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Germline mutation

Prevalence of PALB2 Mutations in Breast Cancer Patients in Multi-Ethnic Asian Population in Malaysia and Singapore

Sze Yee Phuah, Sheau Yee Lee, Peter Kang, In Nee Kang, Sook-Yee Yoon, Meow Keong Thong, Mikael Hartman, Jen-Hwei Sng, Cheng Har Yip, Nur Aishah Mohd Taib, Soo-Hwang Teo

published 20 Aug 2013

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Integrated Genotypic Analysis of Hedgehog-Related Genes Identifies Subgroups of Keratocystic Odontogenic Tumor with Distinct Clinicopathological Features

Yasuyuki Shimada, Ken-ichi Katsube, Yuji Kabasawa, Kei-ichi Morita, Ken Omura, Akira Yamaguchi, Kei Sakamoto

published 07 Aug 2013

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Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome

Mark Clendenning, Joanne P. Young, Michael D. Walsh, Sonja Woodall, Julie Arnold, Mark Jenkins, Aung Ko Win, John L. Hopper, Kevin Sweet, Steven Gallinger, Christophe Rosty, Susan Parry, Daniel D. Buchanan

published 21 Jun 2013

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Classifications within Molecular Subtypes Enables Identification of BRCA1/BRCA2 Mutation Carriers by RNA Tumor Profiling

Martin J. Larsen, Torben A. Kruse, Qihua Tan, Anne-Vibeke Lænkholm, Martin Bak, Anne E. Lykkesfeldt, Kristina P. Sørensen, Thomas v. O. Hansen, Bent Ejlertsen, Anne-Marie Gerdes, Mads Thomassen

published 21 May 2013

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Novel DNA Variants and Mutation Frequencies of hMLH1 and hMSH2 Genes in Colorectal Cancer in the Northeast China Population

Fulan Hu, Dandan Li, Yibaina Wang, Xiaoping Yao, Wencui Zhang, Jing Liang, Chunqing Lin, Jiaojiao Ren, Lin Zhu, Zhiwei Wu, Shuying Li, Ye Li, Xiaojuan Zhao, Binbin Cui, Xinshu Dong, Suli Tian, Yashuang Zhao

published 03 Apr 2013

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Prevalence of Pathological Germline Mutations of hMLH1 and hMSH2 Genes in Colorectal Cancer

Dandan Li, Fulan Hu, Fan Wang, Binbin Cui, Xinshu Dong, Wencui Zhang, Chunqing Lin, Xia Li, Da Wang, Yashuang Zhao

published 19 Mar 2013

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Comprehensive Analysis of BRCA1, BRCA2 and TP53 Germline Mutation and Tumor Characterization: A Portrait of Early-Onset Breast Cancer in Brazil

Dirce Maria Carraro, Maria Aparecida Azevedo Koike Folgueira, Bianca Cristina Garcia Lisboa, Eloisa Helena Ribeiro Olivieri, Ana Cristina Vitorino Krepischi, Alex Fiorini de Carvalho, Louise Danielle de Carvalho Mota, Renato David Puga, Maria do Socorro Maciel, Rodrigo Augusto Depieri Michelli, Eduardo Carneiro de Lyra, Stana Helena Giorgi Grosso, Fernando Augusto Soares, Maria Isabel Alves de Souza Waddington Achatz, Helena Brentani, Carlos Alberto Moreira-Filho, Maria Mitzi Brentani

published 01 Mar 2013

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Loss of Heterozygosity Is Present in SEC63 Germline Carriers with Polycystic Liver Disease

Manoe J. Janssen, Jody Salomon, René H. M. te Morsche, Joost P. H. Drenth

published 28 Nov 2012

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Highly Efficient and Specific Genome Editing in Silkworm Using Custom TALENs

Sanyuan Ma, Shengling Zhang, Feng Wang, Yong Liu, Yuanyuan Liu, Hanfu Xu, Chun Liu, Ying Lin, Ping Zhao, Qingyou Xia

published 18 Sep 2012

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Identity by Descent Mapping of Founder Mutations in Cancer Using High-Resolution Tumor SNP Data

Eric Letouzé, Aliou Sow, Fabien Petel, Roberto Rosati, Bonald C. Figueiredo, Nelly Burnichon, Anne-Paule Gimenez-Roqueplo, Enzo Lalli, Aurélien de Reyniès

published 02 May 2012

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Effects of MDM2, MDM4 and TP53 Codon 72 Polymorphisms on Cancer Risk in a Cohort Study of Carriers of TP53 Germline Mutations

Shenying Fang, Ralf Krahe, Guillermina Lozano, Younghun Han, Wei Chen, Sean M. Post, Baili Zhang, Charmaine D. Wilson, Linda L. Bachinski, Louise C. Strong, Christopher I. Amos

published 26 May 2010

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