Recognition of genetic syndromes in families with suspected hereditary colon cancer syndromes

Clinical Gastroenterology and Hepatology

Volumn 2, Issue 5, 2004, Pages 366-375

  Lindor, Noralane M ^a  

^a MAYO CLINIC   (United States)

Author keywords

gastrointestinal; GI; hereditary nonpolyposis colon cancer; HNPCC; IHC; immunohistochemistry; microsatellite instability; MSI

Indexed keywords

ADENOMATOUS POLYP; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 15; COLON CANCER; FAMILIAL CANCER; FAMILY HISTORY; FAMILY STUDY; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC RISK; HISTOPATHOLOGY; HUMAN; HUMAN GENOME; JUVENILE POLYP; MICROSATELLITE INSTABILITY; REVIEW; RISK ASSESSMENT; SYNDROME; TUMOR CLASSIFICATION;

EID: 2342429912     PISSN: 15423565     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1542-3565(04)00120-X     Document Type: Review

References (76)

1. Marcello PW, Asbun HJ, Veidenheimer MC, Rossi RL, Roberts PL, Fine SN, Coller JA, Murray JJ, Schoetz DJ Jr. Gastroduodenal polyps in familial adenomatous polyposis. Surg Endosc 1996;10:418-421.
2. Burke W, Daly M, Garber J, Botkin J, Kahn MJ, Lynch P, McTiernan A, Offit K, Perlman J, Petersen G, Thomson E, Varricchio C. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium. JAMA 1997;277:997-1003.
3. Burke W, Petersen G, Lynch P, Botkin J, Daly M, Garber J, Kahn MJ, McTiernan A, Offit K, Thomson E, Varricchio C. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. I. Hereditary nonpolyposis colon cancer. Cancer Genetics Studies Consortium. JAMA 1997;277:915-919.
4. Winawer SJ, Fletcher RH, Miller L, Godlee F, Stolar MH, Mulrow CD, Woolf SH, Glick SN, Ganiats TG, Bond JH, Rosen L, Zapka JG, Olsen SJ, Giardiello FM, Sisk JE, Van Antwerp R, Brown-Davis C, Marciniak DA, Mayer RJ. Colorectal cancer screening: clinical guidelines and rationale. Gastroenterology 1997;112:594-642.
5. Lindor NM, Greene MH. The concise handbook of family cancer syndromes: Mayo Familial Cancer Program. J Natl Cancer Inst 1998;90:1039-1071.
6. Giardiello FM, Brensinger JD, Tersmette AC, Goodman SN, Petersen GM, Booker SV, Cruz-Correa M, Offerhaus JA. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology 2000;119:1447-1453.
7. Wirtzfeld DA, Petrelli NJ, Rodriguez-Bigas MA. Hamartomatous polyposis syndromes: molecular genetics, neoplastic risk, and surveillance recommendations. Ann Surg Oncol 2001;8:319-327.
8. Boardman LA. Heritable colorectal cancer syndromes: recognition and preventive management. Gastroenterol Clin North Am 2002;31:1107-1131.
9. Landis SH, Murray T, Bolden S, Wingo PA. Cancer statistics, 1999. CA Cancer J Clin 1999;49:8-31.
10. Smith RA, Cokkinides V, von Eschenbach AC, Levin B, Cohen C, Runowicz CD, Sener S, Saslow D, Eyre HJ. American Cancer Society guidelines for the early detection of cancer. CA Cancer J Clin 2002;52:8-22.
11. Lynch HT, de la Chapelle A. Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet 1999;36:801-818.
12. Thibodeau SN, Bren G, Schaid D. Microsatellite instability in cancer of the proximal colon. Science 1993;260:816-819.
13. Ionov Y, Peinada MA, Malkhosyan S, Shibata D, Perucho M. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 1993;363:558-561.
14. Rodriguez-Bigas M, Boland CR, Hamilton SR, Hensen DE, Jass JR, Khan P, Lynch H, Perucho M, Smyrk T, Sobin L, Srivastava S. A National Cancer Institute Workshop on Hereditary Non Polyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 1997;89:1758-1762.
15. Boland CR, Thibodeau SN, Hamilton SR. A National Cancer Institute Workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998;58:5248-5257.
16. Kakar S, Burgart LJ, Thibodeau SN, Rabe KG, Petersen GM, Goldberg RM, Lindor NM. Frequency of loss of hMLH1 expression in colorectal carcinoma increases with advancing age. Cancer 2003;97:1421-1427.
