Risks of primary extracolonic cancers following colorectal cancer in lynch syndrome

Journal of the National Cancer Institute

Volumn 104, Issue 18, 2012, Pages 1363-1372

  Win, Aung Ko ^a   Lindor, Noralane M ^c   Young, Joanne P ^d,g   MacRae, Finlay A ⁱ   Young, Graeme P ^j   Williamson, Elizabeth ^a,k   Parry, Susan ^l,m,n   Goldblatt, Jack ^l   Lipton, Lara ^v   Winship, Ingrid ^b,i   Leggett, Barbara ^e,f,g,o   Tucker, Katherine M ^p   Giles, Graham G ^q   Buchanan, Daniel D ^d   Clendenning, Mark ^d   Rosty, Christophe ^d,h   Arnold, Julie ^u   Joan Levine, A ^r   Haile, Robert W ^r   Gallinger, Steven ^s,t   Marchand, Loïc Le ^u   Newcomb, Polly A ^a   Hopper, John L ^a   Jenkins, Mark A ^a   more..

^a UNIVERSITY OF MELBOURNE   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c MAYO CLINIC   (United States)

^d Cancer and Population Studies Group   (Australia)

^e Queensland Institute of Medical Research ^*  (Australia)

^f QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^g SCHOOL OF MEDICINE   (United States)

^h UNIVERSITY OF QUEENSLAND   (Australia)

ⁱ ROYAL MELBOURNE HOSPITAL   (Australia)

^j FLINDERS UNIVERSITY   (Australia)

^k MONASH UNIVERSITY   (Australia)

^l AUCKLAND CITY HOSPITAL   (New Zealand)

^m MIDDLEMORE HOSPITAL   (New Zealand)

ⁿ UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^o ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^p PRINCE OF WALES HOSPITAL   (Australia)

^q CANCER EPIDEMIOLOGY CENTRE   (Australia)

^r UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^s MOUNT SINAI HOSPITAL   (Canada)

^t CANCER CARE ONTARIO   (Canada)

^u UNIVERSITY OF HAWAII CANCER CENTER   (United States)

^v USA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; BLADDER CANCER; BONE CANCER; BRAIN CANCER; BREAST CANCER; CANCER INCIDENCE; CANCER REGISTRY; CANCER RISK; COLORECTAL CANCER; CONTROLLED STUDY; ENDOMETRIUM CANCER; FEMALE; GENE; GENE MUTATION; HEMATOLOGIC MALIGNANCY; HEPATOBILIARY SYSTEM CANCER; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HETEROZYGOTE; HIGH RISK POPULATION; HUMAN; KIDNEY CANCER; KIDNEY PELVIS CANCER; LUNG CANCER; MAJOR CLINICAL STUDY; MALE; MLH1 GENE; MSH2 GENE; MSH6 GENE; OVARY CANCER; PANCREAS CANCER; PRIMARY TUMOR; PRIORITY JOURNAL; PROSTATE CANCER; PSM2 GENE; RISK ASSESSMENT; SMALL INTESTINE CANCER; STOMACH CANCER; URETER CANCER;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOSINE TRIPHOSPHATASES; AGED; AUSTRALIA; BREAST NEOPLASMS; CANADA; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; CONFOUNDING FACTORS (EPIDEMIOLOGY); DIGESTIVE SYSTEM NEOPLASMS; DNA MISMATCH REPAIR; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; FEMALE; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; KAPLAN-MEIER ESTIMATE; MALE; MIDDLE AGED; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; REGISTRIES; RISK ASSESSMENT; RISK FACTORS; UNITED STATES; UROGENITAL NEOPLASMS;

EID: 84866658167     PISSN: 00278874     EISSN: 14602105     Source Type: Journal    
DOI: 10.1093/jnci/djs351     Document Type: Article

References (71)

