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ea0011p528 | Endocrine tumours and neoplasia | ECE2006

Characterization of familial non-syndromic pheochromocytoma

Opocher G , Schiavi F , Iacobone M , Sattarova S , Erlic Z , Martella M , Mian C , Zambonin L , De Lazzari P , Murgia A , Favia G , Mantero F

Hereditable forms account for 3040% of pheochromocytomas (pheo). The role of germ-line mutation of VHL, RET, SDHB, SDHD gene has been largely elucidated. However, genotyping a group of 172 sporadic or familial pheo, we have characterize five unrelated probands with familial pheo without any sequence variants of RET (7 exons), or of the entire coding sequence of VHL, SDHB, SDHC or SDHD.The proband #1 had a bilateral pheo when 32 and a local recurren...

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ea0032p1099 | Thyroid cancer | ECE2013

The prevalence, the tumorigenic role and the functional implications of rare BRAF alterations in a cohort of Italian patients with thyroid carcinomas

Pezzani Raffaele , Barollo Susi , Cristiani Andrea , Redaelli Marco , Zambonin Laura , Rubin Beatrice , Bertazza Loris , Zane Mariangela , Mucignat-Caretta Carla , Bulfone Alessandro , Pennelli Gianmaria , Rosa Pelizzo Maria , Mantero Franco , Moro Stefano , Mian Caterina

Background: Papillary thyroid carcinoma (PTC) is the most common malignant tumor of the thyroid gland, accounting for 7480% of all thyroid cancers. The T1799T>A transversion is an activating mutation of the BRAF oncogene that is common in conventional PTC and specific to it.Aims: To study the prevalence, tumorigenic role and biomolecular implications of rare BRAF variants in a large cohort of patients.Study desig...

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Endocrine Abstracts

Characterization of familial non-syndromic pheochromocytoma

The prevalence, the tumorigenic role and the functional implications of rare BRAF alterations in a cohort of Italian patients with thyroid carcinomas

BiosciAbstracts