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Grant Details

Grant Number: 1UM1CA167551-01A1 Interpret this number
Primary Investigator: Haile, Robert
Organization: Stanford University
Project Title: Colon Cancer Family Registry Cohort
Fiscal Year: 2013
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Abstract

DESCRIPTION (provided by applicant): The international, multi-site Colon Cancer Family Registry Cohort (CCFRC) is comprised of over 10,000 families and individuals at increased risk of colorectal and other cancers. Existing standardized data include baseline epidemiologic and follow-up questionnaires, clinical data, blood, samples, tumor blocks, comprehensive genotype data, including genome-wide association study (GWAS) data on a substantial proportion of subjects, and extensive molecular characterization of the colorectal tumors. In this application, we seek funding to support the infrastructure and expansion of this cohort with the following specific aims: Aim 1: Maintain the cohort by active follow-up of the CCFRC by: (i) systematically updating personal and family history of cancer and vital status, personal risk factors, prevalence of colorectal polyps, and treatment and cancer recurrence data through questionnaires and interviews; (ii) validating all reports of incident cancers diagnosed since baseline; and (iii) verifying all reports of death against regional and national death registries; (iv) continuing and enhancing with state-of-the-art approaches our retention of cohort participants over time. We will also maintain the existing Biospecimen Repositories and informatics functions. Aim 2: Continue to molecularly characterize the cohort to maximize information and efficiently facilitate multiple types of research by: (i) conducting standardized pathology review for all incident colorectal cancer cases diagnosed since baseline; (ii) sub typing incident colorectal cancer tumors by immunohistochemistry, BRAF, K-ras, and MLH1 promoter methylation; (iii) genotyping, where indicated, participants for known familial mutations in DNA mismatch repair genes and MYH; and (iv) genotyping all participants who have not yet been genotyped for 16 SNPs discovered and validated by GWAS. Aim 3: Enhancement of the cohort with additional clinical and behavioral data by: (i) collecting and abstracting medical records of treatment and recurrence data on population-based cases of colorectal cancer in the cohort since inception, and on all incident cases of colorectal cancer since baseline in selected centers that are able to accomplish this in a cost-effective manner; and (ii) strategically collecting colonoscopy and pathology reports of colonic polyps when possible for high-risk participants (i.e. Lynch Syndrome, Type X, and bi-allelic MYH carriers); and (iii) collecting additional behavioral data by questionnaire that will enhance retention of the cohort and facilitate the translation of CCFRC discoveries into clinical or public health practice. Aim 4: Continue to expand the use of the CCFRC and its resources through active collaborations with the larger scientific community.

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Publications

Family history of colorectal cancer is not associated with colorectal cancer survival regardless of microsatellite instability status.
Authors: Phipps AI, Ahnen DJ, Campbell PT, Win AK, Jenkins MA, Lindor NM, Gryfe R, Potter JD, Newcomb PA
Source: Cancer Epidemiol Biomarkers Prev, 2014 Aug;23(8), p. 1700-4.
EPub date: 2014 Jun 2.
PMID: 24891550
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Does risk of endometrial cancer for women without a germline mutation in a DNA mismatch repair gene depend on family history of endometrial cancer or colorectal cancer?
Authors: Bharati R, Jenkins MA, Lindor NM, Le Marchand L, Gallinger S, Haile RW, Newcomb PA, Hopper JL, Win AK
Source: Gynecol Oncol, 2014 May;133(2), p. 287-92.
EPub date: 2014 Mar 11.
PMID: 24631449
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A randomized trial to increase colonoscopy screening in members of high-risk families in the colorectal cancer family registry and cancer genetics network.
Authors: Lowery JT, Horick N, Kinney AY, Finkelstein DM, Garrett K, Haile RW, Lindor NM, Newcomb PA, Sandler RS, Burke C, Hill DA, Ahnen DJ
Source: Cancer Epidemiol Biomarkers Prev, 2014 Apr;23(4), p. 601-10.
EPub date: 2014 Feb 5.
PMID: 24501379
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A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.
Authors: Ahsan H, Halpern J, Kibriya MG, Pierce BL, Tong L, Gamazon E, McGuire V, Felberg A, Shi J, Jasmine F, Roy S, Brutus R, Argos M, Melkonian S, Chang-Claude J, Andrulis I, Hopper JL, John EM, Malone K, Ursin G, Gammon MD, Thomas DC, Seminara D, Casey G, Knight JA, Southey MC, Giles GG, Santella RM, Lee E, Conti D, Duggan D, Gallinger S, Haile R, Jenkins M, Lindor NM, Newcomb P, Michailidou K, Apicella C, Park DJ, Peto J, Fletcher O, dos Santos Silva I, Lathrop M, Hunter DJ, Chanock SJ, Meindl A, Schmutzler RK, Müller-Myhsok B, Lochmann M, Beckmann L, Hein R, Makalic E, Schmidt DF, Bui QM, Stone J, Flesch-Janys D, Dahmen N, Nevanlinna H, Aittomäki K, Blomqvist C, Hall P, Czene K, Irwanto A, Liu J, Rahman N, Turnbull C, Familial Breast Cancer Study, Dunning AM, Pharoah P, Waisfisz Q, Meijers-Heijboer H, Uitterlinden AG, Rivadeneira F, Nicolae D, Easton DF, Cox NJ, Whittemore AS
Source: Cancer Epidemiol Biomarkers Prev, 2014 Apr;23(4), p. 658-69.
