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Principal Investigator
Ulrike Peters
Fred Hutchinson Cancer Research Center
Position Title
About this CDAS Project
PLCO (Learn more about this study)
Project ID
Initial CDAS Request Approval
Jan 28, 2010
Screen for Rare Alleles by Deep Resequencing of Colorectal Cancer Cases
PLEASE NOTE FOR THE PURPOSE OF READABILITY AND EASY ACCESS TO TABLES AND FIGURES THE ENTIRE APPLICATION IS ALSO ATTACHED AS AN ATTACHMENT: Linkage analyses of pedigrees have identified idiosyncratic, high penetrance mutations predisposing to colorectal cancer (CRC), and more recently genome-wide association studies (GWAS) have identified common risk alleles that confer modest risk of developing disease. However, a significant fraction of the excess familial risk of CRC remains to be explained. The approaches used to date would not have been likely to detect low frequency alleles (allele frequency between one half percent and five percent) associated with moderate disease risk (relative risk of disease in carriers between 2 and 4). To investigate these genetic variants we propose to use next generation sequencing technology to screen the protein coding regions of the whole genome ("the exome') for low frequency polymorphisms in a panel of 75 CRC cases, identified from the Women's Health Initiative (WHI) and Prostate, Lung, Colon and Ovarian Cancer Screening Trial (PLCO). The identified low frequency polymorphisms will then be screened for predicted molecular functions, such as nonsense, frameshift, missense and splicing polymorphisms and the most promising candidate functional polymorphisms will be tested for association with disease status by genotyping 394 strong candidates in a total of 3,493 matched case-control pairs from the WHI and PLCO studies.These variants may provide meaningful disease risk prediction in the clinic, and are certain to provide insights into the molecular pathways through which CRC develops. Insights into these molecular pathways may allow for the development of novel therapeutic (and prophylactic) approaches to CRC.

Colorectal cancer (CRC) is the second leading cause of cancer death in the . It is estimated that up to 35% of CRC is attributable to inherited factors, and identification of associated genetic variants is important to elucidate mechanisms underlying this disease. First results from genome-wide association studies (GWAS) have demonstrated considerable success in identifying genetic variants associated with various common complex diseases, including CRC. Rare syndromes (FAP, Lynch's syndrome, etc.) explain between three and five percent of excess familial disease risk for CRC, while GWAS regions identified to date explain just six percent. It is estimated that even large GWAS using 50,000 to 100,000 individuals will capture at most 10% to 15% of the heritable disease risk of complex diseases, leaving a significant fraction unexplained. This variation has been referred to as "genetic dark matter", and its elucidation is a key next step in understanding genetic susceptibility to CRC.US. There are several possibilities that might account for the unexplained heritability of CRC, including gene-gene interactions, gene-environment interactions and copy number variation. Another promising explanation is variants that would not have been captured by either linkage analysis or GWAS; specifically, modest risk variants with allele frequencies in the 0.5 - 5% range. Recent studies examining variation in the coding regions of the genome have identified a number of functional variants in this frequency range contributing to complex disease risk. In contrast to subtle tagSNP associations in GWAS, rare disease-associated variants often have stronger associations, and are more likely to be functionally related to disease. Initial studies of rare variants have focused on the resequencing of candidate genes and regions. Next generation sequencing methods and other technological advances have now made it feasible and cost-efficient to resequence much of the coding genome (the "exome") and, thereby, to comprehensively screen for coding variants that can be tested for disease risk. Such an analysis was recently successful in identifying rare variants in PALB2 that are associated with pancreatic cancer. Ultimately, a full understanding of the role