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Germline BRCA2 K3326X and CHEK2 I157T mutations increase risk for sporadic pancreatic ductal adenocarcinoma
O. Obazee, L. Archibugi, A. Andriulli, P. Soucek, E. Małecka-Panas, A. Ivanauskas, T. Johnson, M. Gazouli, T. Pausch, RT. Lawlor, GM. Cavestro, AC. Milanetto, M. Di Leo, C. Pasquali, P. Hegyi, A. Szentesi, CE. Radu, C. Gheorghe, GE....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, práce podpořená grantem
Grantová podpora
NV16-28375A
MZ0
CEP - Centrální evidence projektů
PubMed
30672594
DOI
10.1002/ijc.32127
Knihovny.cz E-zdroje
- MeSH
- checkpoint kinasa 2 genetika MeSH
- duktální karcinom slinivky břišní genetika MeSH
- genetická predispozice k nemoci MeSH
- geny BRCA2 * MeSH
- jednonukleotidový polymorfismus MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádory slinivky břišní genetika MeSH
- protein BRCA2 genetika MeSH
- senioři MeSH
- studie případů a kontrol MeSH
- zárodečné mutace MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Rare truncating BRCA2 K3326X (rs11571833) and pathogenic CHEK2 I157T (rs17879961) variants have previously been implicated in familial pancreatic ductal adenocarcinoma (PDAC), but not in sporadic cases. The effect of both mutations in important DNA repair genes on sporadic PDAC risk may shed light on the genetic architecture of this disease. Both mutations were genotyped in germline DNA from 2,935 sporadic PDAC cases and 5,626 control subjects within the PANcreatic Disease ReseArch (PANDoRA) consortium. Risk estimates were evaluated using multivariate unconditional logistic regression with adjustment for possible confounders such as sex, age and country of origin. Statistical analyses were two-sided with p values <0.05 considered significant. K3326X and I157T were associated with increased risk of developing sporadic PDAC (odds ratio (ORdom ) = 1.78, 95% confidence interval (CI) = 1.26-2.52, p = 1.19 × 10-3 and ORdom = 1.74, 95% CI = 1.15-2.63, p = 8.57 × 10-3 , respectively). Neither mutation was significantly associated with risk of developing early-onset PDAC. This retrospective study demonstrates novel risk estimates of K3326X and I157T in sporadic PDAC which suggest that upon validation and in combination with other established genetic and non-genetic risk factors, these mutations may be used to improve pancreatic cancer risk assessment in European populations. Identification of carriers of these risk alleles as high-risk groups may also facilitate screening or prevention strategies for such individuals, regardless of family history.
ARC Net Applied Research on Cancer Centre University of Verona Verona Italy
Department of Digestive Tract Diseases Medical University of Lodz Lodz Poland
Department of Gastroenterology Lithuanian University of Health Sciences Kaunas Lithuania
Department of Hematology Medical University of Lodz Lodz Poland
Department of Laboratory Medicine University Hospital of Padova Padova Italy
Department of Massa Carrara Oncological Azienda USL Toscana Nord Ovest Carrara Italy
Department of Surgery Konstantopouleion General Hospital of Athens Athens Greece
Department of Surgery Oncology and Gastroenterology DiSCOG University of Padova Padova Italy
Department of Surgery Pancreas Institute University and Hospital Trust of Verona Verona Italy
Dipartimento di Biologia Università di Pisa Pisa Italy
Division of Cancer Epidemiology German Cancer Research Center Heidelberg Germany
Division of General and Transplant Surgery Pisa University Hospital Pisa Italy
Fundeni Clinical Institute Bucharest Romania
Genomic Epidemiology Group German Cancer Research Center Heidelberg Germany
Institute for Translational Medicine and 1st Department of Medicine University of Pécs Pécs Hungary
Klinik für Allgemein Viszeral und Transplantationschirurgie Heidelberg Germany
Pancreas Unit Department of Digestive System Sant'Orsola Malpighi Hospital Bologna Italy
Pathologisches Institut der Universität Heidelberg Heidelberg Germany
Citace poskytuje Crossref.org
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