TY  - GEN
AU  - Cascon Soriano, Alberto
AU  - Pita, Guillermo
AU  - Burnichon, Nelly
AU  - Landa, Iñigo
AU  - López-Jiménez, Elena
AU  - Montero-Conde, Cristina
AU  - Leskelä, Susanna
AU  - Leandro-García, Luis Javier
AU  - Letón, Rocío
AU  - Rodríguez-Antona, Cristina
AU  - Díaz, José Angel
AU  - López-Vidriero, Emilio
AU  - González-Neira, Anna
AU  - Velasco, Ana
AU  - Matias-Guiu, Xavier
AU  - Gimenez-Roqueplo, Anne-Paule
AU  - Robledo Batanero, Mercedes
PY  - 2009
UR  - https://hdl.handle.net/20.500.12105/26073
AB  - The presence of familial history in pheochromocytoma/paraganglioma patients, including syndromic antecedents, leads in the majority of cases to a positive genetic testing for mutations in one of the major susceptibility genes described so far....
AB  - The objective of the study was to discuss clinical criteria helpful in the genetic diagnosis, placing special emphasis on apparently sporadic cases.
AB  - Two hundred thirty-seven nonrelated probands were analyzed for the major susceptibility genes: VHL, RET, SDHB, SDHC, and SDHD. Genetic characterization included both point mutation analysis and gross deletions in the SDH genes performed by multiplex PCR.
AB  - As expected, all syndromic probands were genetically diagnosed with a mutation affecting either RET or VHL. A total of 79.1% (19 of 24) and 18.4% (31 of 168) of patients presenting with either nonsyndromic familial antecedents or apparently sporadic...
AB  - Germline mutations are rare in apparently sporadic probands diagnosed after age 40 yr (3.9% in our series) and mainly involve SDHB. Therefore, we recommend prioritizing SDHB genetic testing in patients developing isolated tumors at any age, especially...
LA  - eng
PB  - Endocrine Society Reviews
KW  - MATERNAL TRANSMISSION
KW  - CLINICAL PRESENTATION
KW  - NECK PARAGANGLIOMA
KW  - SDHD MUTATION
KW  - PREVALENCE
KW  - HEAD
TI  - Genetics of pheochromocytoma and paraganglioma in Spanish patients.
TY  - research article
ER  -