Familial Cancer

, Volume 12, Issue 2, pp 145–157 | Cite as

The History of Lynch Syndrome

Original Article

References

  1. 1.
    Warthin AS (1913) Heredity with reference to carcinoma as shown by the study of the cases examined in the Pathological Laboratory of the University of Michigan, 1895–1912. Arch Int Med 12:546–555CrossRefGoogle Scholar
  2. 2.
    Warthin AS (1925) The further study of a cancer family. J Cancer Res 9:279–286Google Scholar
  3. 3.
    Hauser IJ, Weller CV (1936) A further report on the cancer family of Warthin. Am J Cancer 27:434–449CrossRefGoogle Scholar
  4. 4.
    Bargen JA, Mayo CW, Giffin LA (1941) Familial trends in human cancer. J Heredity 32:7Google Scholar
  5. 5.
    Savage D (1956) A family history of uterine and gastro-intestinal cancer. Br Med J 2(4988):341–343PubMedCrossRefGoogle Scholar
  6. 6.
    Aure JC, Nilsson S (1964) Familial disposition of cancer of the gastrointestinal tract. Acta Chir Scand 129:644–648Google Scholar
  7. 7.
    Bieler VV, Heim U (1965) Double cancer in siblings. Familial association of cancer of the genitaliia and intestines. Schweiz Med Wochenschr 95:496–497PubMedGoogle Scholar
  8. 8.
    Glidzic V, Petrovic G (1968) Hereditary nature of cancers of the colon. Bull Cancer 55(4):511–516PubMedGoogle Scholar
  9. 9.
    Kartagener M, Wyler J (1966) Familial incidence of double malignancies. Schweiz Med Wochenschr 96(7):218–219PubMedGoogle Scholar
  10. 10.
    Kluge T (1964) Familial cancer of the colon. Acta Chir Scand 127:392–398PubMedGoogle Scholar
  11. 11.
    Heinzelmann F (1964) On a cancer family. A contribution to the problem of the hereditary aspects of colonic carcinoma. Helv Chir Acta 31:316–324PubMedGoogle Scholar
  12. 12.
    Lynch HT, Shaw MW, Magnuson CW, Larsen AL, Krush AJ (1966) Hereditary factors in cancer. Study of two large midwestern kindreds. Arch Intern Med 117(2):206–212PubMedCrossRefGoogle Scholar
  13. 13.
    Lynch HT, Krush AJ (1967) Heredity and adenocarcinoma of the colon. Gastroenterology 53(4):517–527PubMedGoogle Scholar
  14. 14.
    Lynch HT, Krush AJ, Larsen AL (1967) Heredity and multiple primary malignant neoplasms: six cancer families. Am J Med Sci 254(3):322–329PubMedCrossRefGoogle Scholar
  15. 15.
    Lynch HT, Krush AJ (1971) Cancer family “G” revisited: 1895–1970. Cancer 27(6):1505–1511PubMedCrossRefGoogle Scholar
  16. 16.
    Douglas JA, Gruber SB, Meister KA et al (2005) History and molecular genetics of Lynch syndrome in family G: a century later. JAMA 294(17):2195–2202PubMedCrossRefGoogle Scholar
  17. 17.
    Boland CR (1978) Cancer family syndrome. A case report and literature review. Am J Dig Dis 23(5):25s–27sCrossRefGoogle Scholar
  18. 18.
    Boland CR, Troncale FJ (1984) Familial colonic cancer without antecedent polyposis. Ann Intern Med 100(5):700–701PubMedCrossRefGoogle Scholar
  19. 19.
    Lynch HT, Riegert-Johnson DL, Snyder C et al (2011) Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion. Am J Gastroenterol 106(10):1829–1836PubMedCrossRefGoogle Scholar
  20. 20.
    Lynch HT, Kimberling W, Albano WA et al (1985) Hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II). I. Clinical description of resource. Cancer 56(4):934–938PubMedCrossRefGoogle Scholar
  21. 21.
    Lynch HT, Schuelke GS, Kimberling WJ et al (1985) Hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II). II. Biomarker studies. Cancer 56(4):939–951PubMedCrossRefGoogle Scholar
  22. 22.
    Boland CR (2005) Evolution of the nomenclature for the hereditary colorectal cancer syndromes. Fam Cancer 4(3):211–218PubMedCrossRefGoogle Scholar
  23. 23.
    Lynch HT, Cristofaro G, Rozen P et al (2003) History of the international collaborative group on hereditary non polyposis colorectal cancer. Fam Cancer 2(suppl 1):3–5PubMedCrossRefGoogle Scholar
  24. 24.
    Vasen HF, Mecklin JP, Khan PM, Lynch HT (1991) The international collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum 34(5):424–425PubMedCrossRefGoogle Scholar
