Mutation Spectrum and Risk of Colorectal Cancer in African American Families with Lynch Syndrome

Gastroenterology

Volumn 149, Issue 6, 2015, Pages 1446-1453

  Guindalini, Rodrigo Santa Cruz ^a   Win, Aung Ko ^b   Gulden, Cassandra ^a   Lindor, Noralane M ^c   Newcomb, Polly A ^d   Haile, Robert W ^e   Raymond, Victoria ^f   Stoffel, Elena ^f   Hall, Michael ^g   Llor, Xavier ^h   Ukaegbu, Chinedu I ⁱ   Solomon, Ilana ^j   Weitzel, Jeffrey ^j   Kalady, Matthew ^k   Blanco, Amie ^l   Terdiman, Jonathan ^l   Shuttlesworth, Gladis A ^m   Lynch, Patrick M ^m   Hampel, Heather ⁿ   Lynch, Henry T ^o   Jenkins, Mark A ^b   Olopade, Olufunmilayo I ^a   Kupfer, Sonia S ^a   more..

^a UNIVERSITY OF CHICAGO   (United States)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c MAYO CLINIC   (United States)

^d USA   (United States)

^e STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF MICHIGAN   (United States)

^g FOX CHASE CANCER CENTER   (United States)

^h UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

ⁱ DANA FARBER CANCER INSTITUTE   (United States)

^j CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

^k LERNER RESEARCH INSTITUTE   (United States)

^l UNIVERSITY OF CALIFORNIA   (United States)

^m UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

ⁿ OHIO STATE UNIVERSITY   (United States)

^o CREIGHTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

African Descent; Colon Cancer; DNA Repair; Hereditary Non Polyposis Colorectal Cancer

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; ADENOSINE TRIPHOSPHATASE; DNA BINDING PROTEIN; DNA LIGASE; G-T MISMATCH-BINDING PROTEIN; MLH1 PROTEIN, HUMAN; MSH2 PROTEIN, HUMAN; MUTL PROTEIN HOMOLOG 1; NUCLEAR PROTEIN; PMS2 PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADULT; AFRICAN AMERICAN; ARTICLE; CANCER RISK; COLORECTAL CANCER; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE PRODUCT; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; MAJOR CLINICAL STUDY; MALE; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SEGREGATION ANALYSIS; AGE; AGED; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; FAMILY; GENETICS; INCIDENCE; MIDDLE AGED; MISMATCH REPAIR; MUTATION; RISK FACTOR; SEX DIFFERENCE; VERY ELDERLY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOSINE TRIPHOSPHATASES; ADULT; AFRICAN AMERICANS; AGE FACTORS; AGED; AGED, 80 AND OVER; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; FAMILY; FEMALE; HUMANS; INCIDENCE; MALE; MIDDLE AGED; MISMATCH REPAIR ENDONUCLEASE PMS2; MUTATION; MUTL PROTEIN HOMOLOG 1; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; RETROSPECTIVE STUDIES; RISK FACTORS; SEX FACTORS;

EID: 84945532743     PISSN: 00165085     EISSN: 15280012     Source Type: Journal    
DOI: 10.1053/j.gastro.2015.07.052     Document Type: Article

References (54)

