Abstract
The hereditary forms of colorectal cancer have been given many names historically as the manifestations have been gradually understood. Lynch syndrome has had several names, most prominently ‘Hereditary Nonpolyposis Colorectal Cancer’ or HNPCC. Clarification of the genetic basis and full phenotypic expression of this disease mandates a more clinically useful name that clarifies the consideration of non-colonic cancers in a family history, and unifies the diagnosis around the germline mutation in a DNA mismatch repair (MMR) gene. The term ‘Lynch syndrome’ is proposed for the autosomal dominant disease caused by a germline mutation in a DNA MMR gene.
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References
HJ Bussey (1975) Familial Polyposis coli. Family Studies, Histopathology, Differential Diagnosis, and Results of Treatment The Johns Hopkins University Press Baltimore, MD 1–104
SR Hamilton B Liu RE Parsons et al. (1995) ArticleTitleThe molecular basis of Turcot’s syndrome. N. Engl J Med 332 839–47 Occurrence Handle10.1056/NEJM199503303321302 Occurrence Handle7661930
L Herrera S Kakati L Gibas et al. (1986) ArticleTitleGardner syndrome in a man with an interstitial deletion of 5q. Am J Med Genet 25 473–6 Occurrence Handle10.1002/ajmg.1320250309 Occurrence Handle3789010
WF Bodmer CJ Bailey J Bodmer et al. (1987) ArticleTitleLocalization of the gene for familial adenomatous polyposis on chromosome 5. Nature 328 614–6 Occurrence Handle10.1038/328614a0 Occurrence Handle3039373
E Solomon R Voss V Hall et al. (1987) ArticleTitleChromosome 5 allele loss in human colorectal carcinomas. Nature 328 616–9 Occurrence Handle10.1038/328616a0 Occurrence Handle2886919
KW Kinzler MC Nilbert LK Su et al. (1991) ArticleTitleIdentification of FAP locus genes from chromosome 5q21. Science 253 661–65 Occurrence Handle1651562
J Groden A Thliveris W Samowitz et al. (1991) ArticleTitleIdentification and characterization of the familial adenomatous polyposis coli gene. Cell 66 589–600 Occurrence Handle10.1016/0092-8674(81)90021-0 Occurrence Handle1651174
G Joslyn M Carlson A Thliveris et al. (1991) ArticleTitleIdentification of deletion mutations and three new genes at the familial polyposis locus. Cell 66 601–13 Occurrence Handle10.1016/0092-8674(81)90022-2 Occurrence Handle1678319
SM Powell GM Petersen AJ Krush et al. (1993) ArticleTitleMolecular diagnosis of familial adenomatous polyposis. N Engl J Med 329 1982–7 Occurrence Handle10.1056/NEJM199312303292702 Occurrence Handle8247073
M Leppert R Burt JP Hughes et al. (1990) ArticleTitleGenetic analysis of an inherited predisposition to colon cancer in a family with a variable number of adenomatous polyps. N Engl J Med 322 904–8 Occurrence Handle2156161
AL Knudsen ML Bisgaard S Bulow (2003) ArticleTitleAttenuated familial adenomatous polyposis (AFAP). A review of the literature. Fam Cancer 2 43–55
RW Burt MF Leppert ML Slattery et al. (2004) ArticleTitleGenetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. Gastroenterology 127 444–51 Occurrence Handle10.1053/j.gastro.2004.05.003 Occurrence Handle15300576
GK Heppner C Trzepacz TM Tuohy J Groden (2002) ArticleTitleAttenuated APC alleles produce functional protein from internal translation initiation. Proc Natl Acad Sci USA 99 8161–6 Occurrence Handle10.1073/pnas.112072199 Occurrence Handle12034871
der Luijt RB van KP Meera HF Vasen et al. (1996) ArticleTitleGermline mutations in the 3’ part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli. Hum Genet 98 727–34 Occurrence Handle10.1007/s004390050293 Occurrence Handle8931709
W Friedl S Meuschel R Caspari et al. (1996) ArticleTitleAttenuated familial adenomatous polyposis due to a mutation in the 3’ part of the APC gene. A clue for understanding the function of the APC protein. Hum Genet 97 579–84
