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Clinical Characteri...
Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention
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- Bausch, Birke (författare)
- Albert Ludwigs University, Germany
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- Schiavi, Francesca (författare)
- Ist Ricovero and Cura Carattere Science, Italy
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- Ni, Ying (författare)
- Cleveland Clin, OH 44106 USA
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- Welander, Jenny (författare)
- Linköpings universitet,Avdelningen för mikrobiologi och molekylär medicin,Medicinska fakulteten
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- Patocs, Attila (författare)
- Semmelweis University, Hungary; Semmelweis University, Hungary
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- Ngeow, Joanne (författare)
- National Cancer Centre Singapore, Singapore; Nanyang Technology University, Singapore
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- Wellner, Ulrich (författare)
- University of Lubeck, Germany
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- Malinoc, Angelica (författare)
- Albert Ludwigs University, Germany
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- Taschin, Elisa (författare)
- Ist Ricovero and Cura Carattere Science, Italy
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- Barbon, Giovanni (författare)
- Ist Ricovero and Cura Carattere Science, Italy
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- Lanza, Virginia (författare)
- Ist Ricovero and Cura Carattere Science, Italy
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- Söderkvist, Peter (författare)
- Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk patologi och klinisk genetik
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- Stenman, Adam (författare)
- Karolinska Institutet
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- Larsson, Catharina (författare)
- Karolinska Institute, Sweden
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- Svahn, Fredrika (författare)
- Karolinska Institute, Sweden
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- Chen, Jin-Lian (författare)
- Cleveland Clin, OH 44106 USA
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- Marquard, Jessica (författare)
- Cleveland Clin, OH 44106 USA
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- Fraenkel, Merav (författare)
- Hadassah Hebrew University, Israel
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- Walter, Martin A. (författare)
- University Hospital, Switzerland
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- Peczkowska, Mariola (författare)
- Institute Cardiol, Poland
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- Prejbisz, Aleksander (författare)
- Institute Cardiol, Poland
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- Jarzab, Barbara (författare)
- Maria Sklodowska Curie Mem Cancer Centre and Institute Oncol, Poland
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- Hasse-Lazar, Kornelia (författare)
- Maria Sklodowska Curie Mem Cancer Centre and Institute Oncol, Poland
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- Petersenn, Stephan (författare)
- Centre Endocrine Tumors, Germany
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- Moeller, Lars C. (författare)
- University of Duisburg Essen, Germany
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- Meyer, Almuth (författare)
- HELIOS Klin, Germany
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- Reisch, Nicole (författare)
- Ludwigs Maximilians University of Munich, Germany
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- Trupka, Arnold (författare)
- City Hospital, Germany
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- Brase, Christoph (författare)
- University of Erlangen Nurnberg, Germany
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- Galiano, Matthias (författare)
- University Hospital Erlangen, Germany
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- Preuss, Simon F. (författare)
- University of Cologne, Germany
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- Kwok, Pingling (författare)
- University of Regensburg, Germany
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- Lendvai, Nikoletta (författare)
- Semmelweis University, Hungary
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- Berisha, Gani (författare)
- Albert Ludwigs University, Germany
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- Makay, Ozer (författare)
- Ege University, Turkey
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- Boedeker, Carsten C. (författare)
- HELIOS Hanseklinikum Stralsund, Germany
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- Weryha, Georges (författare)
- University of Nancy, France
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- Racz, Karoly (författare)
- Semmelweis University, Hungary
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- Januszewicz, Andrzej (författare)
- Institute Cardiol, Poland
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- Walz, Martin K. (författare)
- Kliniken Essen Mitte, Germany; Kliniken Essen Mitte, Germany
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- Gimm, Oliver (författare)
- Linköpings universitet,Avdelningen för Kirurgi, Ortopedi och Onkologi,Medicinska fakulteten,Region Östergötland, Kirurgiska kliniken US
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- Opocher, Giuseppe (författare)
- Ist Ricovero and Cura Carattere Science, Italy
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- Eng, Charis (författare)
- Cleveland Clin, OH 44106 USA; Cleveland Clin, OH 44106 USA
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- Neumann, Hartmut P. H. (författare)
- Albert Ludwigs University, Germany
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(creator_code:org_t)
- AMER MEDICAL ASSOC, 2017
- 2017
- Engelska.
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Ingår i: JAMA Oncology. - : AMER MEDICAL ASSOC. - 2374-2437 .- 2374-2445. ; 3:9, s. 1204-1212
- Relaterad länk:
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https://jamanetwork....
