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Germline mutation

Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals

Simon L. Girard, Cynthia V. Bourassa, Louis-Philippe Lemieux Perreault, Marc-André Legault, Amina Barhdadi, Amirthagowri Ambalavanan, Mara Brendgen, Frank Vitaro, Anne Noreau, Ginette Dionne, Richard E. Tremblay, Patrick A. Dion, Michel Boivin, Marie-Pierre Dubé, Guy A. Rouleau

published 10 Oct 2016

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Accumulation of Deleterious Passenger Mutations Is Associated with the Progression of Hepatocellular Carcinoma

Magdalena A. Budzinska, Thomas Tu, William M. H. d’Avigdor, Geoffrey W. McCaughan, Fabio Luciani, Nicholas A. Shackel

published 15 Sep 2016

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Interaction between Hormonal Receptor Status, Age and Survival in Patients with BRCA1/2 Germline Mutations: A Systematic Review and Meta-Regression

Arnoud J. Templeton, Laura Diez Gonzalez, Francisco E. Vera-Badillo, Ariadna Tibau, Robyn Goldstein, Boštjan Šeruga, Amirrtha Srikanthan, Atanasio Pandiella, Eitan Amir, Alberto Ocana

published 05 May 2016

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Identification of Two Novel HOXB13 Germline Mutations in Portuguese Prostate Cancer Patients

Sofia Maia, Marta Cardoso, Pedro Pinto, Manuela Pinheiro, Catarina Santos, Ana Peixoto, Maria José Bento, Jorge Oliveira, Rui Henrique, Carmen Jerónimo, Manuel R. Teixeira

published 15 Jul 2015

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Prevalence of Germline Mutations in Genes Engaged in DNA Damage Repair by Homologous Recombination in Patients with Triple-Negative and Hereditary Non-Triple-Negative Breast Cancers

Pawel Domagala, Anna Jakubowska, Katarzyna Jaworska-Bieniek, Katarzyna Kaczmarek, Katarzyna Durda, Agnieszka Kurlapska, Cezary Cybulski, Jan Lubinski

published 17 Jun 2015

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Risk Factors Associated with Colorectal Cancer in a Subset of Patients with Mutations in MLH1 and MSH2 in Taiwan Fulfilling the Amsterdam II Criteria for Lynch Syndrome

Abram Bunya Kamiza, Ling-Ling Hsieh, Reiping Tang, Huei-Tzu Chien, Chih-Hsiung Lai, Li-Ling Chiu, Tsai-Ping Lo, Kuan-Yi Hung, Chun-Yi Wang, Jeng-Fu You, Chao A. Hsiung, Chih-Ching Yeh

published 08 Jun 2015

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Identification of a Comprehensive Spectrum of Genetic Factors for Hereditary Breast Cancer in a Chinese Population by Next-Generation Sequencing

Xiaochen Yang, Jiong Wu, Jingsong Lu, Guangyu Liu, Genhong Di, Canming Chen, Yifeng Hou, Menghong Sun, Wentao Yang, Xiaojing Xu, Ying Zhao, Xin Hu, Daqiang Li, Zhigang Cao, Xiaoyan Zhou, Xiaoyan Huang, Zhebin Liu, Huan Chen, Yanzi Gu, Yayun Chi, Xia Yan, Qixia Han, Zhenzhou Shen, Zhimin Shao, Zhen Hu

published 30 Apr 2015

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Mismatch Repair-Deficient Crypt Foci in Lynch Syndrome – Molecular Alterations and Association with Clinical Parameters

Laura Staffa, Fabian Echterdiek, Nina Nelius, Axel Benner, Wiebke Werft, Bernd Lahrmann, Niels Grabe, Martin Schneider, Mirjam Tariverdian, Magnus von Knebel Doeberitz, Hendrik Bläker, Matthias Kloor

published 27 Mar 2015

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Mutation Analysis of Inhibitory Guanine Nucleotide Binding Protein Alpha (GNAI) Loci in Young and Familial Pituitary Adenomas

Hande Demir, Iikki Donner, Leena Kivipelto, Outi Kuismin, Camilla Schalin-Jäntti, Ernesto De Menis, Auli Karhu

published 07 Oct 2014

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Systematic Study on Genetic and Epimutational Profile of a Cohort of Amsterdam Criteria-Defined Lynch Syndrome in Singapore

Yanqun Liu, Min Hoe Chew, Xue Wei Goh, Soo Yong Tan, Carol Tien Tau Loi, Yuen Ming Tan, Hai Yang Law, Poh Koon Koh, Choong Leong Tang

published 07 Apr 2014

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Monoallelic Germline TSC1 Mutations Are Permissive for T Lymphocyte Development and Homeostasis in Tuberous Sclerosis Complex Individuals

Karolina Pilipow, Veronica Basso, Nicola Migone, Anna Mondino

published 14 Mar 2014

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Transcriptional Defect of an Inherited NKX2-5 Haplotype Comprising a SNP, a Nonsynonymous and a Synonymous Mutation, Associated with Human Congenital Heart Disease

Stella Marie Reamon-Buettner, Evelyn Sattlegger, Yari Ciribilli, Alberto Inga, Armin Wessel, Jürgen Borlak

published 20 Dec 2013

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Identification and Characterization of CDH1 Germline Variants in Sporadic Gastric Cancer Patients and in Individuals at Risk of Gastric Cancer

Marica Garziera, Vincenzo Canzonieri, Renato Cannizzaro, Silvano Geremia, Laura Caggiari, Mariangela De Zorzi, Stefania Maiero, Enrico Orzes, Tiziana Perin, Stefania Zanussi, Paolo De Paoli, Valli De Re

published 29 Oct 2013

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