1994
DOI: 10.1093/jnci/86.18.1417
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Mutation of an mutL Homologue in a Navajo Family With Hereditary Nonpolyposis Colorectal Cancer

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Cited by 24 publications
(10 citation statements)
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“…HNPCC families are characterised by a high frequency of colorectal and extracolonic malignancies of the gastrointestinal, upper urological and female genital tracts, often with early age of onset Watson and Lynch, 1993). Human homologues of bacterial and yeast DNA mismatch repair genes have been located on chromosomes 2 (hMSH2, hPMS1), 3 (hMLHI) and 7 (hPMS2), and mutations have been identified at these loci in HNPCC patients (Fishel et al, 1993;Leach et al, 1993;Bronner et al, 1994;Kolodner et al, 1994Kolodner et al, , 1995Liu et al, 1994;Lynch et al, 1994;Mary et al, 1994;Nicolaides et al, 1994;Papadopoulos et al, 1994;Han et al, 1995).…”
mentioning
confidence: 99%
“…HNPCC families are characterised by a high frequency of colorectal and extracolonic malignancies of the gastrointestinal, upper urological and female genital tracts, often with early age of onset Watson and Lynch, 1993). Human homologues of bacterial and yeast DNA mismatch repair genes have been located on chromosomes 2 (hMSH2, hPMS1), 3 (hMLHI) and 7 (hPMS2), and mutations have been identified at these loci in HNPCC patients (Fishel et al, 1993;Leach et al, 1993;Bronner et al, 1994;Kolodner et al, 1994Kolodner et al, , 1995Liu et al, 1994;Lynch et al, 1994;Mary et al, 1994;Nicolaides et al, 1994;Papadopoulos et al, 1994;Han et al, 1995).…”
mentioning
confidence: 99%
“…Sequencing of the MSH2 locus in HNPCC affected vs non-affected individuals confirmed the presence of a mutation only in affected individuals (84,85). Subsequently, other HNPCC kindreds with mutations in MLH1, PMS1 and PMS2 were also described, cementing the view that HNPCC is a mismatch repair disease (88)(89)(90)(91)(92) (Table 3).…”
Section: Matching Mmr With Hnpccmentioning
confidence: 87%
“…Although the CRC rate in the American Indian population in the southwest United States has risen slightly in the past several decades (31), this low rate has persisted in spite of the shift from plants and leaner lower fat protein food sources to higher fat and lower grain and vegetable intakes. The frequency of defective MMR in CRC arising in American Indians is unknown; however, one Navajo kindred has been reported to meet the Amsterdam criteria, with a causative germ line hMLH1 mutation detected within this kindred (32). In the current study, patients were characterized as recorded on the medical records (Eskimo, Indian, and Aleut), and tribal affiliation was not included in the research data file.…”
Section: Discussionmentioning
confidence: 99%