WS Samowitz A Thliveris LN Spirio R White (1995) ArticleTitleAlternatively spliced adenomatous polyposis coli (APC) gene transcripts that delete exons mutated in attenuated APC. Cancer Res 55 3732–4 Occurrence Handle7641184
J Young LA Simms J Tarish et al. (1998) ArticleTitleA family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9. Hum Mutat 11 450–55 Occurrence Handle10.1002/(SICI)1098-1004(1998)11:6<450::AID-HUMU5>3.0.CO;2-P Occurrence Handle9603437
SJ Laken GM Petersen SB Gruber et al. (1997) ArticleTitleFamilial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet 17 79–83 Occurrence Handle10.1038/ng0997-79 Occurrence Handle9288102
L Petrukhin J Dangel L Vanderveer et al. (1997) ArticleTitleThe I1307K APC mutation does not predispose to colorectal cancer in Jewish Ashkenazi breast and breast-ovarian cancer kindreds. Cancer Res 57 5480–4 Occurrence Handle9407954
IM Frayling NE Beck M Ilyas et al. (1998) ArticleTitleThe APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. Proc Natl Acad Sci USA 95 10722–7 Occurrence Handle10.1073/pnas.95.18.10722 Occurrence Handle9724771
Tassan N Al NH Chmiel J Maynard et al. (2002) ArticleTitleInherited variants of MYH associated with somatic G:C–>T:A mutations in colorectal tumors. Nat Genet 30 227–32 Occurrence Handle10.1038/ng828 Occurrence Handle11818965
JR Sampson S Dolwani S Jones et al. (2003) ArticleTitleAutosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 362 39–41 Occurrence Handle10.1016/S0140-6736(03)13805-6 Occurrence Handle12853198
L Wang LM Baudhuin LA Boardman et al. (2004) ArticleTitleMYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. Gastroenterology 127 9–16 Occurrence Handle10.1053/j.gastro.2004.03.070 Occurrence Handle15236166
H Nagase Y Miyoshi A Horii et al. (1992) ArticleTitleCorrelation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients. Cancer Res 52 4055–7 Occurrence Handle1319838
AS Warthin (1913) ArticleTitleHeredity with reference to carcinoma. Arch Intern Med 12 546–55
AS Warthin (1925) ArticleTitleThe further study of a cancer family. J Cancer Res 9 279–86
IJ Hauser CV Weller (1936) ArticleTitleA further report on the cancer family of Warthin. Am J Cancer 27 434–49
HT Lynch MW Shaw CW Magnuson et al. (1966) ArticleTitleHereditary Factors in cancer: study of two large midwestern kindreds. Arch Intern Med 117 206–12 Occurrence Handle10.1001/archinte.117.2.206 Occurrence Handle5901552
HT Lynch AJ Krush (1971) ArticleTitleCancer family ‘G’ revisited: 1895–1970. Cancer 27 1505–11 Occurrence Handle5088221
HT Lynch RE Harris WA Bardawil et al. (1977) ArticleTitleManagement of hereditary site-specific colon cancer. Arch Surg 112 170–4 Occurrence Handle836152
HT Lynch AJ Krush (1971) ArticleTitleThe cancer family syndrome and cancer control. Surg Gynecol Obst 132 247–50
CR Boland (1978) ArticleTitleCancer family syndrome: A case report and literature review Am J Dig Dis 23 25–27 Occurrence Handle10.1007/BF01072482
CR Boland (1983) ArticleTitleFamilial colonic cancer syndromes. West J Med 139 351–9 Occurrence Handle6356610
JS Sams HT Lynch RW Burt et al. (1990) ArticleTitleAbnormalities of lectin histochemistry in familial polyposis coli and hereditary nonpolyposis colorectal cancer. Cancer 66 502–8 Occurrence Handle2194645
CR Boland FJ Troncale (1984) ArticleTitleFamilial colonic cancer without antecedent polyposis. Ann Intern Med 100 700–1 Occurrence Handle6712034
HT Lynch TJ Drouhard GS Schuelke et al. (1985) ArticleTitleHereditary nonpolyposis colorectal cancer in a Navajo Indian family. Cancer Genet Cytogenet 15 209–13 Occurrence Handle10.1016/0165-4608(85)90164-5 Occurrence Handle3971314