1. N. Howlader, K.M. NA, J. Garshell, and et al. SEER cancer statistics review, 1975-2012 2014 National Cancer Institute/NIH/DHHS. Bethesda, MD Bethesda, MD
2. J.A. Laryea, E. Siegel, and S. Klimberg Racial disparity in colorectal cancer: the role of equal treatment Dis Colon Rectum 57 2014 295 302
3. A.S. Robbins, R.L. Siegel, and A. Jemal Racial disparities in stage-specific colorectal cancer mortality rates from 1985 to 2008 J Clin Oncol 30 2012 401 405
4. C. DeSantis, D. Naishadham, and A. Jemal Cancer statistics for African Americans, 2013 CA Cancer J Clin 63 2013 151 166
5. S. Agrawal, A. Bhupinderjit, M.S. Bhutani, and et al. Colorectal cancer in African Americans Am J Gastroenterol 100 2005 515 523 discussion 514
6. R.M. Xicola, M. Gagnon, J.R. Clark, and et al. Excess of proximal microsatellite-stable colorectal cancer in African Americans from a multiethnic study Clin Cancer Res 20 2014 4962 4970
7. G. Kouraklis, and E.P. Misiakos Hereditary nonpolyposis colorectal cancer (Lynch syndrome): criteria for identification and management Dig Dis Sci 50 2005 336 344
8. D.K. Rex, D.A. Johnson, J.C. Anderson, and et al. American College of Gastroenterology guidelines for colorectal cancer screening 2009 [corrected] Am J Gastroenterol 104 2009 739 750
9. S.S. Kupfer, and C.A. Burke Colorectal cancer screening and the "menu of options" Gastrointest Endosc 80 2014 862 864
10. S.S. Kupfer, J.R. Anderson, S. Hooker, and et al. Genetic heterogeneity in colorectal cancer associations between African and European Americans Gastroenterology 139 2010 1677 1685 1685 e1-e8
11. S.S. Kupfer, A.D. Skol, E. Hong, and et al. Shared and independent colorectal cancer risk alleles in TGFbeta-related genes in African and European Americans Carcinogenesis 35 2014 2025 2030
12. B. Jovov, F. Araujo-Perez, C.S. Sigel, and et al. Differential gene expression between African American and European American colorectal cancer patients PLoS One 7 2012 e30168
13. J.M. Carethers, B. Murali, B. Yang, and et al. Influence of race on microsatellite instability and CD8+ T cell infiltration in colon cancer PLoS One 9 2014 e100461
14. K. Guda, M.L. Veigl, V. Varadan, and et al. Novel recurrently mutated genes in African American colon cancers Proc Natl Acad Sci U S A 112 2015 1149 1154
15. K.W. Jasperson, T.M. Tuohy, D.W. Neklason, and et al. Hereditary and familial colon cancer Gastroenterology 138 2010 2044 2058
16. H.T. Lynch, and A. de la Chapelle Hereditary colorectal cancer N Engl J Med 348 2003 919 932
17. E. Stoffel, B. Mukherjee, V.M. Raymond, and et al. Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome Gastroenterology 137 2009 1621 1627
18. F. Quehenberger, H.F. Vasen, and H.C. van Houwelingen Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment J Med Genet 42 2005 491 496
19. J.G. Dowty, A.K. Win, D.D. Buchanan, and et al. Cancer risks for MLH1 and MSH2 mutation carriers Hum Mutat 34 2013 490 497
20. G.E. Palomaki, M.R. McClain, S. Melillo, and et al. EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome Genet Med 11 2009 42 65
21. T.K. Weber, H.M. Chin, M. Rodriguez-Bigas, and et al. Novel hMLH1 and hMSH2 germline mutations in African Americans with colorectal cancer JAMA 281 1999 2316 2320
22. P.A. Newcomb, J. Baron, M. Cotterchio, and et al. Colon Cancer Family Registry: an international resource for studies of the genetic epidemiology of colon cancer Cancer Epidemiol Biomarkers Prev 16 2007 2331 2343
23. F. Kastrinos, E.W. Steyerberg, R. Mercado, and et al. The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history Gastroenterology 140 2011 73 81
24. H.F. Vasen, P. Watson, J.P. Mecklin, and et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC Gastroenterology 116 1999 1453 1456
25. A. Umar, C.R. Boland, J.P. Terdiman, and et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability J Natl Cancer Inst 96 2004 261 268
26. J.T. den Dunnen, and S.E. Antonarakis Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion Hum Mutat 15 2000 7 12
27. M. Wildeman, E. van Ophuizen, J.T. den Dunnen, and et al. Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker Hum Mutat 29 2008 6 13