of rare alleles in complex disease will require an examination of both coding and non-coding variants, since both are likely to contribute to disease susceptibility. However, an exomic focus is currently advantageous for three reasons: (1) mutations in coding regions that significantly alter the structure of key proteins (e.g. nonsense and frameshift mutations), are likely to have relevant functional effects; (2) in silico tools to predict function are more mature for missense variants and splice variants in coding regions than for regulatory variants in noncoding sequence; and (3) sequencing the exome is presently much cheaper than sequencing the entire genome. Exomic resequencing of a modest panel of high-risk individuals can be paired with in silico analysis to define a panel of coding variants with strong functional predictions. These variants can rapidly and efficiently be screened for associations with disease in much larger case-control populations. This strategy affords an exceptional opportunity to identify rare functional polymorphisms associated with CRC that have clinically relevant odds ratios (?2-fold allelic OR). We propose a strategy with the following specific aims: Aim 1: To identify rare variants (MAF 0.5-5%) in the exome of colorectal cancer cases. We propose to use a combination of hybridization enrichment of the exome with next-generation sequencing to sequence the exome to 25X depth in each of 75 high risk CRC cases. Aim 2: To characterize these variants in terms of predicted function and to test the most promising variants for association with CRC. We propose to identify rare variants with strong predictions of functional consequence (nonsense, frameshift, and non-conservative mis-sense variants, as well as variants in candidate genes and pathways), and genotype a panel of 384 candidate functional variants in 3,493 CRC cases and 3,493 matched controls from the WHI and PLCO, to test for associations with CRC risk. As a secondary aim, we propose to assess the feasibility of resequencing pools of genomes from the same individuals, as a more cost-effective approach to rare variant discovery. This project brings together a highly-qualified multi-disciplinary team of investigators, using cutting edge next-generation sequencing technology to generate important sequence and association data. Our work will result in methodologic and technological advances, which will accelerate current and future research into the genetic basis of CRC and other complex diseases. This work should lead to the identification of key causal variants, genes, and pathways for CRC, and, ultimately, to improved public health prevention and treatment strategies.


Richard Hayes (NYU)
David Craig (Translational Genomic Science)
Ulrike Peters (Fred Hutchinson Cancer Research Center)
John Potter (Fred Hutchinson Cancer Research Center)
Li Hsu (Fred Hutchinson Cancer Research Center)
David Duggan (Translational Genomic Science)
Wen-Yi Huang (NCI)

Approved Addenda This project has one or more approved addenda.
  • Extend targeted sequencing to adenomas (already in the file under EEMS 2007-0022) and change sequencing lab to CIDR
Related Publications
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    Bouras E, Kim AE, Lin Y, Morrison J, Du M, Albanes D, Barry EL, Baurley JW, Berndt SI, Bien SA, Bishop TD, Brenner H, Budiarto A, Burnett-Hartman A, Campbell PT, Carreras-Torres R, Casey G, Cenggoro TW, Chan AT, Chang-Claude J, more Conti DV, Cotterchio M, Devall M, Diez-Obrero V, Dimou N, Drew DA, Figueiredo JC, Giles GG, Gruber SB, Gunter MJ, Harrison TA, Hidaka A, Hoffmeister M, Huyghe JR, Joshi AD, Kawaguchi ES, Keku TO, Kundaje A, Le Marchand L, Lewinger JP, Li L, Lynch BM, Mahesworo B, Männistö S, Moreno V, Murphy N, Newcomb PA, Obón-Santacana M, Ose J, Palmer JR, Papadimitriou N, Pardamean B, Pellatt AJ, Peoples AR, Platz EA, Potter JD, Qi L, Qu C, Rennert G, Ruiz-Narvaez E, Sakoda LC, Schmit SL, Shcherbina A, Stern MC, Su YR, Tangen CM, Thomas DC, Tian Y, Um CY, van Duijnhoven FJ, Van Guelpen B, Visvanathan K, Wang J, White E, Wolk A, Woods MO, Ulrich CM, Hsu L, Gauderman WJ, Peters U, Tsilidis KK
    Am J Clin Nutr. 2023 Nov; Volume 118 (Issue 5): Pages 881-891 PUBMED
  • Genetically proxied glucose-lowering drug target perturbation and risk of cancer: a Mendelian randomisation analysis.
