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The R337H mutation in TP53 and breast cancer in Brazil |
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| Authors: | Gomes Magda Cb Kotsopoulos Joanne de Almeida Gutemberg Leão Costa Mauricio M Vieira Roberto Filho Firmino de Ag Pitombo Marcos B F Leal Paulo Roberto Royer Robert Zhang Phil Narod Steven A |
| Affiliation: | 1. Department of Health Science Research, Mayo Clinic Arizona, Kragujevac, USA 2. Department of Otolaryngology, Kragujevac, USA 3. Department of Laboratory Medicine and Pathology, Kragujevac, USA 4. Department of Dermatology, Mayo Clinic Rochester, Kragujevac, USA |
| Abstract: | Mutations in FLCN cause Birt-Hogg-Dubé syndrome, an autosomal dominant disorder notable for development of cutaneous fibrofolliculomas or trichodiscomas, a variety of renal tumors, and spontaneous pneumothorax due to cystic lung changes. We present a woman referred for genetic evaluation due to bilateral parotid gland tumors, who was subsequently diagnosed with Birt-Hogg-Dubé syndrome. |
| Keywords: | Brazil Breast cancer TP53 mutation Adrenal cortical carcinomas |
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