28. P. Peltomaki, and H. Vasen Mutations associated with HNPCC predisposition - update of ICG-HNPCC/INSiGHT mutation database Dis Markers 20 2004 269 276
29. M.O. Woods, P. Williams, A. Careen, and et al. A new variant database for mismatch repair genes associated with Lynch syndrome Hum Mutat 28 2007 669 673
30. P.C. Ng, and S. Henikoff Predicting deleterious amino acid substitutions Genome Res 11 2001 863 874
31. V. Ramensky, P. Bork, and S. Sunyaev Human non-synonymous SNPs: server and survey Nucleic Acids Res 30 2002 3894 3900
32. A.C. Antoniou, P.D. Pharoah, G. McMullan, and et al. Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study Genet Epidemiol 21 2001 1 18
33. K. Lange Mathematical and statistical methods for genetic analysis 2002 Springer New York
34. K. Lange, D. Weeks, and M. Boehnke Programs for pedigree analysis: MENDEL, FISHER, and dGENE Genet Epidemiol 5 1988 471 472
35. G. Gong, N. Hannon, and A.S. Whittemore Estimating gene penetrance from family data Genet Epidemiol 34 2010 373 381
36. P. Kraft, and D.C. Thomas Bias and efficiency in family-based gene-characterization studies: conditional, prospective, retrospective, and joint likelihoods Am J Hum Genet 66 2000 1119 1131
37. StataCorp. Stata statistical software: release 13. College Station, TX: StataCorp LP, 2013.
38. D.A. Berry Role of population-based studies in assessing genetic cancer risk J Natl Cancer Inst 93 2001 1188 1189
39. S.S. Kupfer, S. McCaffrey, and K.E. Kim Racial and gender disparities in hereditary colorectal cancer risk assessment: the role of family history J Cancer Educ 21 2006 S32 S36
40. K. Armstrong, B. Weber, P.A. Ubel, and et al. Interest in BRCA1/2 testing in a primary care population Prev Med 34 2002 590 595
41. N. Peters, A. Rose, and K. Armstrong The association between race and attitudes about predictive genetic testing Cancer Epidemiol Biomarkers Prev 13 2004 361 365
42. C. Hughes, A. Gomez-Caminero, J. Benkendorf, and et al. Ethnic differences in knowledge and attitudes about BRCA1 testing in women at increased risk Patient Educ Couns 32 1997 51 62
43. C. Hughes, C. Lerman, and E. Lustbader Ethnic differences in risk perception among women at increased risk for breast cancer Breast Cancer Res Treat 40 1996 25 35
44. C. Lerman, C. Hughes, J.L. Benkendorf, and et al. Racial differences in testing motivation and psychological distress following pretest education for BRCA1 gene testing Cancer Epidemiol Biomarkers Prev 8 1999 361 367
45. K. Armstrong, E. Micco, A. Carney, and et al. Racial differences in the use of BRCA1/2 testing among women with a family history of breast or ovarian cancer JAMA 293 2005 1729 1736
46. R.A. Barnetson, A. Tenesa, S.M. Farrington, and et al. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer N Engl J Med 354 2006 2751 2763
47. J.M. Cunningham, C.Y. Kim, E.R. Christensen, and et al. The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas Am J Hum Genet 69 2001 780 790
48. V. Pinol, A. Castells, M. Andreu, and et al. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer JAMA 293 2005 1986 1994
49. H. Hampel, W.L. Frankel, E. Martin, and et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer) N Engl J Med 352 2005 1851 1860
50. H.J. Murff, N.B. Peterson, R.A. Greevy, and et al. Early initiation of colorectal cancer screening in individuals with affected first-degree relatives J Gen Intern Med 22 2007 121 126
51. H.J. Murff, N.B. Peterson, J.H. Fowke, and et al. Colonoscopy screening in African Americans and Whites with affected first-degree relatives Arch Intern Med 168 2008 625 631
52. H.J. Murff, D.R. Spigel, and S. Syngal Does this patient have a family history of cancer? An evidence-based analysis of the accuracy of family cancer history JAMA 292 2004 1480 1489
53. P.F. Pinsky, B.S. Kramer, D. Reding, and et al. Reported family history of cancer in the prostate, lung, colorectal, and ovarian cancer screening trial Am J Epidemiol 157 2003 792 799
54. L.T. Bilheimer, and J.E. Sisk Collecting adequate data on racial and ethnic disparities in health: the challenges continue Health Aff (Millwood) 27 2008 383 391