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Germline pathogenic...
Germline pathogenic variants in patients with high-grade gastroenteropancreatic neuroendocrine neoplasms.
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- Venizelos, Andreas (författare)
- University of Bergen,Haukeland University Hospital
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- Sorbye, Halfdan (författare)
- Haukeland University Hospital,University of Bergen
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- Elvebakken, Hege (författare)
- Ålesund Hospital,Norwegian University of Science and Technology
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- Perren, Aurel (författare)
- University of Bern
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- Lothe, Inger Marie B (författare)
- Oslo university hospital
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- Couvelard, Anne (författare)
- Hopital Bichat-Claude-Bernard AP-HP
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- Hjortland, Geir Olav (författare)
- Oslo university hospital
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- Sundlöv, Anna (författare)
- Lund University,Lunds universitet,Medicinsk strålningsfysik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Medical Radiation Physics, Lund,Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital
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- Svensson, Johanna (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för onkologi,Institute of Clinical Sciences, Department of Oncology,Sahlgrenska University Hospital
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- Garresori, Harrish (författare)
- Stavanger University Hospital
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- Kersten, Christian (författare)
- Sørlandet Hospital
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- Hofsli, Eva (författare)
- St. Olav’s University Hospital,Norwegian University of Science and Technology
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- Detlefsen, Sönke (författare)
- University of Southern Denmark,Odense University Hospital
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- Vestermark, Lene W (författare)
- Odense University Hospital
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- Ladekarl, Morten (författare)
- Aarhus University Hospital,Aalborg University Hospital
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- Tabaksblat, Elizaveta Mitkina (författare)
- Aalborg University Hospital
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- Knappskog, Stian (författare)
- University of Bergen,Haukeland University Hospital
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(creator_code:org_t)
- 2023
- 2023
- Engelska.
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Ingår i: Endocrine-Related Cancer. - 1351-0088 .- 1479-6821. ; 30:10
- Relaterad länk:
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http://dx.doi.org/10... (free)
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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Abstract
Ämnesord
Stäng
- High-grade gastroenteropancreatic (HG-GEP) neuroendocrine neoplasms (NENs) are highly aggressive cancers. The molecular etiology of these tumors remains unclear, and the prevalence of pathogenic germline variants in patients with HG-GEP NENs is unknown. We assessed sequencing data of 360 cancer genes in normal tissue from 240 patients with HG-GEP NENs; 198 patients with neuroendocrine carcinomas (NECs) and 42 with grade 3 neuroendocrine tumors (NET G3). Applying strict criteria, we identified pathogenic germline variants and compared the frequency with previously reported data from 33 different cancer types. We found a recurrent MYOC variant in three patients and a recurrent MUTYH variant in two patients, indicating that these genes may be important underlying risk factors for HG-GEP NENs when mutated. Further, germline variants were found in canonical tumor-suppressor genes, such as TP53, RB1, BRIP1 and BAP1. Overall, we found that 4.5% of patients with NEC and 9.5% of patients with NET G3 carry germline pathogenic or highly likely pathogenic variants. Applying identical criteria for variant classification in silico to mined data from 33 other cancer types, the median percentage of patients carrying pathogenic or highly likely pathogenic variants was 3.4% (range: 0-17%). The patients with NEC and pathogenic germline variants had a median overall survival of 9 months, similar to what is generally expected for metastatic GEP NECs. A patient with NET G3 and pathogenic MUTYH variant had much shorter overall survival than expected. The fraction of HG-GEP NENs with germline pathogenic variants is relatively high, but still <10%, meaning that that germline mutations cannot be the major underlying cause of HG-GEP NENs.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Nyckelord
- Humans
- Pancreatic Neoplasms
- genetics
- pathology
- Germ-Line Mutation
- Gastrointestinal Neoplasms
- genetics
- Neuroendocrine Tumors
- pathology
- Carcinoma
- Neuroendocrine
- pathology
- Intestinal Neoplasms
- genetics
- pathology
- Stomach Neoplasms
- genetics
- pathology
- etiology
- germline
- HG-GEP NEN
- pathogenic variants
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas
- Av författaren/redakt...
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Venizelos, Andre ...
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Sorbye, Halfdan
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Elvebakken, Hege
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Perren, Aurel
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Lothe, Inger Mar ...
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Couvelard, Anne
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Hjortland, Geir ...
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Sundlöv, Anna
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Svensson, Johann ...
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Garresori, Harri ...
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Kersten, Christi ...
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Hofsli, Eva
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Detlefsen, Sönke
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Vestermark, Lene ...
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Ladekarl, Morten
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Tabaksblat, Eliz ...
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Knappskog, Stian
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- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Cancer och onkol ...
- Artiklar i publikationen
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Endocrine-Relate ...
- Av lärosätet
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Göteborgs universitet
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Lunds universitet