Identification of low penetrance alleles for lung cancer: The GEnetic Lung CAncer Predisposition Study (GELCAPS)

被引：33

作者：

Eisen, Tim ^{[2
]}

Matakidou, Athena ^{[1
]}

Houlston, Richard ^{[1
]}

机构：

[1] Inst Canc Res, Sect Canc Genet, Sutton SM2 5NG, Surrey, England

[2] Univ Cambridge, Dept Med Oncol, Cambridge CB2 2RE, England

来源：

BMC CANCER | 2008年 / 8卷 / 1期

关键词：

D O I：

10.1186/1471-2407-8-244

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Background: Part of the inherited risk to lung cancer is likely to include common, low risk alleles. The identification of this class of susceptibility is contingent on association-based analyses. We established GEnetic Lung CAncer Predisposition Study (GELCAPS) to collect DNA and clinicopathological data from a large series of cases and a series of spouse/partner controls, thereby generating a key resource for the identification of low risk alleles. Methods: GELCAPS was one of the first genetic epidemiological trials in the UK to be adopted by the National Cancer Research Network (NCRN) onto its portfolio with the participation of over 100 oncology departments specialising in the management of lung cancer. Results: Samples from over 5,000 independent lung cancer cases and 2,000 controls have so far been assembled through GELCAPS. Conclusion: GELCAPS represents one of the largest datasets of its type in the world capable of informing on the contribution of low penetrance alleles to the development of lung cancer and the influence of genetic variation on outcome. In addition our experience in developing the GELCAPS serves to illustrate how large DNA biobanks for genetic analyses can be rapidly generated within the UK using the NCRN.

引用

页数：10

共 37 条

[1] Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1 [J].

Amos, Christopher I. ;

Wu, Xifeng ;

Broderick, Peter ;

Gorlov, Ivan P. ;

Gu, Jian ;

Eisen, Timothy ;

Dong, Qiong ;

Zhang, Qing ;

Gu, Xiangjun ;

Vijayakrishnan, Jayaram ;

Sullivan, Kate ;

Matakidou, Athena ;

Wang, Yufei ;

Mills, Gordon ;

Doheny, Kimberly ;

Tsai, Ya-Yu ;

Chen, Wei Vivien ;

Shete, Sanjay ;

Spitz, Margaret R. ;

Houlston, Richard S. .

NATURE GENETICS, 2008, 40 (05) :616-622

[2] A common variant associated with prostate cancer in European and African populations [J].

Amundadottir, Laufey T. ;

Sulem, Patrick ;

Gudmundsson, Julius ;

Helgason, Agnar ;

Baker, Adam ;

Agnarsson, Bjarni A. ;

Sigurdsson, Asgeir ;

Benediktsdottir, Kristrun R. ;

Cazier, Jean-Baptiste ;

Sainz, Jesus ;

Jakobsdottir, Margret ;

Kostic, Jelena ;

Magnusdottir, Droplaug N. ;

Ghosh, Shyamali ;

Agnarsson, Kari ;

Birgisdottir, Birgitta ;

Le Roux, Louise ;

Olafsdottir, Adalheidur ;

Blondal, Thorarinn ;

Andresdottir, Margret ;

Gretarsdottir, Olafia Svandis ;

Bergthorsson, Jon T. ;

Gudbjartsson, Daniel ;

Gylfason, Arnaldur ;

Thorleifsson, Gudmar ;

Manolescu, Andrei ;

Kristjansson, Kristleifur ;

Geirsson, Gudmundur ;

Isaksson, Helgi ;

Douglas, Julie ;

Johansson, Jan-Erik ;

Balter, Katarina ;

Wiklund, Fredrik ;

Montie, James E. ;

Yu, Xiaoying ;

Suarez, Brian K. ;

Ober, Carole ;

Cooney, Kathleen A. ;

Gronberg, Henrik ;

Catalona, William J. ;

Einarsson, Gudmundur V. ;

Barkardottir, Rosa B. ;

Gulcher, Jeffrey R. ;

Kong, Augustine ;

Thorsteinsdottir, Unnur ;

Stefansson, Kari .

NATURE GENETICS, 2006, 38 (06) :652-658

[3] Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease [J].

Botstein, D ;

Risch, N .

NATURE GENETICS, 2003, 33 (Suppl 3) :228-237

[4] A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk [J].

Broderick, Peter ;

Carvajal-Carmona, Luis ;

Pittman, Alan M. ;

Webb, Emily ;

Howarth, Kimberley ;

Rowan, Andrew ;

Lubbe, Steven ;

Spain, Sarah ;

Sullivan, Kate ;

Fielding, Sarah ;

Jaeger, Emma ;

Vijayakrishnan, Jayaram ;

Kemp, Zoe ;

Gorman, Maggie ;

Chandler, Ian ;

Papaemmanuil, Elli ;

Penegar, Steven ;

Wood, Wendy ;

Sellick, Gabrielle ;

Qureshi, Mobshra ;

Teixeira, Ana ;

Domingo, Enric ;

Barclay, Ella ;

Martin, Lynn ;

Sieber, Oliver ;

Kerr, David ;

Gray, Richard ;

Peto, Julian ;

Cazier, Jean-Baptiste ;

Tomlinson, Ian ;

Houlston, Richard S. .

