Role of tumour molecular and pathology features to estimate colorectal cancer risk for first-degree relatives

Gut

Volumn 64, Issue 1, 2015, Pages 101-110

  Win, Aung K ^a   Buchanan, Daniel D ^b   Rosty, Christophe ^b,c,d   MacInnis, Robert J ^a,e   Dowty, James G ^a   Dite, Gillian S ^a   Giles, Graham G ^a,e   Southey, Melissa C ^f   Young, Joanne P ^b   Clendenning, Mark ^b   Walsh, Michael D ^b   Walters, Rhiannon J ^b   Boussioutas, Alex ^f,g   Smyrk, Thomas C ^h   Thibodeau, Stephen N ^h   Baron, John A ⁱ   Potter, John D ^j,k,l   Newcomb, Polly A ^j,k   Le Marchand, Loïc ^m   Haile, Robert W ⁿ   Gallinger, Steven ^o,p   Lindor, Noralane M ^q   Hopper, John L ^a   Ahnen, Dennis J ^r   Jenkins, Mark A ^a   more..

^a UNIVERSITY OF MELBOURNE   (Australia)

^b QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^c UNIVERSITY OF QUEENSLAND   (Australia)

^d Envoi Specialist Pathologists   (Australia)

^e CANCER EPIDEMIOLOGY CENTRE   (Australia)

^f UNIVERSITY OF MELBOURNE   (Australia)

^g PETER MACCALLUM CANCER CENTRE   (Australia)

^h MAYO CLINIC   (United States)

ⁱ UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^j Fred Hutchinson Cancer Research Center   (United States)

^k UNIVERSITY OF WASHINGTON   (United States)

^l MASSEY UNIVERSITY   (New Zealand)

^m UNIVERSITY OF HAWAII   (United States)

ⁿ STANFORD CANCER INSTITUTE   (United States)

^o MOUNT SINAI HOSPITAL   (Canada)

^p CANCER CARE ONTARIO   (Canada)

^q MAYO CLINIC   (United States)

^r UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; AUSTRALIA; CANADA; CANCER REGISTRY; CANCER RISK; CLINICAL FEATURE; COHORT ANALYSIS; COLORECTAL CANCER; FEMALE; FIRST DEGREE RELATIVE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; LYMPHOCYTE; MAJOR CLINICAL STUDY; MALE; MISMATCH REPAIR; MOLECULAR PATHOLOGY; UNITED STATES; ADOLESCENT; COLORECTAL NEOPLASMS; FAMILY HEALTH; GENETICS; MIDDLE AGED; PATHOLOGY; RISK ASSESSMENT; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; COHORT STUDIES; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; FAMILY HEALTH; FEMALE; HUMANS; MALE; MIDDLE AGED; RISK ASSESSMENT; YOUNG ADULT;

EID: 84919712496     PISSN: 00175749     EISSN: 14683288     Source Type: Journal    
DOI: 10.1136/gutjnl-2013-306567     Document Type: Article

References (64)

