|Grant Number:||1UM1CA167551-01A1 Interpret this number|
|Primary Investigator:||Haile, Robert|
|Project Title:||Colon Cancer Family Registry Cohort|
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.
Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene.
Authors: Win AK, Reece JC, Buchanan DD, Clendenning M, Young JP, Cleary SP, Kim H, Cotterchio M, Dowty JG, MacInnis RJ, Tucker KM, Winship IM, Macrae FA, Burnett T, Le Marchand L, Casey G, Haile RW, Newcomb PA, Thibodeau SN, Lindor NM, Hopper JL, Gallinger S, Jenkins MA
Source: Fam Cancer, 2015 Jul 23;null, p. null.
EPub date: 2015 Jul 23.
Female Hormonal Factors and the Risk of Endometrial Cancer in Lynch Syndrome.
Authors: Dashti SG, Chau R, Ouakrim DA, Buchanan DD, Clendenning M, Young JP, Winship IM, Arnold J, Ahnen DJ, Haile RW, Casey G, Gallinger S, Thibodeau SN, Lindor NM, Le Marchand L, Newcomb PA, Potter JD, Baron JA, Hopper JL, Jenkins MA, Win AK
Source: JAMA, 2015 Jul 7;314(1), p. 61-71.
Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry.
Authors: Yurgelun MB, Masciari S, Joshi VA, Mercado RC, Lindor NM, Gallinger S, Hopper JL, Jenkins MA, Buchanan DD, Newcomb PA, Potter JD, Haile RW, Kucherlapati R, Syngal S, Colon Cancer Family Registry
Source: JAMA Oncol, 2015 May 1;1(2), p. null.
Lynch syndrome and cervical cancer.
Authors: Antill YC, Dowty JG, Win AK, Thompson T, Walsh MD, Cummings MC, Gallinger S, Lindor NM, Le Marchand L, Hopper JL, Newcomb PA, Haile RW, Church J, Tucker KM, Buchanan DD, Young JP, Winship IM, Jenkins MA
Source: Int J Cancer, 2015 Jun 15;null, p. null.
EPub date: 2015 Jun 15.
Association between Body Mass Index and Mortality for Colorectal Cancer Survivors: Overall and by Tumor Molecular Phenotype.
Authors: Campbell PT, Newton CC, Newcomb PA, Phipps AI, Ahnen DJ, Baron JA, Buchanan DD, Casey G, Cleary SP, Cotterchio M, Farris AB, Figueiredo JC, Gallinger S, Green RC, Haile RW, Hopper JL, Jenkins MA, Le Marchand L, Makar KW, McLaughlin JR, Potter JD, Renehan AG, Sinicrope FA, Thibodeau SN, Ulrich CM, Win AK, Lindor NM, Limburg PJ
Source: Cancer Epidemiol Biomarkers Prev, 2015 Jun 2;null, p. null.
EPub date: 2015 Jun 2.
PIK3CA Somatic Mutation Status in Relation to Patient and Tumor Factors in Racial/Ethnic Minorities with Colorectal Cancer.
Authors: Phipps AI, Ahnen DJ, Cheng I, Newcomb PA, Win AK, Burnett T
Source: Cancer Epidemiol Biomarkers Prev, 2015 Jul;24(7), p. 1046-51.
EPub date: 2015 May 20.
A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.
Authors: Al-Tassan NA, Whiffin N, Hosking FJ, Palles C, Farrington SM, Dobbins SE, Harris R, Gorman M, Tenesa A, Meyer BF, Wakil SM, Kinnersley B, Campbell H, Martin L, Smith CG, Idziaszczyk S, Barclay E, Maughan TS, Kaplan R, Kerr R, Kerr D, Buchannan DD, Ko Win A, Hopper J, Jenkins M, Lindor NM, Newcomb PA, Gallinger S, Conti D, Schumacher F, Casey G, Dunlop MG, Tomlinson IP, Cheadle JP, Houlston RS
Source: Sci Rep, 2015 May 20;5, p. 10442.
EPub date: 2015 May 20.
Mendelian Randomization Study of Body Mass Index and Colorectal Cancer Risk.
Authors: Thrift AP, Gong J, Peters U, Chang-Claude J, Rudolph A, Slattery ML, Chan AT, Locke AE, Kahali B, Justice AE, Pers TH, Gallinger S, Hayes RB, Baron JA, Caan BJ, Ogino S, Berndt SI, Chanock SJ, Casey G, Haile RW, Du M, Harrison TA, Thornquist M, Duggan DJ, Le Marchand L, Lindor NM, Seminara D, Song M, Wu K, Thibodeau SN, Cotterchio M, Win AK, Jenkins MA, Hopper JL, Ulrich CM, Potter JD, Newcomb PA, Hoffmeister M, Brenner H, White E, Hsu L, Campbell PT
Source: Cancer Epidemiol Biomarkers Prev, 2015 Jul;24(7), p. 1024-31.
EPub date: 2015 May 14.
Childhood cancers in families with and without Lynch syndrome.
