Literature DB >> 22634755

Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.

Malcolm G Dunlop1, Sara E Dobbins, Susan Mary Farrington, Angela M Jones, Claire Palles, Nicola Whiffin, Albert Tenesa, Sarah Spain, Peter Broderick, Li-Yin Ooi, Enric Domingo, Claire Smillie, Marc Henrion, Matthew Frampton, Lynn Martin, Graeme Grimes, Maggie Gorman, Colin Semple, Yusanne P Ma, Ella Barclay, James Prendergast, Jean-Baptiste Cazier, Bianca Olver, Steven Penegar, Steven Lubbe, Ian Chander, Luis G Carvajal-Carmona, Stephane Ballereau, Amy Lloyd, Jayaram Vijayakrishnan, Lina Zgaga, Igor Rudan, Evropi Theodoratou, John M Starr, Ian Deary, Iva Kirac, Dujo Kovacević, Lauri A Aaltonen, Laura Renkonen-Sinisalo, Jukka-Pekka Mecklin, Koichi Matsuda, Yusuke Nakamura, Yukinori Okada, Steven Gallinger, David J Duggan, David Conti, Polly Newcomb, John Hopper, Mark A Jenkins, Fredrick Schumacher, Graham Casey, Douglas Easton, Mitul Shah, Paul Pharoah, Annika Lindblom, Tao Liu, Christopher G Smith, Hannah West, Jeremy P Cheadle, Rachel Midgley, David J Kerr, Harry Campbell, Ian P Tomlinson, Richard S Houlston.   

Abstract

We performed a meta-analysis of five genome-wide association studies to identify common variants influencing colorectal cancer (CRC) risk comprising 8,682 cases and 9,649 controls. Replication analysis was performed in case-control sets totaling 21,096 cases and 19,555 controls. We identified three new CRC risk loci at 6p21 (rs1321311, near CDKN1A; P = 1.14 × 10(-10)), 11q13.4 (rs3824999, intronic to POLD3; P = 3.65 × 10(-10)) and Xp22.2 (rs5934683, near SHROOM2; P = 7.30 × 10(-10)) This brings the number of independent loci associated with CRC risk to 20 and provides further insight into the genetic architecture of inherited susceptibility to CRC.

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Year:  2012        PMID: 22634755      PMCID: PMC4747430          DOI: 10.1038/ng.2293

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  39 in total

1.  Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.

Authors:  Albert Tenesa; Susan M Farrington; James G D Prendergast; Mary E Porteous; Marion Walker; Naila Haq; Rebecca A Barnetson; Evropi Theodoratou; Roseanne Cetnarskyj; Nicola Cartwright; Colin Semple; Andrew J Clark; Fiona J L Reid; Lorna A Smith; Kostas Kavoussanakis; Thibaud Koessler; Paul D P Pharoah; Stephan Buch; Clemens Schafmayer; Jürgen Tepel; Stefan Schreiber; Henry Völzke; Carsten O Schmidt; Jochen Hampe; Jenny Chang-Claude; Michael Hoffmeister; Hermann Brenner; Stefan Wilkening; Federico Canzian; Gabriel Capella; Victor Moreno; Ian J Deary; John M Starr; Ian P M Tomlinson; Zoe Kemp; Kimberley Howarth; Luis Carvajal-Carmona; Emily Webb; Peter Broderick; Jayaram Vijayakrishnan; Richard S Houlston; Gad Rennert; Dennis Ballinger; Laura Rozek; Stephen B Gruber; Koichi Matsuda; Tomohide Kidokoro; Yusuke Nakamura; Brent W Zanke; Celia M T Greenwood; Jagadish Rangrej; Rafal Kustra; Alexandre Montpetit; Thomas J Hudson; Steven Gallinger; Harry Campbell; Malcolm G Dunlop
Journal:  Nat Genet       Date:  2008-03-30       Impact factor: 38.330

