Skip to main content
Log in

The History of Lynch Syndrome

  • Original Article
  • Published:
Familial Cancer Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5
Fig. 6
Fig. 7
Fig. 8

References

  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 12:546–555

    Article  Google Scholar 

  2. Warthin AS (1925) The further study of a cancer family. J Cancer Res 9:279–286

    Google Scholar 

  3. Hauser IJ, Weller CV (1936) A further report on the cancer family of Warthin. Am J Cancer 27:434–449

    Article  Google Scholar 

  4. Bargen JA, Mayo CW, Giffin LA (1941) Familial trends in human cancer. J Heredity 32:7

    Google Scholar 

  5. Savage D (1956) A family history of uterine and gastro-intestinal cancer. Br Med J 2(4988):341–343

    Article  PubMed  CAS  Google Scholar 

  6. Aure JC, Nilsson S (1964) Familial disposition of cancer of the gastrointestinal tract. Acta Chir Scand 129:644–648

    Google Scholar 

  7. Bieler VV, Heim U (1965) Double cancer in siblings. Familial association of cancer of the genitaliia and intestines. Schweiz Med Wochenschr 95:496–497

    PubMed  CAS  Google Scholar 

  8. Glidzic V, Petrovic G (1968) Hereditary nature of cancers of the colon. Bull Cancer 55(4):511–516

    PubMed  CAS  Google Scholar 

  9. Kartagener M, Wyler J (1966) Familial incidence of double malignancies. Schweiz Med Wochenschr 96(7):218–219

    PubMed  CAS  Google Scholar 

  10. Kluge T (1964) Familial cancer of the colon. Acta Chir Scand 127:392–398

    PubMed  CAS  Google Scholar 

  11. Heinzelmann F (1964) On a cancer family. A contribution to the problem of the hereditary aspects of colonic carcinoma. Helv Chir Acta 31:316–324

    PubMed  CAS  Google Scholar 

  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):206–212

    Article  PubMed  CAS  Google Scholar 

  13. Lynch HT, Krush AJ (1967) Heredity and adenocarcinoma of the colon. Gastroenterology 53(4):517–527

    PubMed  CAS  Google Scholar 

  14. Lynch HT, Krush AJ, Larsen AL (1967) Heredity and multiple primary malignant neoplasms: six cancer families. Am J Med Sci 254(3):322–329

    Article  PubMed  CAS  Google Scholar 

  15. Lynch HT, Krush AJ (1971) Cancer family “G” revisited: 1895–1970. Cancer 27(6):1505–1511

    Article  PubMed  CAS  Google Scholar 

  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):2195–2202

    Article  PubMed  CAS  Google Scholar 

  17. Boland CR (1978) Cancer family syndrome. A case report and literature review. Am J Dig Dis 23(5):25s–27s

    Article  Google Scholar 

  18. Boland CR, Troncale FJ (1984) Familial colonic cancer without antecedent polyposis. Ann Intern Med 100(5):700–701

    Article  PubMed  CAS  Google Scholar 

  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):1829–1836

    Article  PubMed  CAS  Google Scholar 

  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):934–938

    Article  PubMed  CAS  Google Scholar 

  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):939–951

    Article  PubMed  CAS  Google Scholar 

  22. Boland CR (2005) Evolution of the nomenclature for the hereditary colorectal cancer syndromes. Fam Cancer 4(3):211–218

    Article  PubMed  Google Scholar 

  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):3–5

    Article  PubMed  Google Scholar 

  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):424–425

    Article  PubMed  CAS  Google Scholar 

  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):1453–1456

    Article  PubMed  CAS  Google Scholar 

  26. Marra G, Boland CR (1995) Hereditary nonpolyposis colorectal cancer: the syndrome, the genes, and historical perspectives. J Natl Cancer Inst 87(15):1114–1125

    Article  PubMed  CAS  Google Scholar 

  27. Neale K, Bulow S (2003) Origins of the leeds castle polyposis group. Fam Cancer 2(suppl 1):1–2

    Article  PubMed  Google Scholar 

  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):10065–10069

    Article  PubMed  CAS  Google Scholar 

  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):558–561

    Article  PubMed  CAS  Google Scholar 

  30. Thibodeau SN, Bren G, Schaid D (1993) Microsatellite instability in cancer of the proximal colon. Science 260(5109):816–819

    Article  PubMed  CAS  Google Scholar 

  31. Peltomaki P, Aaltonen LA, Sistonen P et al (1993) Genetic mapping of a locus predisposing to human colorectal cancer. Science 260(5109):810–812