EPub date: 2014 Feb 3.
PMID: 24493630
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Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer.
Authors: Win AK, Dowty JG, Cleary SP, Kim H, Buchanan DD, Young JP, Clendenning M, Rosty C, MacInnis RJ, Giles GG, Boussioutas A, Macrae FA, Parry S, Goldblatt J, Baron JA, Burnett T, Le Marchand L, Newcomb PA, Haile RW, Hopper JL, Cotterchio M, Gallinger S, Lindor NM, Tucker KM, Winship IM, Jenkins MA
Source: Gastroenterology, 2014 May;146(5), p. 1208-11.e1-5.
EPub date: 2014 Jan 17.
PMID: 24444654
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Genetic variation in the inflammation and innate immunity pathways and colorectal cancer risk.
Authors: Wang H, Taverna D, Stram DO, Fortini BK, Cheng I, Wilkens LR, Burnett T, Makar KW, Lindor NM, Hopper JL, Gallinger S, Baron JA, Haile R, Kolonel LN, Henderson BE, Newcomb PA, Casey G, Duggan D, Ulrich CM, Le Marchand L
Source: Cancer Epidemiol Biomarkers Prev, 2013 Nov;22(11), p. 2094-101.
EPub date: 2013 Sep 17.
PMID: 24045924
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COX-1 (PTGS1) and COX-2 (PTGS2) polymorphisms, NSAID interactions, and risk of colon and rectal cancers in two independent populations.
Authors: Makar KW, Poole EM, Resler AJ, Seufert B, Curtin K, Kleinstein SE, Duggan D, Kulmacz RJ, Hsu L, Whitton J, Carlson CS, Rimorin CF, Caan BJ, Baron JA, Potter JD, Slattery ML, Ulrich CM
Source: Cancer Causes Control, 2013 Dec;24(12), p. 2059-75.
PMID: 24022467
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Telomere length varies by DNA extraction method: implications for epidemiologic research.
Authors: Cunningham JM, Johnson RA, Litzelman K, Skinner HG, Seo S, Engelman CD, Vanderboom RJ, Kimmel GW, Gangnon RE, Riegert-Johnson DL, Baron JA, Potter JD, Haile R, Buchanan DD, Jenkins MA, Rider DN, Thibodeau SN, Petersen GM, Boardman LA
Source: Cancer Epidemiol Biomarkers Prev, 2013 Nov;22(11), p. 2047-54.
EPub date: 2013 Sep 9.
PMID: 24019396
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Genetic predictors of circulating 25-hydroxyvitamin d and risk of colorectal cancer.
Authors: Hiraki LT, Qu C, Hutter CM, Baron JA, Berndt SI, Bézieau S, Brenner H, Caan BJ, Casey G, Chang-Claude J, Chanock SJ, Conti DV, Duggan D, Fuchs CS, Gallinger S, Giovannucci EL, Harrison TA, Hayes RB, Hazra A, Henderson B, Hoffmeister M, Hopper JL, Hudson TJ, Jenkins MA, Küry S, Le Marchand L, Lemire M, Ma J, Manson JE, Nan H, Newcomb PA, Ng K, Potter JD, Schoen RE, Schumacher FR, Seminara D, Slattery ML, Wactawski-Wende J, White E, Wu K, Zanke BW, Kraft P, Peters U, Chan AT
Source: Cancer Epidemiol Biomarkers Prev, 2013 Nov;22(11), p. 2037-46.
EPub date: 2013 Aug 27.
PMID: 23983240
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Pleiotropic effects of genetic risk variants for other cancers on colorectal cancer risk: PAGE, GECCO and CCFR consortia.