1. Taylor DP, Burt RW, Williams MS, et al. Population-based family history-specific risks for colorectal cancer: a constellation approach. Gastroenterology 2010; 138: 877-85.
2. Johns LE, Houlston RS. A systematic review and meta-analysis of familial colorectal cancer risk. Am J Gastroenterol 2001; 96: 2992-3003.
3. Cairns SR, Scholefield JH, Steele RJ, et al. Guidelines for colorectal cancer screening and surveillance in moderate and high risk groups (update from 2002). Gut 2010; 59: 666-89.
4. Screening for colorectal cancer: U.S. Preventive Services Task Force recommendation statement. Ann Intern Med 2008; 149: 627-37.
5. Smith RA, Cokkinides V, Brooks D, et al. Cancer screening in the United States, 2011: a review of current American Cancer Society guidelines and issues in cancer screening. CA Cancer J Clin 2011; 61: 8-30.
6. Australian Cancer Network Colorectal Cancer Guidelines Revision Committee. Clinical practice guidelines for the prevention, early detection and management of colorectal cancer. Sydney: The Cancer Council Australia and Australian Cancer Network, 2005.
7. Win AK, Young JP, Lindor NM, et al. Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study. J Clin Oncol 2012; 30: 958-64.
8. Win AK, Lindor NM, Winship I, et al. Risks of colorectal and other cancers after endometrial cancer for women with Lynch syndrome. J Natl Cancer Inst 2013; 105: 274-9.
9. Win AK, Lindor NM, Young JP, et al. Risks of primary extracolonic cancers following colorectal cancer in Lynch syndrome. J Natl Cancer Inst 2012; 104: 1363-72.
10. Win AK, Ait Ouakrim D, Jenkins MA. Risk profiling: familial colorectal cancer. Cancer Forum 2014 (in Press).
11. Hopper JL Disease-specific prospective family study cohorts enriched for familial risk. Epidemiol Perspect Innov 2011; 8: 2.
12. Southey MC, Ramus SJ, Dowty JG, et al. Morphological predictors of BRCA1 germline mutations in young women with breast cancer. Br J Cancer 2011; 104: 903-9.
13. Dite GS, Makalic E, Schmidt DF, et al. Tumour morphology of early-onset breast cancers predicts breast cancer risk for first-degree relatives: the Australian Breast Cancer Family Registry. Breast Cancer Res 2012; 14:R122.
14. Hopper JL, Jenkins MA, Dowty JG, et al. Using tumour pathology to identify people at high genetic risk of breast and colorectal cancers. Pathology 2012; 44: 89-98.
15. Jass JR Classification of colorectal cancer based on correlation of clinical, morphological and molecular features. Histopathology 2007; 50: 113-30.
16. Jenkins MA, Hayashi S, O'Shea AM, et al. Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: a population-based study. Gastroenterology 2007; 133: 48-56.
17. Newcomb PA, Baron J, Cotterchio M, et al. Colon Cancer Family Registry: an international resource for studies of the genetic epidemiology of colon cancer. Cancer Epidemiol Biomarkers Prev 2007; 16: 2331-43.
18. Fritz A, Percy C, Jack A, et al, eds. International Classification of Diseases for Oncology (ICD-O). 3rd ed. Geneva: World Health Organization, 2000.
19. Jass JR, Love SB, Northover JM. A new prognostic classification of rectal cancer. Lancet 1987; 1: 1303-6.
20. Young J, Simms LA, Biden KG, et al. Features of colorectal cancers with high-level microsatellite instability occurring in familial and sporadic settings: parallel pathways of tumorigenesis. Am J Pathol 2001; 159: 2107-16.
21. Graham DM, Appelman HD. Crohn's-like lymphoid reaction and colorectal carcinoma: a potential histologic prognosticator. Mod Pathol 1990; 3: 332-5.
22. Lindor NM, Burgart LJ, Leontovich O, et al. Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol 2002; 20: 1043-8.
23. Senter L, Clendenning M, Sotamaa K, et al. The clinical phenotype of lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 2008; 135: 419-28.
24. Southey MC, Jenkins MA, Mead L, et al. Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer. J Clin Oncol 2005; 23: 6524-32.
25. Rumilla K, Schowalter KV, Lindor NM, et al. Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases. J Mol Diagn 2011; 13: 93-9.
26. Buchanan DD, Sweet K, Drini M, et al. Risk factors for colorectal cancer in patients with multiple serrated polyps: a cross-sectional case series from genetics clinics. PLoS One 2010; 5:e11636.
27. Buchanan DD, Win AK, Walsh MD, et al. Family history of colorectal cancer in BRAF p.V600E mutated colorectal cancer cases. Cancer Epidemiol Biomarkers Prev 2013; 22: 917-26.
28. Weisenberger DJ, Campan M, Long TI, et al. Analysis of repetitive element DNA methylation by MethyLight. Nucleic Acids Res 2005; 33: 6823-36.
29. Poynter JN, Siegmund KD, Weisenberger DJ, et al. Molecular characterization of MSI-H colorectal cancer by MLHI promoter methylation, immunohistochemistry, and mismatch repair germline mutation screening. Cancer Epidemiol Biomarkers Prev 2008; 17: 3208.
30. Ries L, Eisner M, Kosary C, et al, eds. SEER cancer statistics review, 1975-2000. Bethesda, MD: National Cancer Institute, 2003.