2.  Risks of Lynch syndrome cancers for MSH6 mutation carriers.

Authors:  Laura Baglietto; Noralane M Lindor; James G Dowty; Darren M White; Anja Wagner; Encarna B Gomez Garcia; Annette H J T Vriends; Nicola R Cartwright; Rebecca A Barnetson; Susan M Farrington; Albert Tenesa; Heather Hampel; Daniel Buchanan; Sven Arnold; Joanne Young; Michael D Walsh; Jeremy Jass; Finlay Macrae; Yoland Antill; Ingrid M Winship; Graham G Giles; Jack Goldblatt; Susan Parry; Graeme Suthers; Barbara Leggett; Malinda Butz; Melyssa Aronson; Jenny N Poynter; John A Baron; Loic Le Marchand; Robert Haile; Steve Gallinger; John L Hopper; John Potter; Albert de la Chapelle; Hans F Vasen; Malcolm G Dunlop; Stephen N Thibodeau; Mark A Jenkins
Journal:  J Natl Cancer Inst       Date:  2009-12-22       Impact factor: 13.506

3.  High incidence of skewed X chromosome inactivation in young patients with familial non-BRCA1/BRCA2 breast cancer.

Authors:  M Kristiansen; G P S Knudsen; P Maguire; S Margolin; J Pedersen; A Lindblom; K H Ørstavik
Journal:  J Med Genet       Date:  2005-05-06       Impact factor: 6.318

Review 4.  A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer.

Authors:  C R Boland; S N Thibodeau; S R Hamilton; D Sidransky; J R Eshleman; R W Burt; S J Meltzer; M A Rodriguez-Bigas; R Fodde; G N Ranzani; S Srivastava
Journal:  Cancer Res       Date:  1998-11-15       Impact factor: 12.701

5.  Congenital hypertrophy of retinal pigment epithelium in patients with colonic polyps associated with cancer family syndrome.

Authors:  R S Houlston; T Fallon; C Harocopos; C B Williams; C Davey; J Slack
Journal:  Clin Genet       Date:  1992-07       Impact factor: 4.438

6.  Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.

Authors:  Richard S Houlston; Emily Webb; Peter Broderick; Alan M Pittman; Maria Chiara Di Bernardo; Steven Lubbe; Ian Chandler; Jayaram Vijayakrishnan; Kate Sullivan; Steven Penegar; Luis Carvajal-Carmona; Kimberley Howarth; Emma Jaeger; Sarah L Spain; Axel Walther; Ella Barclay; Lynn Martin; Maggie Gorman; Enric Domingo; Ana S Teixeira; David Kerr; Jean-Baptiste Cazier; Iina Niittymäki; Sari Tuupanen; Auli Karhu; Lauri A Aaltonen; Ian P M Tomlinson; Susan M Farrington; Albert Tenesa; James G D Prendergast; Rebecca A Barnetson; Roseanne Cetnarskyj; Mary E Porteous; Paul D P Pharoah; Thibaud Koessler; Jochen Hampe; Stephan Buch; Clemens Schafmayer; Jurgen Tepel; Stefan Schreiber; Henry Völzke; Jenny Chang-Claude; Michael Hoffmeister; Hermann Brenner; Brent W Zanke; Alexandre Montpetit; Thomas J Hudson; Steven Gallinger; Harry Campbell; Malcolm G Dunlop
Journal:  Nat Genet       Date:  2008-11-16       Impact factor: 38.330

7.  Shroom2 regulates contractility to control endothelial morphogenesis.

Authors:  Matthew J Farber; Ryan Rizaldy; Jeffrey D Hildebrand
Journal:  Mol Biol Cell       Date:  2011-01-19       Impact factor: 4.138

8.  Genome-wide associations of gene expression variation in humans.

Authors:  Barbara E Stranger; Matthew S Forrest; Andrew G Clark; Mark J Minichiello; Samuel Deutsch; Robert Lyle; Sarah Hunt; Brenda Kahl; Stylianos E Antonarakis; Simon Tavaré; Panagiotis Deloukas; Emmanouil T Dermitzakis
Journal:  PLoS Genet       Date:  2005-12-16       Impact factor: 5.917