HT Lynch JF Lynch (1985) ArticleTitleHereditary nonpolyposis colorectal cancer (Lynch syndromes I and II): A common genotype linked to oncogenes? Med Hypoth 18 19–28 Occurrence Handle10.1016/0306-9877(85)90115-X
HT Lynch S Lanspa T Smyrk et al. (1991) ArticleTitleHereditary nonpolyposis colorectal cancer (Lynch syndromes I & II). Genetics, pathology, natural history, and cancer control, Part I. Cancer Genet Cytogenet 53 143–60
RD Kolodner NR Hall J Lipford et al. (1994) ArticleTitleStructure of the human MSH2 locus and analysis of two Muir–Torre kindreds for msh2 mutations. Genomics 24 516–26 Occurrence Handle10.1006/geno.1994.1661 Occurrence Handle7713503
HF Vasen JP Mecklin PM Khan HT Lynch (1991) ArticleTitleThe international collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum 34 424–5 Occurrence Handle10.1007/BF02053699 Occurrence Handle2022152
HT Lynch G Cristofaro P Rozen et al. (2003) ArticleTitleHistory of the international collaborative group on hereditary nonpolyposis colorectal cancer. Familial Cancer 2 3–5 Occurrence Handle10.1023/A:1025001714023 Occurrence Handle14574154
HF Vasen P Watson JP Mecklin HT Lynch (1999) ArticleTitleNew clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 116 1453–6 Occurrence Handle10348829
MA Peinado S Malkhosyan A Velazquez M Perucho (1992) ArticleTitleIsolation and characterization of allelic losses and gains in colorectal tumors by arbitrarily primed polymerase chain reaction. Proc Natl Acad Sci USA 89 10065–9 Occurrence Handle1359533
Y Ionov MA Peinado S Malkhosyan et al. (1993) ArticleTitleUbiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 363 558–61 Occurrence Handle10.1038/363558a0 Occurrence Handle8505985
SN Thibodeau G Bren D Schaid (1993) ArticleTitleMicrosatellite instability in cancer of the proximal colon. Science 260 816–9 Occurrence Handle8484122
P Peltomaki LA Aaltonen P Sistonen et al. (1993) ArticleTitleGenetic mapping of a locus predisposing to human colorectal cancer. Science 260 810–2 Occurrence Handle8484120
LA Aaltonen P Peltomaki FS Leach et al. (1993) ArticleTitleClues to the pathogenesis of familial colorectal cancer. Science 260 812–6 Occurrence Handle8484121
A Lindblom P Tannergard B Werelius M Nordenskjold (1993) ArticleTitleGenetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer. Nat Genet 5 279–82 Occurrence Handle10.1038/ng1193-279 Occurrence Handle7903889
CR Boland SN Thibodeau SR Hamilton et al. (1998) ArticleTitleA 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 5248–57 Occurrence Handle9823339
R Fishel MK Lescoe MR Rao et al. (1993) ArticleTitleThe human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75 1027–38 Occurrence Handle10.1016/0092-8674(93)90546-3 Occurrence Handle8252616
FS Leach NC Nicolaides N Papadopoulos et al. (1993) ArticleTitleMutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75 1215–25 Occurrence Handle10.1016/0092-8674(93)90330-S Occurrence Handle8261515
CE Bronner SM Baker PT Morrison et al. (1994) ArticleTitleMutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 368 258–61 Occurrence Handle10.1038/368258a0 Occurrence Handle8145827
N Papadopoulos NC Nicolaides YF Wei et al. (1994) ArticleTitleMutation of a mutL homolog in hereditary colon cancer. Science 263 1625–9 Occurrence Handle8128251
NC Nicolaides N Papadopoulos B Liu et al. (1994) ArticleTitleMutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 371 75–80 Occurrence Handle10.1038/371075a0 Occurrence Handle8072530
Y Akiyama H Sato T Yamada et al. (1997) ArticleTitleGerm-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res 57 3920–3 Occurrence Handle9307272
J Wijnen Leeuw W De H Vasen et al. (1999) ArticleTitleFamilial endometrial cancer in female carriers of MSH6 germline mutations. Nat Genet 23 142–4 Occurrence Handle10.1038/13773 Occurrence Handle10508506
