Search: WFRF:(Vogt Aurelie)
> Graham Cole >
Multiple rare varia...
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
-
show more...
-
- 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
-
show less...
-
(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
- Related links:
-
http://dx.doi.org/10...
-
show more...
-
https://europepmc.or...
-
https://lup.lub.lu.s...
-
https://doi.org/10.1...
-
http://kipublication...
-
show less...
Abstract
Subject headings
Close
- 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)
Publication and Content Type
- art (subject category)
- ref (subject category)
Find in a library
To the university's database
- By the author/editor
-
Yang, Xiaohong R ...
-
Rotunno, Melissa
-
Xiao, Yanzi
-
Ingvar, Christia ...
-
Helgadottir, Hil ...
-
Pastorino, Loren ...
-
show more...
-
van Doorn, Remco
-
Bennett, Hunter
-
Graham, Cole
-
Sampson, Joshua ...
-
Malasky, Michael
-
Vogt, Aurelie
-
Zhu, Bin
-
Bianchi-Scarra, ...
-
Bruno, William
-
Queirolo, Paola
-
Fornarini, Giuse ...
-
Hansson, Johan
-
Tuominen, Rainer
-
Burdett, Laurie
-
Hicks, Belynda
-
Hutchinson, Amy
-
Jones, Kristine
-
Yeager, Meredith
-
Chanock, Stephen ...
-
Landi, Maria Ter ...
-
Höiom, Veronica
-
Olsson, Håkan
-
Gruis, Nelleke
-
Ghiorzo, Paola
-
Tucker, Margaret ...
-
Goldstein, Alisa ...
-
show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Basic Medicine
-
and Medical Genetics
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Clinical Medicin ...
-
and Cancer and Oncol ...
- Articles in the publication
-
Human Genetics
- By the university
-
Lund University
-
Karolinska Institutet