دورية أكاديمية
أعرض في EDS

Germline Variants Associated with Nasopharyngeal Carcinoma Predisposition Identified through Whole-Exome Sequencing.

التفاصيل البيبلوغرافية
العنوان: Germline Variants Associated with Nasopharyngeal Carcinoma Predisposition Identified through Whole-Exome Sequencing.
المؤلفون: Lee NY; Division of Cellular and Molecular Research, Humphrey Oei Institute of Cancer Research, National Cancer Centre Singapore, Singapore 196910, Singapore., Hum M; Division of Cellular and Molecular Research, Humphrey Oei Institute of Cancer Research, National Cancer Centre Singapore, Singapore 196910, Singapore., Ong PY; Department of Hematology-Oncology, National University Cancer Institute, Singapore (NCIS), National University Health System, Singapore 119074, Singapore., Myint MK; Division of Cellular and Molecular Research, Humphrey Oei Institute of Cancer Research, National Cancer Centre Singapore, Singapore 196910, Singapore., Ong EHW; Division of Medical Sciences, National Cancer Centre Singapore, Singapore 196910, Singapore., Low KP; Division of Medical Sciences, National Cancer Centre Singapore, Singapore 196910, Singapore., Li Z; Genome Institute of Singapore, A-STAR, Singapore 138672, Singapore., Goh BC; Department of Hematology-Oncology, National University Cancer Institute, Singapore (NCIS), National University Health System, Singapore 119074, Singapore.; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117597, Singapore.; Cancer Science Institute, Singapore (CSI), National University of Singapore, Singapore 117599, Singapore., Tay JK; Department of Otolaryngology-Head & Neck Surgery, National University Hospital, Singapore 119074, Singapore.; Department of Otolaryngology-Head & Neck Surgery, National University of Singapore, Singapore 119228, Singapore., Loh KS; Department of Otolaryngology-Head & Neck Surgery, National University Hospital, Singapore 119074, Singapore.; Department of Otolaryngology-Head & Neck Surgery, National University of Singapore, Singapore 119228, Singapore., Chua MLK; Division of Medical Sciences, National Cancer Centre Singapore, Singapore 196910, Singapore.; Department of Head and Neck and Thoracic Cancers, Division of Radiation Oncology, National Cancer Centre Singapore, Singapore 196910, Singapore.; SingHealth Duke-NUS Oncology Academic Clinical Programme (ONCO ACP), Duke-NUS Graduate Medical School, Singapore 117593, Singapore., Lee SC; Department of Hematology-Oncology, National University Cancer Institute, Singapore (NCIS), National University Health System, Singapore 119074, Singapore.; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117597, Singapore.; Cancer Science Institute, Singapore (CSI), National University of Singapore, Singapore 117599, Singapore., Khor CC; Genome Institute of Singapore, A-STAR, Singapore 138672, Singapore., Lee ASG; Division of Cellular and Molecular Research, Humphrey Oei Institute of Cancer Research, National Cancer Centre Singapore, Singapore 196910, Singapore.; SingHealth Duke-NUS Oncology Academic Clinical Programme (ONCO ACP), Duke-NUS Graduate Medical School, Singapore 117593, Singapore.; Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117593, Singapore.
المصدر: Cancers [Cancers (Basel)] 2022 Jul 28; Vol. 14 (15). Date of Electronic Publication: 2022 Jul 28.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101526829 Publication Model: Electronic Cited Medium: Print ISSN: 2072-6694 (Print) Linking ISSN: 20726694 NLM ISO Abbreviation: Cancers (Basel) Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Basel, Switzerland : MDPI
مستخلص: The current understanding of genetic susceptibility factors for nasopharyngeal carcinoma (NPC) is still incomplete. To identify novel germline variants associated with NPC predisposition, we analysed whole-exome sequencing data from 119 NPC patients from Singapore with a family history of NPC and/or with early-onset NPC, together with 1337 Singaporean participants without NPC. Variants were prioritised and filtered by selecting variants with minor allele frequencies of <1% in both local control (n = 1337) and gnomAD non-cancer (EAS) (n = 9626) cohorts and a high pathogenicity prediction (CADD score > 20). Using single-variant testing, we identified 17 rare pathogenic variants in 17 genes that were associated with NPC. Consistent evidence of enrichment in NPC patients was observed for five of these variants (in JAK2, PRDM16, LRP1B, NIN, and NKX2-1) from an independent case-control comparison of 156 NPC patients and 9770 unaffected individuals. In a family with five siblings, a FANCE variant (p. P445S) was detected in two affected members, but not in three unaffected members. Gene-based burden testing recapitulated variants in NKX2-1 and FANCE as being associated with NPC risk. Using pathway analysis, endocytosis and immune-modulating pathways were found to be enriched for mutation burden. This study has identified NPC-predisposing variants and genes which could shed new insights into the genetic predisposition of NPC.