YM Hendriks A Wagner H Morreau et al. (2004) ArticleTitleCancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: Impact on counseling and surveillance. Gastroenterology 127 17–25 Occurrence Handle10.1053/j.gastro.2004.03.068 Occurrence Handle15236168
SM Lipkin V Wang R Jacoby et al. (2000) ArticleTitleMLH3: A DNA mismatch repair gene associated with mammalian microsatellite instability. Nat Genet 24 27–35 Occurrence Handle10.1038/71643 Occurrence Handle10615123
Y Wu MJ Berends RH Sijmons et al. (2001) ArticleTitleA role for MLH3 in hereditary nonpolyposis colorectal cancer. Nat Genet 29 137–8 Occurrence Handle10.1038/ng1001-137 Occurrence Handle11586295
Y Wu MJ Berends JG Post et al. (2001) ArticleTitleGermline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms. Gastroenterology 120 1580–7 Occurrence Handle10.1053/gast.2001.25117 Occurrence Handle11375940
NA Alam P Gorman EE Jaeger et al. (2003) ArticleTitleGermline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instability. Cancer Genet Cytogenet 147 121–7 Occurrence Handle10.1016/S0165-4608(03)00196-1 Occurrence Handle14623461
S Jagmohan-Changur T Poikonen S Vilkki et al. (2003) ArticleTitleEXO1 variants occur commonly in normal population: Evidence against a role in hereditary nonpolyposis colorectal cancer. Cancer Res 63 154–8 Occurrence Handle12517792
SE Liberti LJ Rasmussen (2004) ArticleTitleIs hEXO1 a cancer predisposing gene? Mol Cancer Res 2 427–32 Occurrence Handle15328369
H Yan N Papadopoulos G Marra et al. (2000) ArticleTitleConversion of diploidy to haploidy. Nature 403 723–4 Occurrence Handle10.1038/35002251 Occurrence Handle10693791
MA Rodriguez-Bigas CR Boland SR Hamilton et al. (1997) ArticleTitleNational Cancer Institute workshop on hereditary nonpolyposis colorectal cancer syndrome: Meeting highlights and Bethesda guidelines. J Natl Cancer Inst 89 1758–62 Occurrence Handle10.1093/jnci/89.23.1758 Occurrence Handle9392616
A Umar CR Boland JP Terdiman et al. (2004) ArticleTitleRevised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96 261–8 Occurrence Handle14970275
W Dietmaier S Wallinger T Bocker et al. (1997) ArticleTitleDiagnostic microsatellite instability: Definition and correlation with mismatch repair protein expression. Cancer Res 57 4749–56 Occurrence Handle9354436
N Suraweera A Duval M Reperant et al. (2002) ArticleTitleEvaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR. Gastroenterology 123 1804–11
SM Lipkin LS Rozek G Rennert et al. (2004) ArticleTitleThe MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer. Nat Genet 36 694–9 Occurrence Handle10.1038/ng1374 Occurrence Handle15184898
E Thompson CJ Meldrum R Crooks et al. (2004) ArticleTitleHereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations. Clin Genet 65 215–25 Occurrence Handle10.1111/j.1399-0004.2004.00214.x Occurrence Handle14756672
Jong AE de Puijenbroek M Van Y Hendriks et al. (2004) ArticleTitleMicrosatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. Clin Cancer Res 10 972–80 Occurrence Handle14871975
T Hienonen P Laiho R Salovaara et al. (2003) ArticleTitleLittle evidence for involvement of MLH3 in colorectal cancer predisposition. Int J Cancer 106 292–6 Occurrence Handle10.1002/ijc.11218 Occurrence Handle12800209
SL Lu M Kawabata T Imamura et al. (1998) ArticleTitleHNPCC associated with germline mutation in the TGF-beta type II receptor gene. Nat Genet 19 17–18 Occurrence Handle9590282
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Boland, C.R. Evolution of the Nomenclature for the Hereditary Colorectal Cancer Syndromes. Familial Cancer 4, 211–218 (2005). https://doi.org/10.1007/s10689-004-4489-x
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DOI: https://doi.org/10.1007/s10689-004-4489-x