    Yarmolinsky J, Bouras E, Constantinescu A, Burrows K, Bull CJ, Vincent EE, Martin RM, Dimopoulou O, Lewis SJ, Moreno V, Vujkovic M, Chang KM, Voight BF, Tsao PS, Gunter MJ, Hampe J, Pellatt AJ, Pharoah PDP, Schoen RE, Gallinger S, more Jenkins MA, Pai RK, PRACTICAL consortium, VA Million Veteran Program, Gill D, Tsilidis KK
    Diabetologia. 2023 Aug; Volume 66 (Issue 8): Pages 1481-1500 PUBMED
  • Probing the diabetes and colorectal cancer relationship using gene - environment interaction analyses.
    Dimou N, Kim AE, Flanagan O, Murphy N, Diez-Obrero V, Shcherbina A, Aglago EK, Bouras E, Campbell PT, Casey G, Gallinger S, Gruber SB, Jenkins MA, Lin Y, Moreno V, Ruiz-Narvaez E, Stern MC, Tian Y, Tsilidis KK, Arndt V, more Barry EL, Baurley JW, Berndt SI, Bézieau S, Bien SA, Bishop DT, Brenner H, Budiarto A, Carreras-Torres R, Cenggoro TW, Chan AT, Chang-Claude J, Chanock SJ, Chen X, Conti DV, Dampier CH, Devall M, Drew DA, Figueiredo JC, Giles GG, Gsur A, Harrison TA, Hidaka A, Hoffmeister M, Huyghe JR, Jordahl K, Kawaguchi E, Keku TO, Larsson SC, Le Marchand L, Lewinger JP, Li L, Mahesworo B, Morrison J, Newcomb PA, Newton CC, Obon-Santacana M, Ose J, Pai RK, Palmer JR, Papadimitriou N, Pardamean B, Peoples AR, Pharoah PDP, Platz EA, Potter JD, Rennert G, Scacheri PC, Schoen RE, Su YR, Tangen CM, Thibodeau SN, Thomas DC, Ulrich CM, Um CY, van Duijnhoven FJB, Visvanathan K, Vodicka P, Vodickova L, White E, Wolk A, Woods MO, Qu C, Kundaje A, Hsu L, Gauderman WJ, Gunter MJ, Peters U
    Br J Cancer. 2023 Aug; Volume 129 (Issue 3): Pages 511-520 PUBMED
  • A Genetic Locus within the FMN1/GREM1 Gene Region Interacts with Body Mass Index in Colorectal Cancer Risk.
    Aglago EK, Kim A, Lin Y, Qu C, Evangelou M, Ren Y, Morrison J, Albanes D, Arndt V, Barry EL, Baurley JW, Berndt SI, Bien SA, Bishop DT, Bouras E, Brenner H, Buchanan DD, Budiarto A, Carreras-Torres R, Casey G, more Cenggoro TW, Chan AT, Chang-Claude J, Chen X, Conti DV, Devall M, Diez-Obrero V, Dimou N, Drew D, Figueiredo JC, Gallinger S, Giles GG, Gruber SB, Gsur A, Gunter MJ, Hampel H, Harlid S, Hidaka A, Harrison TA, Hoffmeister M, Huyghe JR, Jenkins MA, Jordahl K, Joshi AD, Kawaguchi ES, Keku TO, Kundaje A, Larsson SC, Marchand LL, Lewinger JP, Li L, Lynch BM, Mahesworo B, Mandic M, Obón-Santacana M, Moreno V, Murphy N, Nan H, Nassir R, Newcomb PA, Ogino S, Ose J, Pai RK, Palmer JR, Papadimitriou N, Pardamean B, Peoples AR, Platz EA, Potter JD, Prentice RL, Rennert G, Ruiz-Narvaez E, Sakoda LC, Scacheri PC, Schmit SL, Schoen RE, Shcherbina A, Slattery ML, Stern MC, Su YR, Tangen CM, Thibodeau SN, Thomas DC, Tian Y, Ulrich CM, van Duijnhoven FJ, Van Guelpen B, Visvanathan K, Vodicka P, Wang J, White E, Wolk A, Woods MO, Wu AH, Zemlianskaia N, Hsu L, Gauderman WJ, Peters U, Tsilidis KK, Campbell PT
    Cancer Res. 2023 Aug 1; Volume 83 (Issue 15): Pages 2572-2583 PUBMED
  • Genome-wide analyses characterize shared heritability among cancers and identify novel cancer susceptibility regions.
