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Introduction Male breast cancer (MBC) is a rare disease, representing about 1% of all breast cancers (BCs) and less than 1% of all cancers in men ( 1 ). Germline pathogenic variants in BC genes, particularly BRCA1 , BRCA2 and PALB2 genes
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Imperial College London, Institute of Reproductive and Developmental Biology, London, UK
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Malmö University Hospital, Reproductive Medicine Center, Malmö, Sweden
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( Fig. 1B ). Sixteen men were on the same occasion treated with 300 IU follitropin α rFSH (Gonal-f), and the rest ( n = 17) were untreated. Subsequently, the same dose of rFSH was self-administered three times/week for the rest of the study period, in
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) in association with a number of germline genetic mutations. Of these, the aryl hydrocarbon receptor-interacting protein ( AIP ) gene and the MEN1 gene have been widely studied in the clinical setting. Germline MEN1 mutations lead to multiple
National Institute of Endocrinology CI Parhon, Bucharest, Romania
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National Institute of Endocrinology CI Parhon, Bucharest, Romania
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National Institute of Endocrinology CI Parhon, Bucharest, Romania
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National Institute of Endocrinology CI Parhon, Bucharest, Romania
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frequently described in the syndromes of multiple endocrine neoplasia (MEN) type 2A and type 2B, in certain families with von Hippel–Lindau disease ( VHL ) or in patients with MAX and TMEM127 gene mutation ( 3 , 7 ). Not all bilateral PHEOs are
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-Vickers/Williams-Pollock/Wagenmann–Froboese syndrome --- --- OMIM ® #131100 #171400 #162300 #610755 --- Gene MEN1 RET RET CDKN1B MAX Location 11q13.1 10q11.21 10q11.21 12p13.1 14q23.3 Inheritance Autosomal-dominant Autosomal
The Rappaport Faculty of Medicine, Technion, Haifa, Israel
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The Rappaport Faculty of Medicine, Technion, Haifa, Israel
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The Azrieli Faculty of Medicine, Bar-Ilan, Safed, Israel
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specific etiology, or based on the availability of specific gene testing in the genetics laboratory. Sanger sequencing of the coding exons and untranslated regions was used to identify pathogenic variants in candidate genes AR , NR5A1 , SRD5A2 , CHD7
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Inserm/CNRS UMR 1283/8199, Pasteur Institute of Lille, EGID, Lille, France
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Univ. Lille, Inserm, CHU Lille, U1286 – Infinite – Institute for Translational Research in Inflammation, Lille, France
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Introduction Multiple endocrine neoplasia type 1 (MEN1, OMIM 131100) is an autosomal dominant disease due to mutation in the MEN1 gene, characterized by a broad spectrum of clinical manifestations ( 1 ). The classic clinical triad includes
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Parelsnoer Institute, Utrecht, The Netherlands
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-related penetrance of endocrine tumours in multiple endocrine neoplasia type 1 (MEN1): a multicentre study of 258 gene carriers . Clinical Endocrinology 2007 67 613 – 622 . ( https://doi.org/10.1111/j.1365-2265.2007.02934.x ) 17590169 24 Pieterman CRC de
F.I.R.M.O. Italian Foundation for the Research on Bone Diseases, Florence, Italy
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-endocrine tissues, caused by germline heterozygote inactivating mutations of the MEN1 tumor-suppressor gene. The main affected organs are parathyroid glands, neuroendocrine cells of the gastro-entero-pancreatic tract (GEP), and the anterior pituitary. Multiple
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expected, lower in the normal-weight men compared with the overweight/obese men and the overweight/obese T2DM men, whereas VAT/SAT was comparable in all groups ( P =0.48) ( Table 1 ). In the overweight/obese men and the overweight/obese T2DM men, BMI