    Article  PubMed  CAS  Google Scholar 

  32. Aaltonen LA, Peltomaki P, Leach FS et al (1993) Clues to the pathogenesis of familial colorectal cancer. Science 260(5109):812–816

    Article  PubMed  CAS  Google Scholar 

  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):1027–1038

    Article  PubMed  CAS  Google Scholar 

  34. Leach FS, Nicolaides NC, Papadopoulos N et al (1993) Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75(6):1215–1225

    Article  PubMed  CAS  Google Scholar 

  35. Parsons R, Li GM, Longley MJ et al (1993) Hypermutability and mismatch repair deficiency in RER + tumor cells. Cell 75(6):1227–1236

    Article  PubMed  CAS  Google Scholar 

  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):279–282

    Article  PubMed  CAS  Google Scholar 

  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):258–261

    Article  PubMed  CAS  Google Scholar 

  38. Papadopoulos N, Nicolaides NC, Wei YF et al (1994) Mutation of a mutL homolog in hereditary colon cancer. Science 263(5153):1625–1629

    Article  PubMed  CAS  Google Scholar 

  39. Nicolaides NC, Papadopoulos N, Liu B et al (1994) Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 371(6492):75–80

    Article  PubMed  CAS  Google Scholar 

  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):1912–1914

    Article  PubMed  CAS  Google Scholar 

  41. Papadopoulos N, Nicolaides NC, Liu B et al (1995) Mutations of GTBP in genetically unstable cells. Science 268(5219):1915–1917

    Article  PubMed  CAS  Google Scholar 

  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):271–272

    Article  PubMed  CAS  Google Scholar 

  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):5248–5257

    PubMed  CAS  Google Scholar 

  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):261–268

    Article  PubMed  CAS  Google Scholar 

  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):1979–1985

    Article  PubMed  CAS  Google Scholar 

  46. Boland CR, Shike M (2010) Report from the Jerusalem workshop on Lynch syndrome-hereditary nonpolyposis colorectal cancer. Gastroenterology 138(7):2197

    Article  PubMed  Google Scholar 

  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):1854–1862

    Article  PubMed  CAS  Google Scholar 

  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):42–65

    Article  PubMed  Google Scholar 

  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):326–328

    Article  PubMed  CAS  Google Scholar 

  50. Yan H, Papadopoulos N, Marra G et al (2000) Conversion of diploidy to haploidy. Nature 403(6771):723–724

    Article  PubMed  CAS  Google Scholar 

  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):112–117

    Article  PubMed  CAS  Google Scholar 

  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):4308–4312

    PubMed  CAS  Google Scholar 

  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):3721–3725

    PubMed  CAS  Google Scholar 

  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):199–206

    Article  PubMed  CAS  Google Scholar 

  55. Carethers JM, Chauhan DP, Fink D et al (1999) Mismatch repair proficiency and in vitro response to 5-fluorouracil. Gastroenterology 117(1):123–131

    Article  PubMed  CAS  Google Scholar 

  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):3087–3090

    PubMed  CAS  Google Scholar 

  57. Fink D, Nebel S, Aebi S et al (1996) The role of DNA mismatch repair in platinum drug resistance. Cancer Res 56(21):4881–4886

    PubMed  CAS  Google Scholar 

  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):66–73

    Article  PubMed  CAS  Google Scholar 

  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):1745–1750

    Article  PubMed  CAS  Google Scholar 

  60. Boland CR, Goel A (2010) Microsatellite instability in colorectal cancer. Gastroenterology 138(6):2073–2087

    Article  PubMed  CAS  Google Scholar 

  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):247–257

    Article  PubMed  CAS  Google Scholar 

  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):1960–1964

    Article  PubMed  CAS  Google Scholar 

  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):298–306

    Article  PubMed  CAS  Google Scholar 

  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):2567–2578

    Article  PubMed  CAS  Google Scholar 

  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):2081–2087

    Article  PubMed  Google Scholar 

Download references

Acknowledgments

Supported by a grant from the NIH/NCI, R01 CA72851-17.

Conflict of interest

The authors have no conflicts of interest to report.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to C. Richard Boland.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Boland, C.R., Lynch, H.T. The History of Lynch Syndrome. Familial Cancer 12, 145–157 (2013). https://doi.org/10.1007/s10689-013-9637-8

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10689-013-9637-8

Keywords

Navigation