Authors: Heath JA, Reece JC, Buchanan DD, Casey G, Durno CA, Gallinger S, Haile RW, Newcomb PA, Potter JD, Thibodeau SN, Le Marchand L, Lindor NM, Hopper JL, Jenkins MA, Win AK
Source: Fam Cancer, 2015 May 12;null, p. null.
EPub date: 2015 May 12.
Association of the colorectal CpG island methylator phenotype with molecular features, risk factors, and family history.
Authors: Weisenberger DJ, Levine AJ, Long TI, Buchanan DD, Walters R, Clendenning M, Rosty C, Joshi AD, Stern MC, Le Marchand L, Lindor NM, Daftary D, Gallinger S, Selander T, Bapat B, Newcomb PA, Campbell PT, Casey G, Ahnen DJ, Baron JA, Haile RW, Hopper JL, Young JP, Laird PW, Siegmund KD, , for the Colon Cancer Family Registry
Source: Cancer Epidemiol Biomarkers Prev, 2015 Mar;24(3), p. 512-9.
EPub date: 2015 Jan 13.
Red meat intake, NAT2, and risk of colorectal cancer: a pooled analysis of 11 studies.
Authors: Ananthakrishnan AN, Du M, Berndt SI, Brenner H, Caan BJ, Casey G, Chang-Claude J, Duggan D, Fuchs CS, Gallinger S, Giovannucci EL, Harrison TA, Hayes RB, Hoffmeister M, Hopper JL, Hou L, Hsu L, Jenkins MA, Kraft P, Ma J, Nan H, Newcomb PA, Ogino S, Potter JD, Seminara D, Slattery ML, Thornquist M, White E, Wu K, Peters U, Chan AT
Source: Cancer Epidemiol Biomarkers Prev, 2015 Jan;24(1), p. 198-205.
EPub date: 2014 Oct 23.
Long-term psychosocial and behavioral adjustment in individuals receiving genetic test results in Lynch syndrome.
Authors: Esplen MJ, Wong J, Aronson M, Butler K, Rothenmund H, Semotiuk K, Madlensky L, Way C, Dicks E, Green J, Gallinger S
Source: Clin Genet, 2015 Jun;87(6), p. 525-32.
EPub date: 2014 Oct 28.
No evidence of gene-calcium interactions from genome-wide analysis of colorectal cancer risk.
Authors: Du M, Zhang X, Hoffmeister M, Schoen RE, Baron JA, Berndt SI, Brenner H, Carlson CS, Casey G, Chan AT, Curtis KR, Duggan D, Gauderman WJ, Giovannucci EL, Gong J, Harrison TA, Hayes RB, Henderson BE, Hopper JL, Hsu L, Hudson TJ, Hutter CM, Jenkins MA, Jiao S, Kocarnik JM, Kolonel LN, Le Marchand L, Lin Y, Newcomb PA, Rudolph A, Seminara D, Thornquist MD, Ulrich CM, White E, Wu K, Zanke BW, Campbell PT, Slattery ML, Peters U, Chang-Claude J, Potter JD, Colon Cancer Family Registry and Genetics and Epidemiology of Colorectal Cancer Consortium
Source: Cancer Epidemiol Biomarkers Prev, 2014 Dec;23(12), p. 2971-6.
EPub date: 2014 Sep 5.
High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry.
Authors: Rosty C, Walsh MD, Lindor NM, Thibodeau SN, Mundt E, Gallinger S, Aronson M, Pollett A, Baron JA, Pearson S, Clendenning M, Walters RJ, Nagler BN, Crawford WJ, Young JP, Winship I, Win AK, Hopper JL, Jenkins MA, Buchanan DD
Source: Fam Cancer, 2014 Dec;13(4), p. 573-82.
A novel colorectal cancer risk locus at 4q32.2 identified from an international genome-wide association study.
Authors: Schmit SL, Schumacher FR, Edlund CK, Conti DV, Raskin L, Lejbkowicz F, Pinchev M, Rennert HS, Jenkins MA, Hopper JL, Buchanan DD, Lindor NM, Le Marchand L, Gallinger S, Haile RW, Newcomb PA, Huang SC, Rennert G, Casey G, Gruber SB
Source: Carcinogenesis, 2014 Nov;35(11), p. 2512-9.
EPub date: 2014 Jul 14.
Gene-environment interaction involving recently identified colorectal cancer susceptibility Loci.
Authors: Kantor ED, Hutter CM, Minnier J, Berndt SI, Brenner H, Caan BJ, Campbell PT, Carlson CS, Casey G, Chan AT, Chang-Claude J, Chanock SJ, Cotterchio M, Du M, Duggan D, Fuchs CS, Giovannucci EL, Gong J, Harrison TA, Hayes RB, Henderson BE, Hoffmeister M, Hopper JL, Jenkins MA, Jiao S, Kolonel LN, Le Marchand L, Lemire M, Ma J, Newcomb PA, Ochs-Balcom HM, Pflugeisen BM, Potter JD, Rudolph A, Schoen RE, Seminara D, Slattery ML, Stelling DL, Thomas F, Thornquist M, Ulrich CM, Warnick GS, Zanke BW, Peters U, Hsu L, White E
Source: Cancer Epidemiol Biomarkers Prev, 2014 Sep;23(9), p. 1824-33.
