoc/uri/TWljaGFpbGlkb3UsIEt5cmlha2k=|https://frl.publisso.de/adhoc/uri/T2JpLCBOYWRpYQ==|https://frl.publisso.de/adhoc/uri/U291dGhleSwgTWVsaXNzYSBDLg==|https://frl.publisso.de/adhoc/uri/U3RvbmUsIEplbm5pZmVy|https://frl.publisso.de/adhoc/uri/V2FuZywgUWlu|https://frl.publisso.de/adhoc/uri/U3B1cmRsZSwgQW1hbmRhIEIu|https://frl.publisso.de/adhoc/uri/T_KAmU1hcmEsIFRyYWN5IEEu|https://frl.publisso.de/adhoc/uri/UGVhcnNvbiwgSm9obg==|https://frl.publisso.de/adhoc/uri/V2Fsa2VyLCBMb2dhbiBDLg==
1000 Hinweis
  • DeepGreen-ID: 22ccf3587138441199f67994852e375d ; metadata provieded by: DeepGreen (https://www.oa-deepgreen.de/api/v1/), LIVIVO search scope life sciences (http://z3950.zbmed.de:6210/livivo), Crossref Unified Resource API (https://api.crossref.org/swagger-ui/index.html), to.science.api (https://frl.publisso.de/), ZDB JSON-API (beta) (https://zeitschriftendatenbank.de/api/), lobid - Dateninfrastruktur für Bibliotheken (https://lobid.org/resources/search)
1000 Label
1000 Förderer
  1. Health Research Council of New Zealand |
  2. National Health and Medical Research Council |
1000 Fördernummer
  1. -
  2. -
1000 Förderprogramm
  1. -
  2. -
1000 Dateien
  1. Germline copy number variants and endometrial cancer risk
    Germline copy number variants and endometrial cancer risk
1000 Förderung
  1. 1000 joinedFunding-child
    1000 Förderer Health Research Council of New Zealand |
    1000 Förderprogramm -
    1000 Fördernummer -
  2. 1000 joinedFunding-child
    1000 Förderer National Health and Medical Research Council |
    1000 Förderprogramm -
    1000 Fördernummer -
1000 Objektart article
1000 Beschrieben durch
1000 @id frl:6519589.rdf
1000 Erstellt am 2025-07-05T18:56:01.513+0200
1000 Erstellt von 322
1000 beschreibt frl:6519589
1000 Zuletzt bearbeitet 2025-08-11T17:11:27.319+0200
1000 Objekt bearb. Mon Aug 11 17:11:27 CEST 2025
1000 Vgl. frl:6519589
1000 Oai Id
  1. oai:frl.publisso.de:frl:6519589 |
1000 Sichtbarkeit Metadaten public
1000 Sichtbarkeit Daten public
1000 Gegenstand von

View source