1. Centers for Disease Control and Prevention. Cancer survivorship-United States, 1971-2001. MMWR Morb Mortal Wkly Rep. 2004;53(24):526-529.
2. Hoar SK, Wilson J, Blot WJ, McLaughlin JK, Winn DM, Kantor AF. Second cancer following cancer of the digestive system in Connecticut, 1935-82. Natl Cancer Inst Monogr. 1985;68:49-82.
3. Lynge E, Jensen OM, Carstensen B. Second cancer following cancer of the digestive system in Denmark, 1943-80. Natl Cancer Inst Monogr. 1985;68:277-308.
4. Teppo L, Pukkala E, Sax E. Multiple cancer-an epidemiologic exercise in Finland. J Natl Cancer Inst. 1985;75(2):207-217.
5. Enblad P, Adami HO, Glimelius B, Krusemo U, P?lman L. The risk of subsequent primary malignant diseases after cancers of the colon and rectum. A nationwide cohort study. Cancer. 1990;65(9):2091-2100.
6. Levi F, Randimbison L, Te VC, Rolland-Portal I, Franceschi S, La Vecchia C. Multiple primary cancers in the Vaud Cancer Registry, Switzerland, 1974-89. Br J Cancer. 1993;67(2):391-395.
7. Tsukuma H, Fujimoto I, Hanai A, Hiyama T, Kitagawa T, Kinoshita N. Incidence of second primary cancers in Osaka residents, Japan, with special reference to cumulative and relative risks. Jpn J Cancer Res. 1994;85(4): 339-345.
8. Slattery ML, Mori M, Gao R, Kerber RA. Impact of family history of colon cancer on development of multiple primaries after diagnosis of colon cancer. Dis Colon Rectum. 1995;38(10):1053-1058.
9. Buiatti E, Crocetti E, Acciai S, et al. Incidence of second primary cancers in three Italian population-based cancer registries. Eur J Cancer. 1997;33(11):1829-1834.
10. McCredie M, Macfarlane GJ, Bell J, Coates M. Second primary cancers after cancers of the colon and rectum in New South Wales, Australia, 1972-1991. Cancer Epidemiol Biomarkers Prev. 1997;6(3):155-160.
11. Levi F, Randimbison L, La Vecchia C, Te VC, Franceschi S. Cancer risk following polyps or cancer of the large bowel in Vaud, Switzerland. Int J Cancer. 1999;80(4):634-635.
12. Crocetti E, Buiatti E, Falini P; Italian Multiple Primary Cancer Working Group. Multiple primary cancer incidence in Italy. Eur J Cancer. 2001;37(18):2449-2456.
13. Hemminki K, Li X, Dong C. Second primary cancers after sporadic and familial colorectal cancer. Cancer Epidemiol Biomarkers Prev. 2001;10(7):793-798.
14. Evans HS, M?ler H, Robinson D, Lewis CM, Bell CM, Hodgson SV. The risk of subsequent primary cancers after colorectal cancer in southeast England. Gut. 2002;50(5):647-652.
15. Heard A, Roder D, Luke C. Multiple primary cancers of separate organ sites: implications for research and cancer control (Australia). Cancer Causes Control. 2005;16(5):475-481.
16. Ahmed F, Goodman MT, Kosary C, et al. Excess risk of subsequent primary cancers among colorectal carcinoma survivors, 1975-2001. Cancer. 2006;107(5)(suppl):1162-1171.
17. Mysliwiec PA, Cronin KA, Schatzkin A. New malignancies following cancer of the colon, rectum, and anus. In: Curtis RE, Freedman DM, Ron E, et al., eds. New Malignancies Among Cancer Survivors: SEER Cancer Registries, 1973-2000. Bethesda, MD: National Cancer Institute; 2006: 111-144.
18. Kendal WS, Nicholas G. A population-based analysis of second primary cancers after irradiation for rectal cancer. Am J Clin Oncol. 2007;30(4):333-339.
19. Calderwood AH, Huo D, Rubin DT. Association between colorectal cancer and urologic cancers. Arch Intern Med. 2008;168(9):1003-1009.
20. Karahalios E, English D, Thursfield V, et al. Second primary cancers in Victoria. Melbourne, Australia: Victorian Cancer Registry, Cancer Epidemiology Centre, Cancer Council Victoria; 2009.
21. Youlden DR, Baade PD. The relative risk of second primary cancers in Queensland, Australia: a retrospective cohort study. BMC Cancer. 2011;11:83.
22. Travis LB, Rabkin CS, Brown LM, et al. Cancer survivorship-genetic susceptibility and second primary cancers: research strategies and recommendations. J Natl Cancer Inst. 2006;98(1):15-25.
23. Mariotto AB, Rowland JH, Ries LA, Scoppa S, Feuer EJ. Multiple cancer prevalence: a growing challenge in long-term survivorship. Cancer Epidemiol Biomarkers Prev. 2007;16(3):566-571.