9.  Extracolonic features of familial adenomatous polyposis in patients with sporadic colorectal cancer.

Authors:  M G Dunlop; S M Farrington; V J Bubb; C Cunningham; M Wright; L J Curtis; Z A Butt; E Wright; B W Fleck; D Redhead; R Mitchell; J B Rainey; I M Macintyre; D C Carter; A H Wyllie
Journal:  Br J Cancer       Date:  1996-12       Impact factor: 7.640

10.  Testing for association on the X chromosome.

Authors:  David Clayton
Journal:  Biostatistics       Date:  2008-04-25       Impact factor: 5.899

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  137 in total

1.  Fine-mapping of genome-wide association study-identified risk loci for colorectal cancer in African Americans.

Authors:  Hansong Wang; Christopher A Haiman; Terrilea Burnett; Barbara K Fortini; Laurence N Kolonel; Brian E Henderson; Lisa B Signorello; William J Blot; Temitope O Keku; Sonja I Berndt; Polly A Newcomb; Mala Pande; Christopher I Amos; Dee W West; Graham Casey; Robert S Sandler; Robert Haile; Daniel O Stram; Loïc Le Marchand
Journal:  Hum Mol Genet       Date:  2013-07-12       Impact factor: 6.150

2.  Identification of candidate susceptibility genes for colorectal cancer through eQTL analysis.

Authors:  Adria Closa; David Cordero; Rebeca Sanz-Pamplona; Xavier Solé; Marta Crous-Bou; Laia Paré-Brunet; Antoni Berenguer; Elisabet Guino; Adriana Lopez-Doriga; Jordi Guardiola; Sebastiano Biondo; Ramon Salazar; Victor Moreno
Journal:  Carcinogenesis       Date:  2014-04-23       Impact factor: 4.944

Review 3.  Genetic variations in colorectal cancer risk and clinical outcome.

Authors:  Kejin Zhang; Jesse Civan; Sushmita Mukherjee; Fenil Patel; Hushan Yang
Journal:  World J Gastroenterol       Date:  2014-04-21       Impact factor: 5.742

4.  Estimating the heritability of colorectal cancer.

Authors:  Shuo Jiao; Ulrike Peters; Sonja Berndt; Hermann Brenner; Katja Butterbach; Bette J Caan; Christopher S Carlson; Andrew T Chan; Jenny Chang-Claude; Stephen Chanock; Keith R Curtis; David Duggan; Jian Gong; Tabitha A Harrison; Richard B Hayes; Brian E Henderson; Michael Hoffmeister; Laurence N Kolonel; Loic Le Marchand; John D Potter; Anja Rudolph; Robert E Schoen; Daniela Seminara; Martha L Slattery; Emily White; Li Hsu
Journal:  Hum Mol Genet       Date:  2014-02-21       Impact factor: 6.150

Review 5.  New genes emerging for colorectal cancer predisposition.

Authors:  Clara Esteban-Jurado; Pilar Garre; Maria Vila; Juan José Lozano; Anna Pristoupilova; Sergi Beltrán; Anna Abulí; Jenifer Muñoz; Francesc Balaguer; Teresa Ocaña; Antoni Castells; Josep M Piqué; Angel Carracedo; Clara Ruiz-Ponte; Xavier Bessa; Montserrat Andreu; Luis Bujanda; Trinidad Caldés; Sergi Castellví-Bel
Journal:  World J Gastroenterol       Date:  2014-02-28       Impact factor: 5.742

6.  Identification of a shared protective genetic susceptibility locus for colorectal cancer and gastric cancer.

Authors:  Na He; Lijun Liu; Xianglong Duan; Li Wang; Dongya Yuan; Tianbo Jin; Longli Kang
Journal:  Tumour Biol       Date:  2015-09-17