    Lindström S, Wang L, Feng H, Majumdar A, Huo S, Macdonald J, Harrison T, Turman C, Chen H, Mancuso N, Bammler T, Breast Cancer Association Consortium (BCAC), Gallinger S, Gruber SB, Gunter MJ, Le Marchand L, Moreno V, Offit K, Colorectal Transdisciplinary Study (CORECT), Colon Cancer Family Registry Study (CCFR), Genetics And Epidemiology Of Colorectal Cancer Consortium (GECCO), De Vivo I, more O'Mara TA, Spurdle AB, Tomlinson I, Endometrial Cancer Association Consortium (ECAC), Fitzgerald R, Gharahkhani P, Gockel I, Jankowski J, Macgregor S, Schumacher J, Barnholtz-Sloan J, Bondy ML, Houlston RS, Jenkins RB, Melin B, Wrensch M, Brennan P, Christiani DC, Johansson M, Mckay J, Aldrich MC, Amos CI, Landi MT, Tardon A, International Lung Cancer Consortium (ILCCO), Bishop DT, Demenais F, Goldstein AM, Iles MM, Kanetsky PA, Law MH, Ovarian Cancer Association Consortium (OCAC), Amundadottir LT, Stolzenberg-Solomon R, Wolpin BM, Pancreatic Cancer Cohort Consortium (Panscan), Klein A, Petersen G, Risch H, Pancreatic Cancer Case-Control Consortium (Panc4), The PRACTICAL Consortium, Chanock SJ, Purdue MP, Scelo G, Pharoah P, Kar S, Hung RJ, Pasaniuc B, Kraft P
    J Natl Cancer Inst. 2023 Jun 8; Volume 115 (Issue 6): Pages 712-732 PUBMED
  • Genetic Predictors for Fecal Propionate and Butyrate-Producing Microbiome Pathway Are Not Associated with Colorectal Cancer Risk: A Mendelian Randomization Analysis.
    Lu Y , Zhao YC , Chang-Claude J , Gruber SB , Gsur A , Offit K , Vodickova L , Woods MO , Nguyen LH , Wade KH , Carreras-Torres R , Moreno V , Buchanan DD , Cotterchio M , Chan AT , Phipps AI , Peters U , Song M
    Cancer Epidemiol Biomarkers Prev. 2023 Feb 6; Volume 32 (Issue 2): Pages 281-286 PUBMED
  • Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries.
    Fernandez-Rozadilla C , Timofeeva M , Chen Z , Law P , Thomas M , Schmit S , Díez-Obrero V , Hsu L , Fernandez-Tajes J , Palles C , Sherwood K , Briggs S , Svinti V , Donnelly K , Farrington S , Blackmur J , Vaughan-Shaw P , Shu XO , Long J , Cai Q , more Guo X , Lu Y , Broderick P , Studd J , Huyghe J , Harrison T , Conti D , Dampier C , Devall M , Schumacher F , Melas M , Rennert G , Obón-Santacana M , Martín-Sánchez V , Moratalla-Navarro F , Oh JH , Kim J , Jee SH , Jung KJ , Kweon SS , Shin MH , Shin A , Ahn YO , Kim DH , Oze I , Wen W , Matsuo K , Matsuda K , Tanikawa C , Ren Z , Gao YT , Jia WH , Hopper J , Jenkins M , Win AK , Pai R , Figueiredo J , Haile R , Gallinger S , Woods M , Newcomb P , Duggan D , Cheadle J , Kaplan R , Maughan T , Kerr R , Kerr D , Kirac I , Böhm J , Mecklin LP , Jousilahti P , Knekt P , Aaltonen L , Rissanen H , Pukkala E , Eriksson J , Cajuso T , Hänninen U , Kondelin J , Palin K , Tanskanen T , Renkonen-Sinisalo L , Zanke B , Männistö S , Albanes D , Weinstein S , Ruiz-Narvaez E , Palmer J , Buchanan D , Platz E , Visvanathan K , Ulrich C , Siegel E , Brezina S , Gsur A , Campbell P , Chang-Claude J , Hoffmeister M , Brenner H , Slattery M , Potter J , Tsilidis K , Schulze M , Gunter M , Murphy N , Castells A , Castellví-Bel S , Moreira L , Arndt V , Shcherbina A , Stern M , Pardamean B , Bishop T , Giles G , Southey M , Idos G , McDonnell K , Abu-Ful Z , Greenson J , Shulman K , Lejbkowicz F , Offit K , Su YR , Steinfelder R , Keku T , van Guelpen B , Hudson T , Hampel H , Pearlman R , Berndt S , Hayes R , Martinez ME , Thomas S , Corley D , Pharoah P , Larsson S , Yen Y , Lenz HJ , White E , Li L , Doheny K , Pugh E , Shelford T , Chan A , Cruz-Correa M , Lindblom A , Hunter D , Joshi A , Schafmayer C , Scacheri P , Kundaje A , Nickerson D , Schoen R , Hampe J , Stadler Z , Vodicka P , Vodickova L , Vymetalkova V , Papadopoulos N , Edlund C , Gauderman W , Thomas D , Shibata D , Toland A , Markowitz S , Kim A , Chanock S , van Duijnhoven F , Feskens E , Sakoda L , Gago-Dominguez M , Wolk A , Naccarati A , Pardini B , FitzGerald L , Lee SC , Ogino S , Bien S , Kooperberg C , Li C , Lin Y , Prentice R , Qu C , Bézieau S , Tangen C , Mardis E , Yamaji T , Sawada N , Iwasaki M , Haiman C , Le Marchand L , Wu A , Qu C , McNeil C , Coetzee G , Hayward C , Deary I , Harris S , Theodoratou E , Reid S , Walker M , Ooi LY , Moreno V , Casey G , Gruber S , Tomlinson I , Zheng W , Dunlop M , Houlston R , Peters U
    Nat Genet. 2023 Jan; Volume 55 (Issue 1): Pages 89-99 PUBMED
  • Separating the effects of early and later life adiposity on colorectal cancer risk: a Mendelian randomization study.
    Papadimitriou N , Bull CJ , Jenab M , Hughes DJ , Bell JA , Sanderson E , Timpson NJ , Smith GD , Albanes D , Campbell PT , Küry S , Le Marchand L , Ulrich CM , Visvanathan K , Figueiredo JC , Newcomb PA , Pai RK , Peters U , Tsilidis KK , Boer JMA , more Vincent EE , Mariosa D , Gunter MJ , Richardson TG , Murphy N
    BMC Med. 2023 Jan 4; Volume 21 (Issue 1): Pages 5 PUBMED
  • Genome-wide interaction study with smoking for colorectal cancer risk identifies novel genetic loci related to tumor suppression, inflammation and immune response.
    Carreras-Torres R , Kim AE , Lin Y , Díez-Obrero V , Bien SA , Qu C , Wang J , Dimou N , Aglago EK , Albanes D , Arndt V , Baurley JW , Berndt SI , Bézieau S , Bishop DT , Bouras E , Brenner H , Budiarto A , Campbell PT , Casey G , more Chan AT , Chang-Claude J , Chen X , Conti DV , Dampier CH , Devall MA , Drew DA , Figueiredo JC , Gallinger S , Giles GG , Gruber SB , Gsur A , Gunter MJ , Harrison TA , Hidaka A , Hoffmeister M , Huyghe JR , Jenkins MA , Jordahl KM , Kawaguchi E , Keku TO , Kundaje A , Le Marchand L , Lewinger JP , Li L , Mahesworo B , Morrison JL , Murphy N , Nan H , Nassir R , Newcomb PA , Obón-Santacana M , Ogino S , Ose J , Pai RK , Palmer JR , Papadimitriou N , Pardamean B , Peoples AR , Pharoah PDP , Platz EA , Rennert G , Ruiz-Narvaez E , Sakoda LC , Scacheri PC , Schmit SL , Schoen RE , Shcherbina A , Slattery ML , Stern MC , Su YR , Tangen CM , Thomas DC , Tian Y , Tsilidis KK , Ulrich CM , van Duijnhoven FJB , Van Guelpen B , Visvanathan K , Vodicka P , Cenggoro TW , Weinstein SJ , White E , Wolk A , Woods MO , Hsu L , Peters U , Moreno V , Gauderman WJ
    Cancer Epidemiol Biomarkers Prev. 2022 Dec 28 PUBMED
  • Association between germline variants and somatic mutations in colorectal cancer.