24. Travis LB. The epidemiology of second primary cancers. Cancer Epidemiol Biomarkers Prev. 2006;15(11):2020-2026.
25. Jass JR. Hereditary Non-Polyposis Colorectal Cancer: the rise and fall of a confusing term. World J Gastroenterol. 2006;12(31):4943-4950.
26. Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med. 2003;348(10):919-932.
27. Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004;96(4):261-268.
28. Kastrinos F, Mukherjee B, Tayob N, et al. Risk of pancreatic cancer in families with Lynch syndrome. JAMA. 2009;302(16):1790-1795.
29. Baglietto L, Lindor NM, Dowty JG, et al.; Dutch Lynch Syndrome Study Group. Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst. 2010;102(3):193-201.
30. Jenkins MA, Baglietto L, Dowty JG, et al. Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study. Clin Gastroenterol Hepatol. 2006;4(4):489-498.
31. Senter L, Clendenning M, Sotamaa K, et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology. 2008;135(2):419-428.
32. Chen S, Wang W, Lee S, et al.; Colon Cancer Family Registry. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA. 2006;296(12):1479-1487.
33. Quehenberger F, Vasen HF, van Houwelingen HC. Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment. J Med Genet. 2005;42(6):491-496.
34. Bonadona V, Bona?i B, Olschwang S, et al.; French Cancer Genetics Network. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA. 2011;305(22):2304-2310.
35. Parry S, Win AK, Parry B, et al. Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery. Gut. 2011;60(7):950-957.
36. Obermair A, Youlden DR, Young JP, et al. Risk of endometrial cancer for women diagnosed with HNPCC-related colorectal carcinoma. Int J Cancer. 2010;127(11):2678-2684.
37. Aarnio M, Mecklin JP, Aaltonen LA, Nystr?-Lahti M, J?vinen HJ. Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer. 1995;64(6):430-433.
38. Newcomb PA, Baron J, Cotterchio M, et al.; Colon Cancer Family Registry. Colon Cancer Family Registry: an international resource for studies of the genetic epidemiology of colon cancer. Cancer Epidemiol Biomarkers Prev. 2007;16(11):2331-2343.
39. Fritz A, Percy C, Jack A, et al. International Classification of Diseases for Oncology (ICD-O). 3rd ed. Geneva, Switzerland: World Health Organization; 2000.
40. 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(27):6524-6532.
41. Smith L, Tesoriero A, Mead L, et al. Large genomic alterations in hMSH2 and hMLH1 in early-onset colorectal cancer: identification of a large complex de novo hMLH1 alteration. Clin Genet. 2006;70(3):250-252.
42. Parkin DM, Muir CS, Whelan SL, et al., eds. Cancer incidence in five continents, Vol VI. In: IARC Scientific Publications No. 120. Lyon, France: International Agency for Research on Cancer; 1992.
43. Parkin DM, Whelan SL, Ferlay J, et al. Cancer incidence in five continents, Vol VII. In: IARC Scientific Publications No. 143. Lyon, France: International Agency for Research on Cancer; 1997.
44. Parkin DM, Whelan SL, Ferlay J, et al. Cancer incidence in five continents, Vol VIII. In: IARC Scientific Publications No. 155. Lyon, France: International Agency for Research on Cancer; 2002.
45. Curado MP, Edwards B, Shin HR, et al. Cancer incidence in five continents, Vol IX. In: IARC Scientific Publications No. 160. Lyon, France: International Agency for Research on Cancer; 2007.
46. Breslow NE, Day NE. Statistical methods in cancer research. Vol II, In: Heseltine E, ed. The Design and Analysis of Cohort Studies. Scientific Publications No. 82. Lyon, France: International Agency for Research on Cancer; 1987.
47. StataCorp. Stata Statistical Software: Release 11. College Station, TX: StataCorp LP; 2009.
48. van der Post RS, Kiemeney LA, Ligtenberg MJ, et al. Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers. J Med Genet. 2010;47(7):464-470.
49. Myrh? T, Andersen MB, Bernstein I. Screening for urinary tract cancer with urine cytology in Lynch syndrome and familial colorectal cancer. Fam Cancer. 2008;7(4):303-307.