References: Cancer Epidemiol Biomarkers Prev. 2015 Aug;24(8):1222-8. (PMID: 26014803)
Cancer Epidemiol Biomarkers Prev. 2019 Oct;28(10):1682-1686. (PMID: 31270100)
Nucleic Acids Res. 2020 Jan 8;48(D1):D835-D844. (PMID: 31777943)
Genes Chromosomes Cancer. 2001 Mar;30(3):254-60. (PMID: 11170282)
Int J Cancer. 2005 Mar 1;113(6):998-1001. (PMID: 15515016)
Cancer Epidemiol Biomarkers Prev. 2007 Nov;16(11):2276-84. (PMID: 18006916)
N Engl J Med. 2005 Apr 28;352(17):1779-90. (PMID: 15858187)
Int J Epidemiol. 2021 Jul 9;50(3):975-986. (PMID: 33787881)
Proc Natl Acad Sci U S A. 2016 Oct 4;113(40):11283-11288. (PMID: 27647909)
Am J Hum Genet. 2008 Sep;83(3):311-21. (PMID: 18691683)
J Virol. 2013 Sep;87(18):10334-47. (PMID: 23864627)
Bioinformatics. 2009 Jul 15;25(14):1754-60. (PMID: 19451168)
Sci Rep. 2019 Nov 28;9(1):17769. (PMID: 31780696)
Int J Cancer. 2014 Oct 1;135(7):1634-45. (PMID: 24615621)
Nucleic Acids Res. 2019 Jan 8;47(D1):D941-D947. (PMID: 30371878)
Cancer Res. 2017 Jul 1;77(13):3591-3604. (PMID: 28484077)
Nature. 2005 Apr 28;434(7037):1144-8. (PMID: 15793561)
Cancer. 2007 Mar 15;109(6):1183-91. (PMID: 17315158)
PLoS Genet. 2012;8(11):e1003103. (PMID: 23209447)
Science. 2015 Jan 23;347(6220):1260419. (PMID: 25613900)
Bioinformatics. 2012 Dec 15;28(24):3326-8. (PMID: 23060615)
Lancet. 2019 Jul 6;394(10192):64-80. (PMID: 31178151)
Blood. 2006 Oct 15;108(8):2770-9. (PMID: 16804112)
Cell. 2018 Apr 5;173(2):371-385.e18. (PMID: 29625053)
Sci Rep. 2019 Jul 9;9(1):9916. (PMID: 31289279)
Cancer Cell. 2013 Jun 10;23(6):718-23. (PMID: 23763999)
Semin Cancer Biol. 2012 Apr;22(2):77-8. (PMID: 22266061)
Nat Genet. 2020 Feb;52(2):208-218. (PMID: 32015527)
Cancer Med. 2019 Sep;8(11):5116-5127. (PMID: 31328403)
Clin Cancer Res. 2020 Dec 15;26(24):6494-6504. (PMID: 32988965)
Nucleic Acids Res. 2010 Sep;38(16):e164. (PMID: 20601685)
Int J Cancer. 2020 May 15;146(10):2923-2931. (PMID: 31705522)
Nat Genet. 2014 Aug;46(8):866-71. (PMID: 24952746)
Blood. 2009 Jan 15;113(3):646-8. (PMID: 18927438)
Nucleic Acids Res. 2012 Jul;40(Web Server issue):W452-7. (PMID: 22689647)
Am J Hum Genet. 2017 Feb 2;100(2):267-280. (PMID: 28132688)
Genet Med. 2015 May;17(5):405-24. (PMID: 25741868)
Nat Commun. 2017 Jan 18;8:14121. (PMID: 28098136)
Cancer Med. 2019 Jun;8(6):2705-2716. (PMID: 30950204)