    Barfield R , Qu C , Steinfelder RS , Zeng C , Harrison TA , Brezina S , Buchanan DD , Campbell PT , Casey G , Gallinger S , Giannakis M , Gruber SB , Gsur A , Hsu L , Huyghe JR , Moreno V , Newcomb PA , Ogino S , Phipps AI , Slattery ML , more Thibodeau SN , Trinh QM , Toland AE , Hudson TJ , Sun W , Zaidi SH , Peters U
    Sci Rep. 2022 Jun 17; Volume 12 (Issue 1): Pages 10207 PUBMED
  • Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures.
    Georgeson P, Harrison TA, Pope BJ, Zaidi SH, Qu C, Steinfelder RS, Lin Y, Joo JE, Mahmood K, Clendenning M, Walker R, Amitay EL, Berndt SI, Brenner H, Campbell PT, Cao Y, Chan AT, Chang-Claude J, Doheny KF, Drew DA, more Figueiredo JC, French AJ, Gallinger S, Giannakis M, Giles GG, Gsur A, Gunter MJ, Hoffmeister M, Hsu L, Huang WY, Limburg P, Manson JE, Moreno V, Nassir R, Nowak JA, Obón-Santacana M, Ogino S, Phipps AI, Potter JD, Schoen RE, Sun W, Toland AE, Trinh QM, Ugai T, Macrae FA, Rosty C, Hudson TJ, Jenkins MA, Thibodeau SN, Winship IM, Peters U, Buchanan DD
    Nat Commun. 2022 Jun 6; Volume 13 (Issue 1): Pages 3254 PUBMED
  • Genetic architectures of proximal and distal colorectal cancer are partly distinct.
    Huyghe JR, Harrison TA, Bien SA, Hampel H, Figueiredo JC, Schmit SL, Conti DV, Chen S, Qu C, Lin Y, Barfield R, Baron JA, Cross AJ, Diergaarde B, Duggan D, Harlid S, Imaz L, Kang HM, Levine DM, Perduca V, more Perez-Cornago A, Sakoda LC, Schumacher FR, Slattery ML, Toland AE, van Duijnhoven FJB, Van Guelpen B, Agudo A, Albanes D, Alonso MH, Anderson K, Arnau-Collell C, Arndt V, Banbury BL, Bassik MC, Berndt SI, Bézieau S, Bishop DT, Boehm J, Boeing H, Boutron-Ruault MC, Brenner H, Brezina S, Buch S, Buchanan DD, Burnett-Hartman A, Caan BJ, Campbell PT, Carr PR, Castells A, Castellví-Bel S, Chan AT, Chang-Claude J, Chanock SJ, Curtis KR, de la Chapelle A, Easton DF, English DR, Feskens EJM, Gala M, Gallinger SJ, Gauderman WJ, Giles GG, Goodman PJ, Grady WM, Grove JS, Gsur A, Gunter MJ, Haile RW, Hampe J, Hoffmeister M, Hopper JL, Hsu WL, Huang WY, Hudson TJ, Jenab M, Jenkins MA, Joshi AD, Keku TO, Kooperberg C, Kühn T, Küry S, Le Marchand L, Lejbkowicz F, Li CI, Li L, Lieb W, Lindblom A, Lindor NM, Männistö S, Markowitz SD, Milne RL, Moreno L, Murphy N, Nassir R, Offit K, Ogino S, Panico S, Parfrey PS, Pearlman R, Pharoah PDP, Phipps AI, Platz EA, Potter JD, Prentice RL, Qi L, Raskin L, Rennert G, Rennert HS, Riboli E, Schafmayer C, Schoen RE, Seminara D, Song M, Su YR, Tangen CM, Thibodeau SN, Thomas DC, Trichopoulou A, Ulrich CM, Visvanathan K, Vodicka P, Vodickova L, Vymetalkova V, Weigl K, Weinstein SJ, White E, Wolk A, Woods MO, Wu AH, Abecasis GR, Nickerson DA, Scacheri PC, Kundaje A, Casey G, Gruber SB, Hsu L, Moreno V, Hayes RB, Newcomb PA, Peters U
    Gut. 2021 Jul; Volume 70 (Issue 7): Pages 1325-1334 PUBMED
  • Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals.