Authors: Cheng I, Kocarnik JM, Dumitrescu L, Lindor NM, Chang-Claude J, Avery CL, Caberto CP, Love SA, Slattery ML, Chan AT, Baron JA, Hindorff LA, Park SL, Schumacher FR, Hoffmeister M, Kraft P, Butler AM, Duggan DJ, Hou L, Carlson CS, Monroe KR, Lin Y, Carty CL, Mann S, Ma J, Giovannucci EL, Fuchs CS, Newcomb PA, Jenkins MA, Hopper JL, Haile RW, Conti DV, Campbell PT, Potter JD, Caan BJ, Schoen RE, Hayes RB, Chanock SJ, Berndt SI, Küry S, Bézieau S, Ambite JL, Kumaraguruparan G, Richardson DM, Goodloe RJ, Dilks HH, Baker P, Zanke BW, Lemire M, Gallinger S, Hsu L, Jiao S, Harrison TA, Seminara D, Haiman CA, Kooperberg C, Wilkens LR, Hutter CM, White E, Crawford DC, Heiss G, Hudson TJ, Brenner H, Bush WS, Casey G, Le Marchand L, Peters U
Source: Gut, 2014 May;63(5), p. 800-7.
EPub date: 2013 Aug 9.
PMID: 23935004
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Fine-mapping of genome-wide association study-identified risk loci for colorectal cancer in African Americans.
Authors: Wang H, Haiman CA, Burnett T, Fortini BK, Kolonel LN, Henderson BE, Signorello LB, Blot WJ, Keku TO, Berndt SI, Newcomb PA, Pande M, Amos CI, West DW, Casey G, Sandler RS, Haile R, Stram DO, Le Marchand L
Source: Hum Mol Genet, 2013 Dec 15;22(24), p. 5048-55.
EPub date: 2013 Jul 12.
PMID: 23851122
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CCAT2, a novel noncoding RNA mapping to 8q24, underlies metastatic progression and chromosomal instability in colon cancer.
Authors: Ling H, Spizzo R, Atlasi Y, Nicoloso M, Shimizu M, Redis RS, Nishida N, Gafà R, Song J, Guo Z, Ivan C, Barbarotto E, De Vries I, Zhang X, Ferracin M, Churchman M, van Galen JF, Beverloo BH, Shariati M, Haderk F, Estecio MR, Garcia-Manero G, Patijn GA, Gotley DC, Bhardwaj V, Shureiqi I, Sen S, Multani AS, Welsh J, Yamamoto K, Taniguchi I, Song MA, Gallinger S, Casey G, Thibodeau SN, Le Marchand L, Tiirikainen M, Mani SA, Zhang W, Davuluri RV, Mimori K, Mori M, Sieuwerts AM, Martens JW, Tomlinson I, Negrini M, Berindan-Neagoe I, Foekens JA, Hamilton SR, Lanza G, Kopetz S, Fodde R, Calin GA
Source: Genome Res, 2013 Sep;23(9), p. 1446-61.
EPub date: 2013 Jun 24.
PMID: 23796952
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Detection of large scale 3' deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?
Authors: Clendenning M, Walsh MD, Gelpi JB, Thibodeau SN, Lindor N, Potter JD, Newcomb P, LeMarchand L, Haile R, Gallinger S, Colorectal Cancer Family Registry, Hopper JL, Jenkins MA, Rosty C, Young JP, Buchanan DD
Source: Fam Cancer, 2013 Sep;12(3), p. 563-6.
PMID: 23288611
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Absence of PMS2 mutations in colon-CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expression.
Authors: Clendenning M, Macrae FA, Walsh MD, Walters RJ, Thibodeau SN, Gunawardena SR, Potter JD, Haile RW, Gallinger S, Colorectal Cancer Family Registry, Hopper JL, Jenkins MA, Rosty C, Young JP, Buchanan DD
Source: Clin Genet, 2013 Jun;83(6), p. 591-3.
EPub date: 2012 Sep 27.
PMID: 23017166
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Meta-analysis of new genome-wide association studies of colorectal cancer risk.
Authors: Peters U, Hutter CM, Hsu L, Schumacher FR, Conti DV, Carlson CS, Edlund CK, Haile RW, Gallinger S, Zanke BW, Lemire M, Rangrej J, Vijayaraghavan R, Chan AT, Hazra A, Hunter DJ, Ma J, Fuchs CS, Giovannucci EL, Kraft P, Liu Y, Chen L, Jiao S, Makar KW, Taverna D, Gruber SB, Rennert G, Moreno V, Ulrich CM, Woods MO, Green RC, Parfrey PS, Prentice RL, Kooperberg C, Jackson RD, Lacroix AZ, Caan BJ, Hayes RB, Berndt SI, Chanock SJ, Schoen RE, Chang-Claude J, Hoffmeister M, Brenner H, Frank B, Bézieau S, Küry S, Slattery ML, Hopper JL, Jenkins MA, Le Marchand L, Lindor NM, Newcomb PA, Seminara D, Hudson TJ, Duggan DJ, Potter JD, Casey G
Source: Hum Genet, 2012 Feb;131(2), p. 217-34.
EPub date: 2011 Jul 15.
PMID: 21761138
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