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Search: WFRF:(Sampson Joshua N) > (2016) > Journal article > Hansson Johan > Multiple rare varia...

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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

Yang, Xiaohong R. (author)
National Cancer Institute, USA
Rotunno, Melissa (author)
National Cancer Institute, USA
Xiao, Yanzi (author)
National Cancer Institute, USA
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Ingvar, Christian (author)
Lund 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
Helgadottir, Hildur (author)
Karolinska Institutet,Karolinska University Hospital
Pastorino, Lorenza (author)
Ospedale Policlinico San Martino
van Doorn, Remco (author)
Leiden University Medical Centre
Bennett, Hunter (author)
National Cancer Institute, USA
Graham, Cole (author)
National Cancer Institute, USA
Sampson, Joshua N. (author)
National Cancer Institute, USA
Malasky, Michael (author)
Leidos Biomedical Research, Inc.,National Cancer Institute, USA
Vogt, Aurelie (author)
Leidos Biomedical Research, Inc.
Zhu, Bin (author)
Leidos Biomedical Research, Inc.
Bianchi-Scarra, Giovanna (author)
Ospedale Policlinico San Martino
Bruno, William (author)
Ospedale Policlinico San Martino
Queirolo, Paola (author)
Ospedale Policlinico San Martino
Fornarini, Giuseppe (author)
Ospedale Policlinico San Martino
Hansson, Johan (author)
Karolinska Institutet,Karolinska University Hospital
Tuominen, Rainer (author)
Karolinska Institutet,Karolinska University Hospital
Burdett, Laurie (author)
Leidos Biomedical Research, Inc.
Hicks, Belynda (author)
Leidos Biomedical Research, Inc.
Hutchinson, Amy (author)
Leidos Biomedical Research, Inc.
Jones, Kristine (author)
Leidos Biomedical Research, Inc.
Yeager, Meredith (author)
Leidos Biomedical Research, Inc.
Chanock, Stephen J. (author)
National Cancer Institute, USA
Landi, Maria Teresa (author)
National Cancer Institute, USA
Höiom, Veronica (author)
Karolinska Institutet,Karolinska University Hospital
Olsson, Håkan (author)
Lund 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
Gruis, Nelleke (author)
Leiden University Medical Centre
Ghiorzo, Paola (author)
Ospedale Policlinico San Martino
Tucker, Margaret A. (author)
National Cancer Institute, USA
Goldstein, Alisa M. (author)
National Cancer Institute, USA
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 (creator_code:org_t)
2016-07-23
2016
English 9 s.
In: Human Genetics. - : Springer Science and Business Media LLC. - 0340-6717 .- 1432-1203. ; 135:11, s. 1241-1249
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • 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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)

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