    Chen H, Majumdar A, Wang L, Kar S, Brown KM, Feng H, Turman C, Dennis J, Easton D, Michailidou K, Simard J, Breast Cancer Association Consortium (BCAC), Bishop T, Cheng IC, Huyghe JR, Schmit SL, Colorectal Transdisciplinary Study (CORECT), Colon Cancer Family Registry Study (CCFR), Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO), O'Mara TA, more Spurdle AB, Endometrial Cancer Association Consortium (ECAC), Gharahkhani P, Schumacher J, Jankowski J, Gockel I, Esophageal Cancer GWAS Consortium, Bondy ML, Houlston RS, Jenkins RB, Melin B, Glioma International Case Control Consortium (GICC), Lesseur C, Ness AR, Diergaarde B, Olshan AF, Head-Neck Cancer GWAS Consortium, Amos CI, Christiani DC, Landi MT, McKay JD, International Lung Cancer Consortium (ILCCO), Brossard M, Iles MM, Law MH, MacGregor S, Melanoma GWAS Consortium, Beesley J, Jones MR, Tyrer J, Winham SJ, Ovarian Cancer Association Consortium (OCAC), Klein AP, Petersen G, Li D, Wolpin BM, Pancreatic Cancer Case-Control Consortium (PANC4), Pancreatic Cancer Cohort Consortium (PanScan), Eeles RA, Haiman CA, Kote-Jarai Z, Schumacher FR, PRACTICAL consortium, CRUK, BPC3, CAPS, PEGASUS, Brennan P, Chanock SJ, Gaborieau V, Purdue MP, Renal Cancer GWAS Consortium, Pharoah P, Hung RJ, Amundadottir LT, Kraft P, Pasaniuc B, Lindström S
    HGG Adv. 2021 Jul 8; Volume 2 (Issue 3): Pages 100041 PUBMED
  • Hemochromatosis risk genotype is not associated with colorectal cancer or age at its diagnosis.
    Jarvik GP, Wang X, Fontanillas P, Kim E, Chanprasert S, Gordon AS, Bastarache L, Kowdley KV, Harrison T, Rosenthal EA, Stanaway IB, Bézieau S, Weinstein SJ, Newcomb PA, Casey G, Platz EA, Visvanathan K, Le Marchand L, Ulrich CM, Hardikar S, more Li CI, van Duijnhoven FJB, Gsur A, Campbell PT, Moreno V, Vodička P, Brenner H, Chang-Claude J, Hoffmeister M, Slattery ML, Gunter MJ, Aglago EK, Castellví-Bel S, Kweon SS, Chan AT, Li L, Zheng W, Bishop DT, Giles GG, Rennert G, Offit K, Keku TO, Woods MO, Hampe J, Van Guelpen B, Gallinger SJ, de la Chapelle A, Hampel H, Berndt SI, Tangen CM, Lindblom A, Wolk A, Burnett-Hartman A, Wu AH, White E, 23andMe Research Team, Gruber SB, Jenkins MA, Mountain J, Peters U, Crosslin DR
    HGG Adv. 2020 Oct 22; Volume 1 (Issue 1): Pages 100010 PUBMED
  • Intake of Dietary Fruit, Vegetables, and Fiber and Risk of Colorectal Cancer According to Molecular Subtypes: A Pooled Analysis of 9 Studies.