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Ämnesord
Stäng
- IMPORTANCE Effective cancer prevention is based on accurate molecular diagnosis and results of genetic family screening, genotype-informed risk assessment, and tailored strategies for early diagnosis. The expanding etiology for hereditary pheochromocytomas and paragangliomas has recently included SDHA, TMEM127, MAX, and SDHAF2 as susceptibility genes. Clinical management guidelines for patients with germline mutations in these 4 newly included genes are lacking. OBJECTIVE To study the clinical spectra and age-related penetrance of individuals with mutations in the SDHA, TMEM127, MAX, and SDHAF2 genes. DESIGN, SETTING, AND PATIENTS This study analyzed the prospective, longitudinally followed up European-American-Asian Pheochromocytoma-Paraganglioma Registry for prevalence of SDHA, TMEM127, MAX, and SDHAF2 germline mutation carriers from 1993 to 2016. Genetic predictive testing and clinical investigation by imaging from neck to pelvis was offered to mutation-positive registrants and their relatives to clinically characterize the pheochromocytoma/paraganglioma diseases associated with mutations of the 4 new genes. MAIN OUTCOMES AND MEASURES Prevalence and spectra of germline mutations in the SDHA, TMEM127, MAX, and SDHAF2 genes were assessed. The clinical features of SDHA, TMEM127, MAX, and SDHAF2 disease were characterized. RESULTS Of 972 unrelated registrants without mutations in the classic pheochromocytoma- and paraganglioma-associated genes (632 female [65.0%] and 340 male [35.0%]; age range, 8-80; mean [SD] age, 41.0 [13.3] years), 58 (6.0%) carried germline mutations of interest, including 29 SDHA, 20 TMEM127, 8 MAX, and 1 SDHAF2. Fifty-three of 58 patients (91%) had familial, multiple, extra-adrenal, and/or malignant tumors and/or were younger than 40 years. Newly uncovered are 7 of 63 (11%) malignant pheochromocytomas and paragangliomas in SDHA and TMEM127 disease. SDHA disease occurred as early as 8 years of age. Extra-adrenal tumors occurred in 28 mutation carriers (48%) and in 23 of 29 SDHA mutation carriers (79%), particularly with head and neck paraganglioma. MAX disease occurred almost exclusively in the adrenal glands with frequently bilateral tumors. Penetrance in the largest subset, SDHA carriers, was 39% at 40 years of age and is statistically different in index patients (45%) vs mutation-carrying relatives (13%; P amp;lt; .001). CONCLUSIONS AND RELEVANCE The SDHA, TMEM127, MAX, and SDHAF2 genes may contribute to hereditary pheochromocytoma and paraganglioma. Genetic testing is recommended in patients at clinically high risk if the classic genes are mutation negative. Gene-specific prevention and/or early detection requires regular, systematic whole-body investigation.
Ämnesord
- 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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Bausch, Birke
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Schiavi, Frances ...
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Ni, Ying
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Welander, Jenny
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Patocs, Attila
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Ngeow, Joanne
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visa fler...
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Wellner, Ulrich
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Malinoc, Angelic ...
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Taschin, Elisa
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Barbon, Giovanni
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Lanza, Virginia
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Söderkvist, Pete ...
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Stenman, Adam
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Larsson, Cathari ...
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Svahn, Fredrika
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Chen, Jin-Lian
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Marquard, Jessic ...
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Fraenkel, Merav
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Walter, Martin A ...
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Peczkowska, Mari ...
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Prejbisz, Aleksa ...
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Jarzab, Barbara
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Hasse-Lazar, Kor ...
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Petersenn, Steph ...
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Moeller, Lars C.
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Meyer, Almuth
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Reisch, Nicole
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Trupka, Arnold
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Brase, Christoph
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Galiano, Matthia ...
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Preuss, Simon F.
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Kwok, Pingling
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Lendvai, Nikolet ...
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Berisha, Gani
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Makay, Ozer
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Boedeker, Carste ...
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Weryha, Georges
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Racz, Karoly
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Januszewicz, And ...
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Walz, Martin K.
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Gimm, Oliver
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Opocher, Giusepp ...
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Eng, Charis
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Neumann, Hartmut ...
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- MEDICIN OCH HÄLSOVETENSKAP
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- MEDICIN OCH HÄLSOVETENSKAP
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- Artiklar i publikationen
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JAMA Oncology
- Av lärosätet
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Linköpings universitet
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Karolinska Institutet