  25. 25.
    Vasen HF, Watson P, Mecklin JP, Lynch HT (1999) New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the international collaborative group on HNPCC. Gastroenterology 116(6):1453–1456PubMedCrossRefGoogle Scholar
  26. 26.
    Marra G, Boland CR (1995) Hereditary nonpolyposis colorectal cancer: the syndrome, the genes, and historical perspectives. J Natl Cancer Inst 87(15):1114–1125PubMedCrossRefGoogle Scholar
  27. 27.
    Neale K, Bulow S (2003) Origins of the leeds castle polyposis group. Fam Cancer 2(suppl 1):1–2PubMedCrossRefGoogle Scholar
  28. 28.
    Peinado MA, Malkhosyan S, Velazquez A, Perucho M (1992) Isolation and characterization of allelic losses and gains in colorectal tumors by arbitrarily primed polymerase chain reaction. Proc Natl Acad Sci USA 89(21):10065–10069PubMedCrossRefGoogle Scholar
  29. 29.
    Ionov Y, Peinado MA, Malkhosyan S, Shibata D, Perucho M (1993) Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 363(6429):558–561PubMedCrossRefGoogle Scholar
  30. 30.
    Thibodeau SN, Bren G, Schaid D (1993) Microsatellite instability in cancer of the proximal colon. Science 260(5109):816–819PubMedCrossRefGoogle Scholar
  31. 31.
    Peltomaki P, Aaltonen LA, Sistonen P et al (1993) Genetic mapping of a locus predisposing to human colorectal cancer. Science 260(5109):810–812PubMedCrossRefGoogle Scholar
  32. 32.
    Aaltonen LA, Peltomaki P, Leach FS et al (1993) Clues to the pathogenesis of familial colorectal cancer. Science 260(5109):812–816PubMedCrossRefGoogle Scholar
  33. 33.
    Fishel R, Lescoe MK, Rao MR et al (1993) The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75(5):1027–1038PubMedCrossRefGoogle Scholar
  34. 34.
    Leach FS, Nicolaides NC, Papadopoulos N et al (1993) Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75(6):1215–1225PubMedCrossRefGoogle Scholar
  35. 35.
    Parsons R, Li GM, Longley MJ et al (1993) Hypermutability and mismatch repair deficiency in RER + tumor cells. Cell 75(6):1227–1236PubMedCrossRefGoogle Scholar
  36. 36.
    Lindblom A, Tannergard P, Werelius B, Nordenskjold M (1993) Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer. Nat Genet 5(3):279–282PubMedCrossRefGoogle Scholar
  37. 37.
    Bronner CE, Baker SM, Morrison PT et al (1994) Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 368(6468):258–261PubMedCrossRefGoogle Scholar
  38. 38.
    Papadopoulos N, Nicolaides NC, Wei YF et al (1994) Mutation of a mutL homolog in hereditary colon cancer. Science 263(5153):1625–1629PubMedCrossRefGoogle Scholar
  39. 39.
    Nicolaides NC, Papadopoulos N, Liu B et al (1994) Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 371(6492):75–80PubMedCrossRefGoogle Scholar
  40. 40.
    Palombo F, Gallinari P, Iaccarino I et al (1995) GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells. Science 268(5219):1912–1914PubMedCrossRefGoogle Scholar
  41. 41.
    Papadopoulos N, Nicolaides NC, Liu B et al (1995) Mutations of GTBP in genetically unstable cells. Science 268(5219):1915–1917PubMedCrossRefGoogle Scholar
  42. 42.
    Miyaki M, Konishi M, Tanaka K et al (1997) Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet 17(3):271–272PubMedCrossRefGoogle Scholar
  43. 43.
    Boland CR, Thibodeau SN, Hamilton SR et al (1998) 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 58(22):5248–5257PubMedGoogle Scholar
  44. 44.
    Umar A, Boland CR, Terdiman JP et al (2004) Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96(4):261–268PubMedCrossRefGoogle Scholar
  45. 45.
    Lindor NM, Rabe K, Petersen GM et al (2005) Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA 293(16):1979–1985PubMedCrossRefGoogle Scholar
  46. 46.
    Boland CR, Shike M (2010) Report from the Jerusalem workshop on Lynch syndrome-hereditary nonpolyposis colorectal cancer. Gastroenterology 138(7):2197PubMedCrossRefGoogle Scholar
