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  • Yang, Xiaohong R.National Cancer Institute, USA (author)

Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations

  • Article/chapterEnglish2016

Publisher, publication year, extent ...

  • 2016-07-23
  • Springer Science and Business Media LLC,2016
  • 9 s.

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:da32ea49-2044-48ca-81cd-d909fe7d2d4f
  • https://lup.lub.lu.se/record/da32ea49-2044-48ca-81cd-d909fe7d2d4fURI
  • https://doi.org/10.1007/s00439-016-1715-1DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:134402647URI

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  • Language:English
  • Summary in:English

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  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • The risk of pancreatic cancer (PC) is increased in melanoma-prone families but the causal relationship between germline CDKN2A mutations and PC risk is uncertain, suggesting the existence of non-CDKN2A factors. One genetic possibility involves patients having mutations in multiple high-risk PC-related genes; however, no systematic examination has yet been conducted. We used next-generation sequencing data to examine 24 putative PC-related genes in 43 PC patients with and 23 PC patients without germline CDKN2A mutations and 1001 controls. For each gene and the four pathways in which they occurred, we tested whether PC patients (overall or CDKN2A+ and CDKN2A− cases separately) had an increased number of rare nonsynonymous variants. Overall, we identified 35 missense variants in PC patients, 14 in CDKN2A+ and 21 in CDKN2A− PC cases. We found nominally significant associations for mismatch repair genes (MLH1, MSH2, MSH6, PMS2) in all PC patients and for ATM, CPA1, and PMS2 in CDKN2A− PC patients. Further, nine CDKN2A+ and four CDKN2A− PC patients had rare potentially deleterious variants in multiple PC-related genes. Loss-of-function variants were only observed in CDKN2A− PC patients, with ATM having the most pathogenic variants. Also, ATM variants (n = 5) were only observed in CDKN2A− PC patients with a family history that included digestive system tumors. Our results suggest that a subset of PC patients may have increased risk because of germline mutations in multiple PC-related genes.

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  • Rotunno, MelissaNational Cancer Institute, USA (author)
  • Xiao, YanziNational Cancer Institute, USA (author)
  • Ingvar, ChristianLund University,Lunds universitet,Kirurgi, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Surgery (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital(Swepub:lu)kir-cin (author)
  • Helgadottir, HildurKarolinska Institutet,Karolinska University Hospital (author)
  • Pastorino, LorenzaOspedale Policlinico San Martino (author)
  • van Doorn, RemcoLeiden University Medical Centre (author)
  • Bennett, HunterNational Cancer Institute, USA (author)
  • Graham, ColeNational Cancer Institute, USA (author)
  • Sampson, Joshua N.National Cancer Institute, USA (author)
  • Malasky, MichaelLeidos Biomedical Research, Inc.,National Cancer Institute, USA (author)
  • Vogt, AurelieLeidos Biomedical Research, Inc. (author)
  • Zhu, BinLeidos Biomedical Research, Inc. (author)
  • Bianchi-Scarra, GiovannaOspedale Policlinico San Martino (author)
  • Bruno, WilliamOspedale Policlinico San Martino (author)
  • Queirolo, PaolaOspedale Policlinico San Martino (author)
  • Fornarini, GiuseppeOspedale Policlinico San Martino (author)
  • Hansson, JohanKarolinska Institutet,Karolinska University Hospital (author)
  • Tuominen, RainerKarolinska Institutet,Karolinska University Hospital (author)
  • Burdett, LaurieLeidos Biomedical Research, Inc. (author)
  • Hicks, BelyndaLeidos Biomedical Research, Inc. (author)
  • Hutchinson, AmyLeidos Biomedical Research, Inc. (author)
  • Jones, KristineLeidos Biomedical Research, Inc. (author)
  • Yeager, MeredithLeidos Biomedical Research, Inc. (author)
  • Chanock, Stephen J.National Cancer Institute, USA (author)
  • Landi, Maria TeresaNational Cancer Institute, USA (author)
  • Höiom, VeronicaKarolinska Institutet,Karolinska University Hospital (author)
  • Olsson, HåkanLund University,Lunds universitet,Medicinsk onkologi,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Tumörmikromiljö,Institutionen för kliniska vetenskaper, Lund,Medical oncology,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Tumor microenvironment,Department of Clinical Sciences, Lund,Skåne University Hospital(Swepub:lu)onk-hol (author)
  • Gruis, NellekeLeiden University Medical Centre (author)
  • Ghiorzo, PaolaOspedale Policlinico San Martino (author)
  • Tucker, Margaret A.National Cancer Institute, USA (author)
  • Goldstein, Alisa M.National Cancer Institute, USA (author)
  • National Cancer Institute, USAKirurgi, Lund (creator_code:org_t)

Related titles

  • In:Human Genetics: Springer Science and Business Media LLC135:11, s. 1241-12490340-67171432-1203

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