31. Parkin DM, Whelan SL, Ferlay J, et al. Cancer Incidence in Five Continents, Vol. VII (1988-1992). Lyon: IARC CancerBase No. 7, 2005.
32. Gould W. Jackknife estimation. Stata Technical Bulletin 1995; 4: 25-9.
33. Rogers WH Regression standard errors in clustered samples. Stata Technical Bulletin 1993; 3: 19-23.
34. van Buuren S, Boshuizen HC, Knook DL. Multiple imputation of missing blood pressure covariates in survival analysis. Stat Med 1999; 18: 681-94.
35. Ali AM, Dawson SJ, Blows FM, et al. Comparison of methods for handling missing data on immunohistochemical markers in survival analysis of breast cancer. Br J Cancer 2011; 104: 693-9.
36. Schafer JL Multiple imputation: a primer. Stat Methods Med Res 1999; 8: 3-15.
37. Rubin DB Multiple imputation for nonresponse in surveys. Wiley.com, 2009.
38. Bodner TE What improves with increased missing data imputations? Struct Equation Model 2008; 15: 651-75.
39. Carlin JB, Li N, Greenwood P, et al. Tools for analyzing multiple imputed datasets. Stata J 2003; 3: 226-44.
40. StataCorp. Stata Statistical Software: Release 12. College Station, TX: StataCorp LP, 2011.
41. Rodriguez-Soler M, Perez-Carbonell L, Guarinos C, et al. Risk of cancer in cases of suspected lynch syndrome without germline mutation. Gastroenterology 2013; 144: 926-32.
42. Ligtenberg MJ, Kuiper RP, Chan TL, et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. Nat Genet 2009; 41: 112-17.
43. Clendenning M, Buchanan DD, Walsh MD, et al. Mutation deep within an intron of MSH2 causes Lynch syndrome. Fam Cancer 2011; 10: 297-301.
44. Morak M, Koehler U, Schackert HK, et al. Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome. J Med Genet 2011; 48: 513-19.
45. Dowty JG, Win AK, Buchanan DD, et al. Cancer risks for MLH1 and MSH2 mutation carriers. Hum Mutat 2013; 34: 490-7.
46. Thompson BA, Goldgar DE, Paterson C, et al. A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. Hum Mutat 2013; 34: 200-9.
47. Thompson BA, Spurdle AB, Plazzer JP, et al. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nat Genet 2014; 46: 107-15.
48. Sourrouille I, Coulet F, Lefevre JH, et al. Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors. Fam Cancer 2013; 12: 27-33.
49. Mensenkamp AR, Vogelaar IP, van Zelst-Stams WA, et al. Somatic mutations in MLH1 and MSH2 are a Frequent Cause of Mismatch-repair Deficiency in Lynch Syndrome-like Tumors. Gastroenterology 2014; 146: 643-6.
50. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology Version 1.2013. Colorectal Cancer Screening: National Comprehensive Cancer Network, 2013 [cited 2013 June 24]. http://www.nccn.org/professionals/physician-gls/pdf/colorectal-screening.pdf
51. Limsui D, Vierkant RA, Tillmans LS, et al. Cigarette smoking and colorectal cancer risk by molecularly defined subtypes. J Natl Cancer Inst 2010; 102: 1012-22.
52. Young J, Jass JR. The case for a genetic predisposition to serrated neoplasia in the colorectum: hypothesis and review of the literature. Cancer Epidemiol Biomarkers Prev 2006; 15: 1778-84.
53. Roberts A, Nancarrow D, Clendenning M, et al. Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome). Fam Cancer 2011; 10: 245-54.
54. Snover DC, Ahnen DJ, Burt RW, et al. Serrated polyps of the colon and rectum and serrated polyposis. In: Bosman FT, Carneiro F, Hruban RH, et al., eds. WHO classification of tumours of the digestive system. 4th edn. Lyon, France: IARC, 2010: 160-5.
55. Wish T, Hyde A, Parfrey P, et al. Increased Cancer Predisposition in Family Members of Colorectal Cancer Patients Harboring the p. V600E BRAF Mutation: a Population-Based Study. Cancer Epidemiol Biomarkers Prev 2010; 19: 1831-9.
56. Samowitz WS, Sweeney C, Herrick J, et al. Poor survival associated with the BRAF V600E mutation in microsatellite-stable colon cancers. Cancer Res 2005; 65: 6063-9.
57. Vandrovcova J, Lagerstedt-Robinsson K, Påhlman L, et al. Somatic BRAF-V600E Mutations in Familial Colorectal Cancer. Cancer Epidemiol Biomarkers Prev 2006; 15: 2270-3.
58. Goel A, Xicola RM, Nguyen TP, et al. Aberrant DNA methylation in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency. Gastroenterology 2010; 138: 1854-62.
59. Ogino S, Nishihara R, Lochhead P, et al. Prospective study of family history and colorectal cancer risk by tumor LINE-1 methylation level. J Natl Cancer Inst 2013; 105: 130-40.
60. Weinstein JN, Collisson EA, Mills GB, et al. The Cancer Genome Atlas Pan-Cancer analysis project. Nat Genet 2013; 45: 1113-20.
61. Hampel H, Frankel WL, Martin E, et al. Screening for the Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer). N Engl J Med 2005; 352: 1851-60.
62. Yamauchi M, Lochhead P, Morikawa T, et al. Colorectal cancer: a tale of two sides or a continuum? Gut 2012; 61: 794-7.
63. Beck AH, Sangoi AR, Leung S, et al. Systematic analysis of breast cancer morphology uncovers stromal features associated with survival. Sci Transl Med 2011; 3: 108ra13.
64. Ziogas A, Anton-Culver H. Validation of family history data in cancer family registries. Am J Prev Med 2003; 24: 190-8.