  47. 47.
    Goel A, Xicola RM, Nguyen TP et al (2010) Aberrant DNA methylation in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency. Gastroenterology 138(5):1854–1862PubMedCrossRefGoogle Scholar
  48. 48.
    Palomaki GE, McClain MR, Melillo S, Hampel HL, Thibodeau SN (2009) EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med 11(1):42–65PubMedCrossRefGoogle Scholar
  49. 49.
    Wijnen J, van der Klift H, Vasen H et al (1998) MSH2 genomic deletions are a frequent cause of HNPCC. Nat Genet 20(4):326–328PubMedCrossRefGoogle Scholar
  50. 50.
    Yan H, Papadopoulos N, Marra G et al (2000) Conversion of diploidy to haploidy. Nature 403(6771):723–724PubMedCrossRefGoogle Scholar
  51. 51.
    Ligtenberg MJ, Kuiper RP, Chan TL et al (2009) Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3’ exons of TACSTD1. Nat Genet 41(1):112–117PubMedCrossRefGoogle Scholar
  52. 52.
    Koi M, Umar A, Chauhan DP et al (1994) Human chromosome 3 corrects mismatch repair deficiency and microsatellite instability and reduces N-methyl-N’-nitro-N-nitrosoguanidine tolerance in colon tumor cells with homozygous hMLH1 mutation. Cancer Res 54(16):4308–4312PubMedGoogle Scholar
  53. 53.
    Hawn MT, Umar A, Carethers JM et al (1995) Evidence for a connection between the mismatch repair system and the G2 cell cycle checkpoint. Cancer Res 55(17):3721–3725PubMedGoogle Scholar
  54. 54.
    Carethers JM, Hawn MT, Chauhan DP et al (1996) Competency in mismatch repair prohibits clonal expansion of cancer cells treated with N-methyl-N’-nitro-N-nitrosoguanidine. J Clin Invest 98(1):199–206PubMedCrossRefGoogle Scholar
  55. 55.
    Carethers JM, Chauhan DP, Fink D et al (1999) Mismatch repair proficiency and in vitro response to 5-fluorouracil. Gastroenterology 117(1):123–131PubMedCrossRefGoogle Scholar
  56. 56.
    Aebi S, Kurdi-Haidar B, Gordon R et al (1996) Loss of DNA mismatch repair in acquired resistance to cisplatin. Cancer Res 56(13):3087–3090PubMedGoogle Scholar
  57. 57.
    Fink D, Nebel S, Aebi S et al (1996) The role of DNA mismatch repair in platinum drug resistance. Cancer Res 56(21):4881–4886PubMedGoogle Scholar
  58. 58.
    Arnold CN, Goel A, Boland CR (2003) Role of hMLH1 promoter hypermethylation in drug resistance to 5-fluorouracil in colorectal cancer cell lines. Int J Cancer 106(1):66–73PubMedCrossRefGoogle Scholar
  59. 59.
    Elsaleh H, Joseph D, Grieu F, Zeps N, Spry N, Iacopetta B (2000) Association of tumour site and sex with survival benefit from adjuvant chemotherapy in colorectal cancer. Lancet 355(9217):1745–1750PubMedCrossRefGoogle Scholar
  60. 60.
    Boland CR, Goel A (2010) Microsatellite instability in colorectal cancer. Gastroenterology 138(6):2073–2087PubMedCrossRefGoogle Scholar
  61. 61.
    Ribic CM, Sargent DJ, Moore MJ et al (2003) Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N Engl J Med 349(3):247–257PubMedCrossRefGoogle Scholar
  62. 62.
    Galon J, Costes A, Sanchez-Cabo F et al (2006) Type, density, and location of immune cells within human colorectal tumors predict clinical outcome. Science 313(5795):1960–1964PubMedCrossRefGoogle Scholar
  63. 63.
    Fridman WH, Pages F, Sautes-Fridman C, Galon J (2012) The immune contexture in human tumours: impact on clinical outcome. Nat Rev Cancer 12(4):298–306PubMedCrossRefGoogle Scholar
  64. 64.
    Burn J, Bishop DT, Mecklin JP et al (2008) Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome. N Engl J Med 359(24):2567–2578PubMedCrossRefGoogle Scholar
  65. 65.
    Burn J, Gerdes AM, Macrae F et al (2011) Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet 378(9809):2081–2087PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media Dordrecht 2013

Authors and Affiliations

  1. 1.GI Cancer Research Laboratory (250 Hoblitzelle)Baylor University Medical CenterDallasUSA
  2. 2.Department of Preventive MedicineCreighton UniversityOmahaUSA

Personalised recommendations