). 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
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
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
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
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
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
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
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
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