50. National Comprehensive Cancer Network. NCCN clinical practice guidelines. http://www.nccn.org/professionals/physician-gls/f-guidelines.asp. Last accessed October 24, 2010.
51. Rodriguez-Bigas MA, Vasen HF, Lynch HT, et al. Characteristics of small bowel carcinoma in hereditary nonpolyposis colorectal carcinoma. International Collaborative Group on HNPCC. Cancer. 1998;83(2):240-244.
52. Schulmann K, Brasch FE, Kunstmann E, et al.; German HNPCC Consortium. HNPCC-associated small bowel cancer: clinical and molecular characteristics. Gastroenterology. 2005;128(3):590-599.
53. Schulmann K, Engel C, Propping P, Schmiegel W. Small bowel cancer risk in Lynch syndrome. Gut. 2008;57(11):1629-1630.
54. Koornstra JJ, Kleibeuker JH, Vasen HF. Small-bowel cancer in Lynch syndrome: is it time for surveillance? Lancet Oncol. 2008;9(9):901-905.
55. Neugut AI, Jacobson JS, Suh S, Mukherjee R, Arber N. The epidemiology of cancer of the small bowel. Cancer Epidemiol Biomarkers Prev. 1998;7(3):243-251.
56. ten Kate GL, Kleibeuker JH, Nagengast FM, et al. Is surveillance of the small bowel indicated for Lynch syndrome families? Gut. 2007;56(9):1198-1201.
57. Buerki N, Gautier L, Kovac M, et al. Evidence for breast cancer as an integral part of Lynch syndrome. Genes Chromosomes Cancer. 2012;51(1):83-91.
58. 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(9):958-964.
59. Walsh MD, Buchanan DD, Cummings MC, et al. Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry. Clin Cancer Res. 2010;16(7):2214-2224.
60. Grindedal EM, M?ler P, Eeles R, et al. Germ-line mutations in mismatch repair genes associated with prostate cancer. Cancer Epidemiol Biomarkers Prev. 2009;18(9):2460-2467.
61. The Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst. 1999;91(15):1310-1316.
62. Kote-Jarai Z, Leongamornlert D, Saunders E, et al.; UKGPCS Collaborators. BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients. Br J Cancer. 2011;105(8):1230-1234.
63. Bauer CM, Ray AM, Halstead-Nussloch BA, et al. Hereditary prostate cancer as a feature of Lynch syndrome. Fam Cancer. 2011;10(1):37-42.
64. Risinger JI, Barrett JC, Watson P, Lynch HT, Boyd J. Molecular genetic evidence of the occurrence of breast cancer as an integral tumor in patients with the hereditary nonpolyposis colorectal carcinoma syndrome. Cancer. 1996;77(9):1836-1843.
65. Bergthorsson JT, Egilsson V, Gudmundsson J, Arason A, Ingvarsson S. Identification of a breast tumor with microsatellite instability in a potential carrier of the hereditary non-polyposis colon cancer trait. Clin Genet. 1995;47(6):305-310.
66. Soravia C, van der Klift H, Br?dler MA, et al. Prostate cancer is part of the hereditary non-polyposis colorectal cancer (HNPCC) tumor spectrum. Am J Med Genet A. 2003;121A(2):159-162.
67. den Bakker MA, Seynaeve C, Kliffen M, Dinjens WN. Microsatellite instability in a pleomorphic rhabdomyosarcoma in a patient with hereditary non-polyposis colorectal cancer. Histopathology. 2003;43(3):297-299.
68. Huang RL, Chao CF, Ding DC, et al. Multiple epithelial and nonepithelial tumors in hereditary nonpolyposis colorectal cancer: characterization of germline and somatic mutations of the MSH2 gene and heterogeneity of replication error phenotypes. Cancer Genet Cytogenet. 2004;153(2):108-114.
69. Medina Arana V, Barrios del Pino Y, Garc?-Castro C, Gonz?ez-Aguilera JJ, Fern?dez-Peralta A, Gonz?ez Hermoso F. Highly aggressive leiomyosarcoma associated with Lynch II syndrome: increasing the range of extracolonic cancers related with hereditary non-polyposis colonic cancer. Ann Oncol. 2002;13(5):807-808.
70. Miquel C, Sabourin JC, Elias D, et al. An appendix carcinoid tumor in a patient with hereditary nonpolyposis colorectal cancer. Hum Pathol. 2004;35(12):1564-1567.
71. Sijmons R, Hofstra R, Hollema H, et al. Inclusion of malignant fibrous histiocytoma in the tumour spectrum associated with hereditary non-polyposis colorectal cancer. Genes Chromosomes Cancer. 2000;29(4):353-355.