17. Lindor NM, Burgart LJ, Leontovich O, Goldberg RM, Cunningham JM, Sargent DJ, Walsh-Vockley C, Petersen GM, Walsh MD, Leggett BA, Young JP, Barker MA, Jass JR, Hopper J, Gallinger S, Bapat B, Redston M, Thibodeau SN. Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol 2002;20:1043-1048.
18. King JE, Dozois RR, Lindor NM, Ahlquist DA. Care of patients and their families with familial adenomatous polyposis. Mayo Clin Proc 2000;75:57-67.
19. Spirio L, Olschwang S, Groden J, Robertson M, Samowitz W, Joslyn G, Gelbert L, Thliveris A, Carlson M, Otterud B, Lynch H, Watson P, Lynch P, Laurent-Puig P, Burt R, Hughes JP, Thomas G, Leppert M, White R. Alleles of the APC gene: an attenuated form of familial polyposis. Cell 1993;75:951-957.
20. Giardiello FM, Brensinger JD, Petersen GM, Luce MC, Hylind LM, Bacon JA, Booker SV, Parker RD, Hamilton SR. The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. N Engl J Med 1997;336:823-827.
21. Laken SJ, Petersen GM, Gruber SB, Oddoux C, Ostrer H, Giardiello FM, Hamilton SR, Hampel H, Markowitz A, Klimstra D, Jhanwar S, Winawer S, Offit K, Luce MC, Kinzler KW, Vogelstein B. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet 1997;17:79-83.
22. Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RK, Bisgaard ML, Orntoft TF, Aaltonen LA, Hodgson SV, Thomas HJ, Tomlinson IP. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 2003;348:791-799.
23. Nelen MR, van Staveren WC, Peeters EA, Hassel MB, Gorlin RJ, Hamm H, Lindboe CF, Fryns JP, Sijmons RH, Woods DG, Mariman EC, Padberg GW, Kremer H. Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet 1997;6:1383-1387.
24. Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet 2000;37:828-830.
25. Foley TR, McGarrity TJ, Abt AB. Peutz-Jeghers syndrome: a clinicopathologic survey of the "Harrisburg family" with a 49-year follow-up. Gastroenterology 1988;95:1535-1540.
26. Tomlinson IP, Houlston RS. Peutz-Jeghers syndrome. J Med Genet 1997;34:1007-1011.
27. Giardiello FM, Welsh SB, Hamilton SR, Offerhaus GJ, Gittelsohn AM, Booker SV, Krush AJ, Yardley JH, Luk GD. Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med 1987;316:1511-1514.
28. Jaeger EE, Woodford-Richens KL, Lockett M, Rowan AJ, Sawyer EJ, Heinimann K, Rozen P, Murday VA, Whitelaw SC, Ginsberg A, Atkin WS, Lynch HT, Southey MC, Debinski H, Eng C, Bodmer WF, Talbot IC, Hodgson SV, Thomas HJ, Tomlinson IP. An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome. Am J Hum Genet 2003;72:1261-1267.
29. Jass JR, Williams CB, Bussey HJ, Morson BC. Juvenile polyposis: a precancerous condition. Histopathology 1988;13:619-630.
30. Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE. Risks of cancer in BRCA1-mutation carriers: Breast Cancer Linkage Consortium. Lancet 1994;343:692-695.
31. The Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers: the Breast Cancer Linkage Consortium. J Natl Cancer Inst 1999;91:1310-1316.
32. Meijers-Heijboer H, Wijnen J, Vasen H, Wasielewski M, Wagner A, Hollestelle A, Elstrodt F, van den Bos R, de Snoo A, Fat GT, Brekelmans C, Jagmohan S, Franken P, Verkuijlen P, van den Ouweland A, Chapman P, Tops C, Moslein G, Burn J, Lynch H, Klijn J, Fodde R, Schutte M. The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. Am J Med Genet 2003;72:1308-1314.
33. Couch FJ, DeShano ML, Blackwood MA, Calzone K, Stopfer J, Campeau L, Ganguly A, Rebbeck T, Weber BL. BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N Engl J Med 1997;336:1409-1415.
34. Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, Gumpper KL, Scholl T, Tavtigian SV, Pruss DR, Critchfield GC. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol 2002;20:1480-1490.
35. Wijnen JT, Vasen HF, Khan PM, Zwinderman AH, van der Klift H, Mulder A, Tops C, Moller P, Fodde R. Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. N Engl J Med 1998;339:511-518.0
36. Aarnio M, Sankila R, Pukkala E, Salovaara R, Aaltonen LA, de la Chapelle A, Peltomaki P, Mecklin JP, Jarvinen HJ. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 1999;81:214-218.