Nat Rev Cancer. 2018 Mar;18(3):168-185. (PMID: 29376519)
Cell Death Differ. 2012 Mar;19(3):511-22. (PMID: 21941370)
Arch Otolaryngol Head Neck Surg. 2003 Jan;129(1):106-12. (PMID: 12525204)
Genes Chromosomes Cancer. 1999 Jun;25(2):169-75. (PMID: 10338001)
Genet Med. 2019 Apr;21(4):972-981. (PMID: 30287923)
N Engl J Med. 2007 Feb 1;356(5):459-68. (PMID: 17267906)
Nature. 2014 Jan 16;505(7483):302-8. (PMID: 24429628)
Front Oncol. 2018 Jul 31;8:287. (PMID: 30109213)
Cytokine Growth Factor Rev. 2017 Dec;38:10-21. (PMID: 28888485)
Nucleic Acids Res. 2019 Jan 8;47(D1):D886-D894. (PMID: 30371827)
Int J Cancer. 1999 Aug 12;82(4):498-503. (PMID: 10404061)
Genome Med. 2017 Oct 30;9(1):89. (PMID: 29082853)
Proc Natl Acad Sci U S A. 2016 Mar 22;113(12):3317-22. (PMID: 26951679)
Nat Methods. 2014 Apr;11(4):361-2. (PMID: 24681721)
Cancer Res. 2000 Jul 1;60(13):3348-53. (PMID: 10910036)
Adv Sci (Weinh). 2020 Mar 20;7(10):1903727. (PMID: 32440486)
Nat Methods. 2010 Apr;7(4):248-9. (PMID: 20354512)
Cancer Cell Int. 2018 Aug 13;18:110. (PMID: 30123088)
Semin Cancer Biol. 2020 Apr;61:84-100. (PMID: 31521748)
Am J Hum Genet. 2009 Aug;85(2):194-203. (PMID: 19664746)
Cancer. 2017 Jul 15;123(14):2716-2725. (PMID: 28241094)
Nat Commun. 2021 May 24;12(1):3046. (PMID: 34031426)
Curr Protoc Bioinformatics. 2013;43:11.10.1-11.10.33. (PMID: 25431634)
J Clin Oncol. 2015 Oct 10;33(29):3346-55. (PMID: 26351340)
Bioinformatics. 2009 Aug 15;25(16):2078-9. (PMID: 19505943)
Oncogene. 2013 May 23;32(21):2601-13. (PMID: 22869151)
CA Cancer J Clin. 2018 Nov;68(6):394-424. (PMID: 30207593)
Genome Biol. 2019 Jan 3;20(1):1. (PMID: 30606230)
Cancer Res. 2005 Sep 15;65(18):8125-33. (PMID: 16166286)
Genome Med. 2015 Sep 30;7:100. (PMID: 26419432)
J Gen Virol. 2016 Nov;97(11):2989-3006. (PMID: 27655016)
Oncotarget. 2015 Jun 10;6(16):14274-89. (PMID: 25881545)
Cancer. 2019 Jun 1;125(11):1855-1866. (PMID: 30811597)
معلومات مُعتمدة: I1801E0021 Industry Alignment Fund - Industry Collaboration Projects
فهرسة مساهمة: Keywords: exome sequencing; genetic predisposition; germline variants; nasopharyngeal carcinoma
تواريخ الأحداث: Date Created: 20220812 Latest Revision: 20230308
رمز التحديث: 20230309
مُعرف محوري في PubMed: PMC9367457
DOI: 10.3390/cancers14153680
PMID: 35954343
قاعدة البيانات: MEDLINE
الوصف
تدمد:2072-6694
DOI:10.3390/cancers14153680