Germline mutations causing familial lung cancer.
作者： Koichi Tomoshige , Keitaro Matsumoto , Tomoshi Tsuchiya , Masahiro Oikawa , Takuro Miyazaki
DOI: 10.1038/JHG.2015.75
关键词:
摘要: Genetic factors are important in lung cancer, but as most cancers sporadic, little is known about inherited genetic factors. We identified a three-generation family with suspected autosomal dominant cancer susceptibility. Sixteen individuals the had cancer. To identify gene(s) that cause this pedigree, we extracted DNA from peripheral blood of three and one cancer-free control member performed whole-exome sequencing. 41 alterations 40 genes all affected members not unaffected member. These were considered candidate mutations for familial Next, to somatic and/or these among sporadic cancers, exon target enrichment sequencing using 192 samples patients. detected 'candidate' multiple samples; MAST1, CENPE, CACNB2 LCT promising genes. In addition, MAST1 gene was located putative cancer-linked locus pedigree. Our data suggest several act oncogenic drivers family, likely
nature.com
sci-hub.se 参考文章(31)
Pengyuan Liu, Haris G. Vikis, Daolong Wang, Yan Lu, Yian Wang, Ann G. Schwartz, Susan M. Pinney, Ping Yang, Mariza de Andrade, Gloria M. Petersen, Jonathan S. Wiest, Pamela R. Fain, Adi Gazdar, Colette Gaba, Henry Rothschild, Diptasri Mandal, Teresa Coons, Juwon Lee, Elena Kupert, Daniela Seminara, John Minna, Joan E. Bailey-Wilson, Xifeng Wu, Margaret R. Spitz, Timothy Eisen, Richard S. Houlston, Christopher I. Amos, Marshall W. Anderson, Ming You, Familial Aggregation of Common Sequence Variants on 15q24-25.1 in Lung Cancer Journal of the National Cancer Institute. ,vol. 100, pp. 1326- 1330 ,(2008) , 10.1093/JNCI/DJN268
Christopher I. Amos, Susan M. Pinney, Yafang Li, Elena Kupert, Juwon Lee, Mariza A. de Andrade, Ping Yang, Ann G. Schwartz, Pam R. Fain, Adi Gazdar, John Minna, Jonathan S. Wiest, Dong Zeng, Henry Rothschild, Diptasri Mandal, Ming You, Teresa Coons, Colette Gaba, Joan E. Bailey-Wilson, Marshall W. Anderson, A Susceptibility Locus on Chromosome 6q Greatly Increases Lung Cancer Risk among Light and Never Smokers Cancer Research. ,vol. 70, pp. 2359- 2367 ,(2010) , 10.1158/0008-5472.CAN-09-3096
Geraldine A. Auwera, Mauricio O. Carneiro, Christopher Hartl, Ryan Poplin, Guillermo del Angel, Ami Levy‐Moonshine, Tadeusz Jordan, Khalid Shakir, David Roazen, Joel Thibault, Eric Banks, Kiran V. Garimella, David Altshuler, Stacey Gabriel, Mark A. DePristo, From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline Current protocols in human genetics. ,vol. 43, ,(2013) , 10.1002/0471250953.BI1110S43
Yan Liu, Pengyuan Liu, Weidong Wen, Michael A. James, Yian Wang, Joan E. Bailey-Wilson, Christopher I. Amos, Susan M. Pinney, Ping Yang, Mariza de Andrade, Gloria M. Petersen, Jonathan S. Wiest, Pamela R. Fain, Ann G. Schwartz, Adi Gazdar, Colette Gaba, Henry Rothschild, Diptasri Mandal, Elena Kupert, Juwon Lee, Daniela Seminara, John Minna, Marshall W. Anderson, Ming You, Haplotype and Cell Proliferation Analyses of Candidate Lung Cancer Susceptibility Genes on Chromosome 15q24-25.1 Cancer Research. ,vol. 69, pp. 7844- 7850 ,(2009) , 10.1158/0008-5472.CAN-09-1833
Christopher I Amos, Xifeng Wu, Peter Broderick, Ivan P Gorlov, Jian Gu, Timothy Eisen, Qiong Dong, Qing Zhang, Xiangjun Gu, Jayaram Vijayakrishnan, Kate Sullivan, Athena Matakidou, Yufei Wang, Gordon Mills, Kimberly Doheny, Ya-Yu Tsai, Wei Vivien Chen, Sanjay Shete, Margaret R Spitz, Richard S Houlston, Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1 Nature Genetics. ,vol. 40, pp. 616- 622 ,(2008) , 10.1038/NG.109
K. Wang, M. Li, H. Hakonarson, ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Nucleic Acids Research. ,vol. 38, ,(2010) , 10.1093/NAR/GKQ603
Krisztián Bácsi, Erika Hitre, János P Kósa, Henrik Horváth, Áron Lazáry, Péter L Lakatos, Bernadett Balla, Barna Budai, Péter Lakatos, Gábor Speer, Effects of the lactase 13910 C/T and calcium-sensor receptor A986S G/T gene polymorphisms on the incidence and recurrence of colorectal cancer in Hungarian population. BMC Cancer. ,vol. 8, pp. 317- 317 ,(2008) , 10.1186/1471-2407-8-317
James D McKay, Rayjean J Hung, Valerie Gaborieau, Paolo Boffetta, Amelie Chabrier, Graham Byrnes, David Zaridze, Anush Mukeria, Neonilia Szeszenia-Dabrowska, Jolanta Lissowska, Peter Rudnai, Eleonora Fabianova, Dana Mates, Vladimir Bencko, Lenka Foretova, Vladimir Janout, John McLaughlin, Frances Shepherd, Alexandre Montpetit, Steven Narod, Hans E Krokan, Frank Skorpen, Maiken Bratt Elvestad, Lars Vatten, Inger Njølstad, Tomas Axelsson, Chu Chen, Gary Goodman, Matt Barnett, Melissa M Loomis, Jan Lubiñski, Joanna Matyjasik, Marcin Lener, Dorota Oszutowska, John Field, Triantafillos Liloglou, George Xinarianos, Adrian Cassidy, Diana Zelenika, Anne Boland, Marc Delepine, Mario Foglio, Doris Lechner, Fumihiko Matsuda, Helene Blanche, Ivo Gut, Simon Heath, Mark Lathrop, Paul Brennan, None, Lung cancer susceptibility locus at 5p15.33 Nature Genetics. ,vol. 40, pp. 1404- 1406 ,(2008) , 10.1038/NG.254
Yufei Wang, Peter Broderick, Emily Webb, Xifeng Wu, Jayaram Vijayakrishnan, Athena Matakidou, Mobshra Qureshi, Qiong Dong, Xiangjun Gu, Wei Vivien Chen, Margaret R Spitz, Timothy Eisen, Christopher I Amos, Richard S Houlston, Common 5p15.33 and 6p21.33 variants influence lung cancer risk. Nature Genetics. ,vol. 40, pp. 1407- 1409 ,(2008) , 10.1038/NG.273
G. J. Riely, J. Marks, W. Pao, KRAS mutations in non-small cell lung cancer. Proceedings of the American Thoracic Society. ,vol. 6, pp. 201- 205 ,(2009) , 10.1513/PATS.200809-107LC