37. Aarnio M, Mecklin JP, Aaltonen LA, Nystrom-Lahti M, Jarvinen HJ. Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer 1995;64:430-433.
38. Bussey HJ. Familial polyposis coli: family studies, histopathology, differential diagnosis and results of treatment. Baltimore: The Johns Hopkins University Press, 1975.
39. Kadmon M, Tandara A, Herfarth C. Duodenal adenomatosis in familial adenomatous polyposis coli: a review of the literature and results from the Heidelberg Polyposis Register. Int J Colorectal Dis 2001;16:63-75.
40. Giardiello FM, Offerhaus GJ, Krush AJ, Booker SV, Tersmette AC, Mulder JW, Kelley CN, Hamilton SR. Risk of hepatoblastoma in familial adenomatous polyposis. J Pediatr 1991;119:766-768.
41. Hughes LJ, Michels VV. Risk of hepatoblastoma in familial adenomatous polyposis. Am J Med Genet 1992;43:1023-1025.
42. Offerhaus GJ, Entius MM, Giardiello FM. Upper gastrointestinal polyps in familial adenomatous polyposis. Hepatogastroenterology 1999;46:667-669.
43. Park JG, Park KJ, Ahn YO, Song IS, Choi KW, Moon HY, Choo SY, Kim JP. Risk of gastric cancer among Korean familial adenomatous polyposis patients: report of three cases. Dis Colon Rectum 1992;35:996-998.
44. Hamilton SR, Liu B, Parsons RE, Papadopoulos N, Jen J, Powell SM, Krush AJ, Berk T, Cohen Z, Tetu B, Burger PC, Wood PA, Taqi F, Booker SV, Petersen GM, Offerhaus GJA, Tersmette AC, Giardiello FM, Vogelstein B, Kinzler KW. The molecular basis of Turcot's syndrome. N Engl J Med 1995;332:839-847.
45. Cetta F, Montalto G, Gori M, Curia MC, Cama A, Olschwang S. Germline mutations of the APC gene in patients with familial adenomatous polyposis-associated thyroid carcinoma: results from a European cooperative study. J Clin Endocrinol Metab 2000;85:286-292.
46. Bulow S, Alm T, Fausa O, Hultcrantz R, Jarvinen H, Vasen H. Duodenal adenomatosis in familial adenomatous polyposis: DAF Project Group. Int J Colorectal Dis 1995;10:43-46.
47. Wallace MH, Phillips RK. Upper gastrointestinal disease in patients with familial adenomatous polyposis. Br J Surg 1998;85:742-750.
48. Gurbaz AK, Giardiello FM, Petersen GM, Krush AJ, Offerhaus GJ, Booker SV, Kerr MC, Hamilton SR. Desmoid tumours in familial adenomatous polyposis. Gut 1994;35:377-381.
49. Brett MCA, Hershman MJ, Glazer G. Other manifestations of familial adenomatous polyposis. In: Phillips FSK, Spigelman A, Thomason JPS, eds. Familial adenomatous polyposis and other polyposis syndromes. London: Edward Arnold, 1994:146.
50. Smith TG, Clark SK, Katz DE, Reznek RH, Phillips RK. Adrenal masses are associated with familial adenomatous polyposis. Dis Colon Rectum 2000;43:1739-1742.
51. Petersen GM, Slack J, Nakamura Y. Screening guidelines and premorbid diagnosis of familial adenomatous polyposis using linkage. Gastroenterology 1991;100:1658-1664.
52. Burn J, Chapman P, Delhanty J, Wood C, Lalloo F, Cachon-Gonzalez MB, Tsioupra K, Church W, Rhodes M, Gunn A. The UK Northern region genetic register for familial adenomatous polyposis coli: use of age of onset, congenital hypertrophy of the retinal pigment epithelium, and DNA markers in risk calculations. J Med Genet 1991;28:289-296.
53. Eng C. Cowden syndrome. J Genet Counsel 1997;6:181.
54. Brownstein MH, Wolf M, Bikowski JB. Cowden's disease: a cutaneous marker of breast cancer. Cancer 1978;41:2393-2398.
55. Starink TM, van der Veen JP, Arwert F, de Waal LP, de Lange GG, Gille JJ, Eriksson AW. The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet 1986;29:222-233.
56. Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PLM, Zheng Z, Liaw D, Caron S, Duboue B, Lin AY, Richardson A-L, Bonnetblanc J-M, Bressieux J-M, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker J-P, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, LePrat F, Odent S, Toulouse C, Olopade OI, Sobol H, Tishler, Woods CG, Robinson BG, Weber HC, Parsons R, Peacocke M, Longy M, Eng C. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 1998;7:507-515.
