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Sock Hoai Chan and Joanne Ngeow

). Hereditary cancers, or cancer-predisposing syndromes, are associated with inherited germline mutations that increase an individual’s lifetime risk of cancer ( Garber & Offit 2005 ). One example is the hereditary non-polyposis colon cancer (HNPCC), also known

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Yulong Li, Jianhua Zhang, Poorni R Adikaram, James Welch, Bin Guan, Lee S Weinstein, Haobin Chen, and William F Simonds

identified and are presumed to cause partial or complete inactivation of this gene ( Newey et al. 2010 ). It is estimated that at least two thirds of seemingly sporadic parathyroid carcinomas harbor somatic or germline mutations in the CDC73 gene

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Jan P Dumanski, Chiara Rasi, Peyman Björklund, Hanna Davies, Abir S Ali, Malin Grönberg, Staffan Welin, Halfdan Sorbye, Henning Grønbæk, Janet L Cunningham, Lars A Forsberg, Lars Lind, Erik Ingelsson, Peter Stålberg, Per Hellman, and Eva Tiensuu Janson

al . 2001 , Pal et al . 2001 , Jarhult et al . 2010 , Cunningham et al . 2011 , Sei et al . 2015 ). Furthermore, we hypothesized that germline mutations (studied via analyses of blood DNA), that might be identified in familial subjects, should

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Birke Bausch, Ulrich Wellner, Dirk Bausch, Francesca Schiavi, Marta Barontini, Gabriela Sanso, Martin K Walz, Mariola Peczkowska, Georges Weryha, Patrizia Dall'Igna, Giovanni Cecchetto, Gianni Bisogno, Lars C Moeller, Detlef Bockenhauer, Attila Patocs, Karoly Rácz, Dmitry Zabolotnyi, Svetlana Yaremchuk, Iveta Dzivite-Krisane, Frederic Castinetti, David Taieb, Angelica Malinoc, Ernst von Dobschuetz, Jochen Roessler, Kurt W Schmid, Giuseppe Opocher, Charis Eng, and Hartmut P H Neumann

carry germline mutations in one of the ten susceptibility genes: VHL , RET , NF1 , SDHAF2, SDHA, SDHB, SDHC, SDHD, MAX , and TMEM127 ( Neumann et al . 2002 , 2004 , Mannelli et al . 2007 , 2009 , Bayley et al . 2010 , Burnichon et al

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F Cetani, E Pardi, E Ambrogini, P Viacava, S Borsari, M Lemmi, L Cianferotti, P Miccoli, A Pinchera, A Arnold, and C Marcocci

with sporadic PHPT, who had two recurrences after successful surgery over a 17-year follow-up. This unusual history prompted us to perform genetic studies, which led to the identification of a HRPT2 germline mutation associated with independent HRPT2

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Daniela Cordella, Marina Muzza, Luisella Alberti, Paolo Colombo, Pietro Travaglini, Paolo Beck-Peccoz, Laura Fugazzola, and Luca Persani

intervention, both basal and stimulated CT levels were less than 0.2 pg/ml indicating the remission of the disease. A complex germline mutation (see below) was found in both the mother and the child. The 4-year-old boy did not show any thyroid nodule

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Anne-Paule Gimenez-Roqueplo, Mercedes Robledo, and Patricia L M Dahia

. From a molecular perspective, WHO experts report that germline mutations in SDHB confer the highest risk of metastasis and that mutations in ATRX , or SETD2 , high total somatic mutation burden, MAML3 fusion genes, altered WNT pathway, and TERT

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Zi Ying Tan, Taosheng Huang, and Joanne Ngeow

Introduction Hereditary cancers are due to inheritance of cancer predisposition genes in which germline mutations are associated with increased cancer risks ( Garber & Offit 2005 ). Mutations can be in the form of (i) large genomic deletions

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Annika Blank, Anja M Schmitt, Esther Korpershoek, Francien van Nederveen, Thomas Rudolph, Nicole Weber, Räto Thomas Strebel, Ronald de Krijger, Paul Komminoth, and Aurel Perren

et al . 2000 , August et al . 2004 , Kimura et al . 2005 , Strong et al . 2008 ). Recently, loss of SDHB immunohistochemistry was shown to be an excellent indicator of the presence of an SDH germline mutation in PCCs and PGLs ( van Nederveen

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Dewi Astuti, Christopher J Ricketts, Rasheduzzaman Chowdhury, Michael A McDonough, Dean Gentle, Gail Kirby, Susanne Schlisio, Rajappa S Kenchappa, Bruce D Carter, William G Kaelin Jr, Peter J Ratcliffe, Christopher J Schofield, Farida Latif, and Eamonn R Maher

Introduction Germline mutations in the von Hippel–Lindau ( VHL ) tumour suppressor gene and in the B, C and D subunits of succinate dehydrogenase ( SDHB , SDHC and SDHD ) are strongly linked with susceptibility to phaeochromocytoma ( Latif et al