    Hidaka A, Harrison TA, Cao Y, Sakoda LC, Barfield R, Giannakis M, Song M, Phipps AI, Figueiredo JC, Zaidi SH, Toland AE, Amitay EL, Berndt SI, Borozan I, Chan AT, Gallinger S, Gunter MJ, Guinter MA, Harlid S, Hampel H, more Jenkins MA, Lin Y, Moreno V, Newcomb PA, Nishihara R, Ogino S, Obón-Santacana M, Parfrey PS, Potter JD, Slattery ML, Steinfelder RS, Um CY, Wang X, Woods MO, Van Guelpen B, Thibodeau SN, Hoffmeister M, Sun W, Hsu L, Buchanan DD, Campbell PT, Peters U
    Cancer Res. 2020 Oct 15; Volume 80 (Issue 20): Pages 4578-4590 PUBMED
  • Postmenopausal Hormone Therapy and Colorectal Cancer Risk by Molecularly Defined Subtypes and Tumor Location.
    Labadie JD, Harrison TA, Banbury B, Amtay EL, Bernd S, Brenner H, Buchanan DD, Campbell PT, Cao Y, Chan AT, Chang-Claude J, English D, Figueiredo JC, Gallinger SJ, Giles GG, Gunter MJ, Hoffmeister M, Hsu L, Jenkins MA, Lin Y, more Milne RL, Moreno V, Murphy N, Ogino S, Phipps AI, Sakoda LC, Slattery ML, Southey MC, Sun W, Thibodeau SN, Van Guelpen B, Zaidi SH, Peters U, Newcomb PA
    JNCI Cancer Spectr. 2020 Aug; Volume 4 (Issue 5): Pages pkaa042 PUBMED
  • Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.
    Zaidi SH, Harrison TA, Phipps AI, Steinfelder R, Trinh QM, Qu C, Banbury BL, Georgeson P, Grasso CS, Giannakis M, Adams JB, Alwers E, Amitay EL, Barfield RT, Berndt SI, Borozan I, Brenner H, Brezina S, Buchanan DD, Cao Y, more Chan AT, Chang-Claude J, Connolly CM, Drew DA, Farris AB, Figueiredo JC, French AJ, Fuchs CS, Garraway LA, Gruber S, Guinter MA, Hamilton SR, Harlid S, Heisler LE, Hidaka A, Hopper JL, Huang WY, Huyghe JR, Jenkins MA, Krzyzanowski PM, Lemire M, Lin Y, Luo X, Mardis ER, McPherson JD, Miller JK, Moreno V, Mu XJ, Nishihara R, Papadopoulos N, Pasternack D, Quist MJ, Rafikova A, Reid EEG, Shinbrot E, Shirts BH, Stein LD, Teney CD, Timms L, Um CY, Van Guelpen B, Van Tassel M, Wang X, Wheeler DA, Yung CK, Hsu L, Ogino S, Gsur A, Newcomb PA, Gallinger S, Hoffmeister M, Campbell PT, Thibodeau SN, Sun W, Hudson TJ, Peters U
    Nat Commun. 2020 Jul 20; Volume 11 (Issue 1): Pages 3644 PUBMED
  • Association Between Molecular Subtypes of Colorectal Tumors and Patient Survival, Based on Pooled Analysis of 7 International Studies.
    Phipps AI, Alwers E, Harrison T, Banbury B, Brenner H, Campbell PT, Chang-Claude J, Buchanan D, Chan AT, Farris AB, Figueiredo JC, Gallinger S, Giles GG, Jenkins M, Milne RL, Newcomb PA, Slattery ML, Song M, Ogino S, Zaidi SH, more Hoffmeister M, Peters U
    Gastroenterology. 2020 Jun; Volume 158 (Issue 8): Pages 2158-2168.e4 PUBMED
  • Discovery of common and rare genetic risk variants for colorectal cancer.
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