57. Boardman LA, Thibodeau SN, Schaid DJ, Lindor NM, McDonnell SK, Burgart LJ, Ahlquist DA, Podratz KC, Pittelkow M, Hartmann LC. Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med 1998;128:896-899.
58. Bartholomew LG, Dahlin DC, Waugh JM. Intestinal polyposis associated with mucocutaneous melanin pigmentation (Peutz-Jeghers syndrome): review of the literature and report of six cases with specific reference to pathologic findings. Gastroenterology 1957;32:434-451.
59. Bartholomew LG, Moore CE, Dahlin DC, Waugh JM. Intestinal polyposis with mucocutaneous pigmentation. Surg Gynecol Obstet 1962;115:1-11.
60. Young RH, Welch WR, Dickersin GR, Scully RE. Ovarian sex cord tumor with annular tubules: review of 74 cases including 27 with Peutz-Jeghers syndrome and four with adenoma malignum of the cervix. Cancer 1982;50:1384-1402.
61. Young S, Gooneratne S, Straus FH 2nd, Zeller WP, Bulun SE, Rosenthal IM. Feminizing Sertoli cell tumors in boys with Peutz-Jeghers syndrome. Am J Surg Pathol 1995;19:50-58.
62. Howe JR, Roth S, Ringold JC, Summers RW, Jarvinen HJ, Sistonen P, Tomlinson IP, Houlston RS, Bevan S, Mitros FA, Stone EM, Aaltonen LA. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science 1998;280:1086-1088.
63. Sharma AK, Sharma SS, Mathur P. Familial juvenile polyposis with adenomatous-carcinomatous change. J Gastroenterol Hepatol 1995;10:131-134.
64. Easton DF, Steele L, Fields P, Ormiston W, Averill D, Daly PA, McManus R, Neuhausen SL, Ford D, Wooster R, Cannon-Albright LA, Stratton MR, Goldgar DE. Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13. Am J Hum Genet 1997;61:120-128.
65. Bell DW, Varley JM, Szydlo TE, Kang DH, Wahrer DC, Shannon KE, Lubratovich M, Verselis SJ, Isselbacher KJ, Fraumeni JF, Birch JM, Li FP, Garber JE, Haber DA. Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science 1999;286:2528-2531.
66. Lee SB, Kim SH, Bell DW, Wahrer DC, Schiripo TA, Jorczak MM, Sgroi DC, Garber JE, Li FP, Nichols KE, Varley JM, Godwin AK, Shannon KM, Harlow E, Haber DA. Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. Cancer Res 2001;61:8062-8067.
67. Vasen HFA, Meckin JP, Meera Kahn P, Lynch H. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 1991;34:424-425.
68. Vasen HFA, Watson P, Mecklin J-P, Lynch HT, ICG-HNPCC. New clinical criterial for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology 1999;116:1453-1456.
69. Nelen MR, Kremer H, Konings IB, Schoute F, van Essen AJ, Koch R, Woods CG, Fryns JP, Hamel B, Hoefsloot LH, Peeters EA, Padberg GW. Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. Eur J Hum Genet 1999;7:267-273.
70. Hemminki A. The molecular basis and clinical aspects of Peutz-Jeghers syndrome. Cell Mol Life Sci 1999;55:735-750.
71. Mallory SB, Stough DB. Genodermatoses with malignant potential. Dermatol Clin 1987;5:221-230.
72. Boardman LA, Couch FJ, Burgart LJ, Schwartz D, Berry R, McDonnell SK, Schaid DJ, Hartmann LC, Schroeder JJ, Stratakis CA, Thibodeau SN. Genetic heterogeneity in Peutz-Jeghers syndrome. Hum Mutat 2000;16:23-30.
73. Chevrel JP, Amouroux J, Gueraud JP. [3 cases of familial juvenile polyposis]. Chirurgie 1975;101:708-721.
74. Burt RW, Bishop DT, Lynch HT, Rozen P, Winawer SJ. Risk and surveillance of individuals with heritable factors for colorectal cancer: WHO Collaborating Centre for the Prevention of Colorectal Cancer. Bull World Health Organ 1990;68:655-665.
75. Zhou XP, Woodford-Richens K, Lehtonen R, Kurose K, Aldred M, Hampel H, Launonen V, Virta S, Pilarski R, Salovaara R, Bodmer WF, Conrad BA, Dunlop M, Hodgson SV, Iwama T, Jarvinen H, Kellokumpu I, Kim JC, Leggett B, Markie D, Mecklin JP, Neale K, Phillips R, Piris J, Rozen P, Houlston RS, Aaltonen LA, Tomlinson IP, Eng C. Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. Am J Hum Genet 2001;69:704-711.
76. Szabo CI, King MC. Population genetics of BRCA1 and BRCA2. Am J Hum Genet 1997;60:1013-1020.