NATURE GENETICS, 2007, 39 (11) :1315-1317

[5]

CARLSTEN C, 2008, AM J EPIDEMIOL

[6] 2ND PRIMARY NEOPLASMS IN PATIENTS WITH RETINOBLASTOMA [J].

DRAPER, GJ ;

SANDERS, BM ;

KINGSTON, JE .

BRITISH JOURNAL OF CANCER, 1986, 53 (05) :661-671

[7] Genome-wide association study identifies novel breast cancer susceptibility loci [J].

Easton, Douglas F. ;

Pooley, Karen A. ;

Dunning, Alison M. ;

Pharoah, Paul D. P. ;

Thompson, Deborah ;

Ballinger, Dennis G. ;

Struewing, Jeffery P. ;

Morrison, Jonathan ;

Field, Helen ;

Luben, Robert ;

Wareham, Nicholas ;

Ahmed, Shahana ;

Healey, Catherine S. ;

Bowman, Richard ;

Meyer, Kerstin B. ;

Haiman, Christopher A. ;

Kolonel, Laurence K. ;

Henderson, Brian E. ;

Le Marchand, Loic ;

Brennan, Paul ;

Sangrajrang, Suleeporn ;

Gaborieau, Valerie ;

Odefrey, Fabrice ;

Shen, Chen-Yang ;

Wu, Pei-Ei ;

Wang, Hui-Chun ;

Eccles, Diana ;

Evans, D. Gareth ;

Peto, Julian ;

Fletcher, Olivia ;

Johnson, Nichola ;

Seal, Sheila ;

Stratton, Michael R. ;

Rahman, Nazneen ;

Chenevix-Trench, Georgia ;

Bojesen, Stig E. ;

Nordestgaard, Borge G. ;

Axelsson, Christen K. ;

Garcia-Closas, Montserrat ;

Brinton, Louise ;

Chanock, Stephen ;

Lissowska, Jolanta ;

Peplonska, Beata ;

Nevanlinna, Heli ;

Fagerholm, Rainer ;

Eerola, Hannaleena ;

Kang, Daehee ;

Yoo, Keun-Young ;

Noh, Dong-Young ;

Ahn, Sei-Hyun .

NATURE, 2007, 447 (7148) :1087-U7

[8]

EELES RA, 2006, NAT GENET, V38, P652

[9] Lifetime risks of common cancers among retinoblastoma survivors [J].

Fletcher, O ;

Easton, D ;

Anderson, K ;

Gilham, C ;

Jay, M ;

Peto, J .

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2004, 96 (05) :357-363

[10] Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes [J].

Gudmundsson, Julius ;

Sulem, Patrick ;

Steinthorsdottir, Valgerdur ;

Bergthorsson, Jon T. ;

Thorleifsson, Gudmar ;

Manolescu, Andrei ;

Rafnar, Thorunn ;

Gudbjartsson, Daniel ;

Agnarsson, Bjarni A. ;

Baker, Adam ;

Sigurdsson, Asgeir ;

Benediktsdottir, Kristrun R. ;

Jakobsdottir, Margret ;

Blondal, Thorarinn ;

Stacey, Simon N. ;

Helgason, Agnar ;

Gunnarsdottir, Steinunn ;

Olafsdottir, Adalheidur ;

Kristinsson, Kari T. ;

Birgisdottir, Birgitta ;

Ghosh, Shyamali ;

Thorlacius, Steinunn ;

Magnusdottir, Dana ;

Stefansdottir, Gerdur ;

Kristjansson, Kristleifur ;

Bagger, Yu ;

Wilensky, Robert L. ;

Reilly, Muredach P. ;

Morris, Andrew D. ;

Kimber, Charlotte H. ;

Adeyemo, Adebowale ;

Chen, Yuanxiu ;

Zhou, Jie ;

So, Wing-Yee ;

Tong, Peter C. Y. ;

Ng, Maggie C. Y. ;

Hansen, Torben ;

Andersen, Gitte ;

Borch-Johnsen, Knut ;

Jorgensen, Torben ;

Tres, Alejandro ;

Fuertes, Fernando ;

Ruiz-Echarri, Manuel ;

Asin, Laura ;

Saez, Berta ;

van Boven, Erica ;

Klaver, Siem ;

Swinkels, Dorine W. ;

Aben, Katja K. ;

Graif, Theresa .

NATURE GENETICS, 2007, 39 (08) :977-983

← 1 2 3 4 →