EPub date: 2014 Jul 3.
Genetic variation in prostaglandin synthesis and related pathways, NSAID use and colorectal cancer risk in the Colon Cancer Family Registry.
Authors: Resler AJ, Makar KW, Heath L, Whitton J, Potter JD, Poole EM, Habermann N, Scherer D, Duggan D, Wang H, Lindor NM, Passarelli MN, Baron JA, Newcomb PA, Le Marchand L, Ulrich CM
Source: Carcinogenesis, 2014 Sep;35(9), p. 2121-6.
EPub date: 2014 Jun 7.
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.
Genome-wide diet-gene interaction analyses for risk of colorectal cancer.
Authors: Figueiredo JC, Hsu L, Hutter CM, Lin Y, Campbell PT, Baron JA, Berndt SI, Jiao S, Casey G, Fortini B, Chan AT, Cotterchio M, Lemire M, Gallinger S, Harrison TA, Le Marchand L, Newcomb PA, Slattery ML, Caan BJ, Carlson CS, Zanke BW, Rosse SA, Brenner H, Giovannucci EL, Wu K, Chang-Claude J, Chanock SJ, Curtis KR, Duggan D, Gong J, Haile RW, Hayes RB, Hoffmeister M, Hopper JL, Jenkins MA, Kolonel LN, Qu C, Rudolph A, Schoen RE, Schumacher FR, Seminara D, Stelling DL, Thibodeau SN, Thornquist M, Warnick GS, Henderson BE, Ulrich CM, Gauderman WJ, Potter JD, White E, Peters U, CCFR, GECCO
Source: PLoS Genet, 2014 Apr;10(4), p. e1004228.
EPub date: 2014 Apr 17.
Fertility and apparent genetic anticipation in Lynch syndrome.
Authors: Stupart D, Win AK, Jenkins M, Winship IM, Goldberg P, Ramesar R
Source: Fam Cancer, 2014 Sep;13(3), p. 369-74.
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.
Colorectal cancer and self-reported tooth agenesis.
Authors: Lindor NM, Win AK, Gallinger S, Daftary D, Thibodeau SN, Silva R, Letra A
Source: Hered Cancer Clin Pract, 2014 Mar 10;12(1), p. 7.
EPub date: 2014 Mar 10.
The association of telomere length with colorectal cancer differs by the age of cancer onset.
Authors: Boardman LA, Litzelman K, Seo S, Johnson RA, Vanderboom RJ, Kimmel GW, Cunningham JM, Gangnon RE, Engelman CD, Riegert-Johnson DL, Potter J, Haile R, Buchanan D, Jenkins MA, Rider DN, Thibodeau SN, Petersen GM, Skinner HG
Source: Clin Transl Gastroenterol, 2014 Mar 6;5, p. e52.
EPub date: 2014 Mar 6.
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.
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.
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Authors: Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M, InSiGHT
Source: Nat Genet, 2014 Feb;46(2), p. 107-15.
EPub date: 2013 Dec 22.
Communication of genetic test results to family and health-care providers following disclosure of research results.
Authors: Graves KD, Sinicrope PS, Esplen MJ, Peterson SK, Patten CA, Lowery J, Sinicrope FA, Nigon SK, Borgen J, Gorin SS, Keogh LA, Lindor NM, Behavioral Working Group of the Colon Cancer Family Registry
Source: Genet Med, 2014 Apr;16(4), p. 294-301.
EPub date: 2013 Oct 3.
No association between germline variation in catechol-O-methyltransferase and colorectal cancer survival in postmenopausal women.
Authors: Passarelli MN, Newcomb PA, Makar KW, Burnett-Hartman AN, Phipps AI, David SP, Hsu L, Harrison TA, Hutter CM, Duggan DJ, White E, Chan AT, Peters U
Source: Menopause, 2014 Apr;21(4), p. 415-20.
Perceived versus predicted risks of colorectal cancer and self-reported colonoscopies by members of mismatch repair gene mutation-carrying families who have declined genetic testing.
Authors: Flander L, Speirs-Bridge A, Rutstein A, Niven H, Win AK, Ait Ouakrim D, Hopper JL, Macrae F, Keogh L, Gaff C, Jenkins M
Source: J Genet Couns, 2014 Feb;23(1), p. 79-88.
EPub date: 2013 Jun 9.
How do researchers manage genetic results in practice? The experience of the multinational Colon Cancer Family Registry.
Authors: Keogh LA, Fisher D, Sheinfeld Gorin S, Schully SD, Lowery JT, Ahnen DJ, Maskiell JA, Lindor NM, Hopper JL, Burnett T, Holter S, Arnold JL, Gallinger S, Laurino M, Esplen MJ, Sinicrope PS, Colon Cancer Family Registry
Source: J Community Genet, 2014 Apr;5(2), p. 99-108.
EPub date: 2013 May 24.