7.  A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer.

Authors:  C Fernandez-Rozadilla; J B Cazier; I Tomlinson; A Brea-Fernández; M J Lamas; M Baiget; L A López-Fernández; J Clofent; L Bujanda; D Gonzalez; L de Castro; K Hemminki; X Bessa; M Andreu; R Jover; R Xicola; X Llor; V Moreno; A Castells; S Castellví-Bel; A Carracedo; C Ruiz-Ponte
Journal:  Hum Genet       Date:  2013-11-12       Impact factor: 4.132

8.  Intestinal cell proliferation and senescence are regulated by receptor guanylyl cyclase C and p21.

Authors:  Nirmalya Basu; Sayanti Saha; Imran Khan; Subbaraya G Ramachandra; Sandhya S Visweswariah
Journal:  J Biol Chem       Date:  2013-11-11       Impact factor: 5.157

9.  Evaluation of genetic variants in association with colorectal cancer risk and survival in Asians.

Authors:  Nan Wang; Yingchang Lu; Nikhil K Khankari; Jirong Long; Hong-Lan Li; Jing Gao; Yu-Tang Gao; Yong-Bing Xiang; Xiao-Ou Shu; Wei Zheng
Journal:  Int J Cancer       Date:  2017-06-21       Impact factor: 7.396

10.  Genome-wide association study of colorectal cancer identifies six new susceptibility loci.

Authors:  Fredrick R Schumacher; Stephanie L Schmit; Shuo Jiao; Christopher K Edlund; Hansong Wang; Ben Zhang; Li Hsu; Shu-Chen Huang; Christopher P Fischer; John F Harju; Gregory E Idos; Flavio Lejbkowicz; Frank J Manion; Kevin McDonnell; Caroline E McNeil; Marilena Melas; Hedy S Rennert; Wei Shi; Duncan C Thomas; David J Van Den Berg; Carolyn M Hutter; Aaron K Aragaki; Katja Butterbach; Bette J Caan; Christopher S Carlson; Stephen J Chanock; Keith R Curtis; Charles S Fuchs; Manish Gala; Edward L Giovannucci; Stephanie M Gogarten; Richard B Hayes; Brian Henderson; David J Hunter; Rebecca D Jackson; Laurence N Kolonel; Charles Kooperberg; Sébastien Küry; Andrea LaCroix; Cathy C Laurie; Cecelia A Laurie; Mathieu Lemire; David Levine; Jing Ma; Karen W Makar; Conghui Qu; Darin Taverna; Cornelia M Ulrich; Kana Wu; Suminori Kono; Dee W West; Sonja I Berndt; Stéphane Bezieau; Hermann Brenner; Peter T Campbell; Andrew T Chan; Jenny Chang-Claude; Gerhard A Coetzee; David V Conti; David Duggan; Jane C Figueiredo; Barbara K Fortini; Steven J Gallinger; W James Gauderman; Graham Giles; Roger Green; Robert Haile; Tabitha A Harrison; Michael Hoffmeister; John L Hopper; Thomas J Hudson; Eric Jacobs; Motoki Iwasaki; Sun Ha Jee; Mark Jenkins; Wei-Hua Jia; Amit Joshi; Li Li; Noralene M Lindor; Keitaro Matsuo; Victor Moreno; Bhramar Mukherjee; Polly A Newcomb; John D Potter; Leon Raskin; Gad Rennert; Stephanie Rosse; Gianluca Severi; Robert E Schoen; Daniela Seminara; Xiao-Ou Shu; Martha L Slattery; Shoichiro Tsugane; Emily White; Yong-Bing Xiang; Brent W Zanke; Wei Zheng; Loic Le Marchand; Graham Casey; Stephen B Gruber; Ulrike Peters
Journal:  Nat Commun       Date:  2015-07-07       Impact factor: 14.919

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