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PubMed:15328326 JSONTXT

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DisGeNET

Id Subject Object Predicate Lexical cue
T0 1922-1927 gene:6392 denotes PGL-1
T1 1963-1977 disease:C0030421 denotes paragangliomas
T2 1922-1927 gene:6392 denotes PGL-1
T3 2037-2054 disease:C0442867 denotes malignant disease
T4 1922-1927 gene:6392 denotes PGL-1
T5 2086-2096 disease:C0027651 denotes neoplasias
T6 1922-1927 gene:6392 denotes PGL-1
T7 2123-2141 disease:C0549473 denotes thyroid carcinomas
T8 2003-2008 gene:6390 denotes PGL-4
T9 2037-2054 disease:C0442867 denotes malignant disease
T10 2003-2008 gene:6390 denotes PGL-4
T11 2086-2096 disease:C0027651 denotes neoplasias
T12 2003-2008 gene:6390 denotes PGL-4
T13 2123-2141 disease:C0549473 denotes thyroid carcinomas
R1 T0 T1 associated_with PGL-1,paragangliomas
R2 T2 T3 associated_with PGL-1,malignant disease
R3 T4 T5 associated_with PGL-1,neoplasias
R4 T6 T7 associated_with PGL-1,thyroid carcinomas
R5 T8 T9 associated_with PGL-4,malignant disease
R6 T10 T11 associated_with PGL-4,neoplasias
R7 T12 T13 associated_with PGL-4,thyroid carcinomas

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
15328326-0#79#83#gene6392 1315-1319 gene6392 denotes SDHD
15328326-0#30#43#diseaseC0030421 606-812 diseaseC0030421 denotes pulation-based genetic screening for SDHB and SDHD germline mutations in 417 unrelated patients with adrenal or extra-adrenal abdominal or thoracic pheochromocytomas (n = 334) or head and neck paraganglioma
15328326-12#41#46#gene6392 1922-1927 gene6392 denotes PGL-1
15328326-12#122#127#gene6390 2003-2008 gene6390 denotes PGL-4
15328326-12#242#260#diseaseC0549473 2123-2141 diseaseC0549473 denotes thyroid carcinomas
15328326-12#82#96#diseaseC0030421 1963-1977 diseaseC0030421 denotes paragangliomas
15328326-12#242#260#diseaseC0549473 2123-2141 diseaseC0549473 denotes thyroid carcinomas
79#83#gene639230#43#diseaseC0030421 15328326-0#79#83#gene6392 15328326-0#30#43#diseaseC0030421 associated_with SDHD,pulation-based genetic screening for SDHB and SDHD germline mutations in 417 unrelated patients with adrenal or extra-adrenal abdominal or thoracic pheochromocytomas (n = 334) or head and neck paraganglioma
41#46#gene6392242#260#diseaseC0549473 15328326-12#41#46#gene6392 15328326-12#242#260#diseaseC0549473 associated_with PGL-1,thyroid carcinomas
41#46#gene639282#96#diseaseC0030421 15328326-12#41#46#gene6392 15328326-12#82#96#diseaseC0030421 associated_with PGL-1,paragangliomas
41#46#gene6392242#260#diseaseC0549473 15328326-12#41#46#gene6392 15328326-12#242#260#diseaseC0549473 associated_with PGL-1,thyroid carcinomas
122#127#gene6390242#260#diseaseC0549473 15328326-12#122#127#gene6390 15328326-12#242#260#diseaseC0549473 associated_with PGL-4,thyroid carcinomas
122#127#gene639082#96#diseaseC0030421 15328326-12#122#127#gene6390 15328326-12#82#96#diseaseC0030421 associated_with PGL-4,paragangliomas
122#127#gene6390242#260#diseaseC0549473 15328326-12#122#127#gene6390 15328326-12#242#260#diseaseC0549473 associated_with PGL-4,thyroid carcinomas

PubMed_Structured_Abstracts

Id Subject Object Predicate Lexical cue
T1 109-461 BACKGROUND denotes Germline mutations of the genes encoding succinate dehydrogenase subunits B (SDHB) and D (SDHD) predispose to paraganglioma syndromes type 4 (PGL-4) and type 1 (PGL-1), respectively. In both syndromes, pheochromocytomas as well as head and neck paragangliomas occur; however, details for individual risks and other clinical characteristics are unknown.
T2 473-572 OBJECTIVE denotes To determine the differences in clinical features in carriers of SDHB mutations and SDHD mutations.
T3 604-960 METHODS denotes Population-based genetic screening for SDHB and SDHD germline mutations in 417 unrelated patients with adrenal or extra-adrenal abdominal or thoracic pheochromocytomas (n = 334) or head and neck paragangliomas (n = 83), but without syndromic features, from 2 registries based in Germany and central Poland, conducted from April 1, 2000, until May 15, 2004.
T4 984-1099 METHODS denotes Demographic and clinical findings with respect to gene mutation in SDHB vs SDHD compared with nonmutation carriers.
T5 1109-1867 RESULTS denotes A total of 49 (12%) of 417 registrants carried SDHB or SDHD mutations. In addition, 28 SDHB and 23 SDHD mutation carriers were newly detected among relatives of these carriers. Comparison of 53 SDHB and 47 SDHD total mutation carriers showed similar ages at diagnosis but differences in penetrance and of tumor manifestations. Head and neck paragangliomas (10/32 vs 27/34, respectively, P<.001) and multifocal (9/32 vs 25/34, respectively, P<.001) tumors were more frequent in carriers of SDHD mutations. In contrast, SDHB mutation carriers have an increased frequency of malignant disease (11/32 vs 0/34, P<.001). Renal cell cancer was observed in 2 SDHB mutation carriers and papillary thyroid cancer in 1 SDHB mutation carrier and 1 SDHD mutation carrier.
T6 1881-2237 CONCLUSIONS denotes In contrast with SDHD mutation carriers (PGL-1) who have more frequent multifocal paragangliomas, SDHB mutation carriers (PGL-4) are more likely to develop malignant disease and possibly extraparaganglial neoplasias, including renal cell and thyroid carcinomas. Appropriate and timely clinical screening is recommended in all patients with PGL-1 and PGL-4.