). 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
-stage diagnosis and increased chance of cure. CDC73 , formerly known as HRPT2 , is a key gene implicated in development of parathyroid cancer. It is a putative tumor suppressor gene with 17 exons ( Fig. 1 ), and multiple germline and somatic mutations have been
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
Yuji Ikeda, Kazuma Kiyotani, Poh Yin Yew, Taigo Kato, Kenji Tamura, Kai Lee Yap, Sarah M Nielsen, Jessica L Mester, Charis Eng, Yusuke Nakamura, and Raymon H Grogan
breast ( Eng 1993 ). PTEN is one of the causative genes of CS or Cowden-like syndrome (CLS) ( Liaw et al . 1997 ), and germline mutations are found in 25–85% of CS patients and <5% of CLS patients ( Marsh et al . 1998 , Tan et al . 2011 ). Germline
Daniela Cordella, Marina Muzza, Luisella Alberti, Paolo Colombo, Pietro Travaglini, Paolo Beck-Peccoz, Laura Fugazzola, and Luca Persani
-oncogene have been associated with several inherited and non-inherited diseases. Inactivating mutations cause familial and sporadic Hirschsprung disease (OMIM*142623), a syndrome of congenital absence of enteric innervation ( Romeo et al. 1994 ). Germline
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
Maria Grazia Borrello, Antonella Aiello, Bernard Peissel, Maria Grazia Rizzetti, Piera Mondellini, Debora Degl'Innocenti, Veronica Catalano, Morena Gobbo, Paola Collini, Italia Bongarzone, Marco A Pierotti, Angela Greco, and Ettore Seregni
-of-function alterations. Somatic rearrangements of RET are present in about one-third of papillary thyroid carcinomas (reviewed in Greco et al . (2009) ), whereas specific germline activating mutations of RET are causally involved in hereditary medullary thyroid
Yilun Deng, Shahida K Flores, ZiMing Cheng, Yuejuan Qin, Robin C Schwartz, Carl Malchoff, and Patricia L M Dahia
Dear Editor, Germline mutations of the endomembrane-encoding gene TMEM127 confer susceptibility to neural crest-derived tumors pheochromocytomas (PHEOs) ( Qin et al . 2010 ), and have also been found in isolated renal cell carcinomas (RCCs
Bora E Baysal and Eamonn R Maher
(tumors were only manifest after paternal transmission, Fig. 1 ) was reported ( van der Mey et al . 1989 ). Ten years later, Baysal et al . (2000) reported the seminal finding that familial HNPGL was associated with germline mutations in succinate
Esther Korpershoek, Bart-Jeroen Petri, Francien H van Nederveen, Winand N M Dinjens, Albert A Verhofstad, Wouter W de Herder, Sonja Schmid, Aurel Perren, Paul Komminoth, and Ronald R de Krijger
germline mutations of the RET protooncogene, which are mostly (80–96%) found in RET exons 10, 11, and 16 ( Thakker 2001 , Peczkowska & Januszewicz 2005 ). Somatic RET mutations have also been found in sporadic PCC affecting exons 10, 11, and 16