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https://hdl.handle.net/2440/62287
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dc.contributor.author | Suthers, G. | - |
dc.date.issued | 2010 | - |
dc.identifier.citation | Journal of the National Cancer Institute, 2010; 102(3):193-201 | - |
dc.identifier.issn | 0027-8874 | - |
dc.identifier.issn | 1460-2105 | - |
dc.identifier.uri | http://hdl.handle.net/2440/62287 | - |
dc.description.abstract | Background: Germline mutations in MSH6 account for 10%–20% of Lynch syndrome colorectal cancers caused by hereditary DNA mismatch repair gene mutations. Because there have been only a few studies of mutation carriers, their cancer risks are uncertain. Methods: We identified 113 families of MSH6 mutation carriers from five countries that we ascertained through family cancer clinics and population-based cancer registries. Mutation status, sex, age, and histories of cancer, polypectomy, and hysterectomy were sought from 3104 of their relatives. Age-specific cumulative risks for carriers and hazard ratios (HRs) for cancer risks of carriers, compared with those of the general population of the same country, were estimated by use of a modified segregation analysis with appropriate conditioning depending on ascertainment. Results: For MSH6 mutation carriers, the estimated cumulative risks to ages 70 and 80 years, respectively, were as follows: for colorectal cancer, 22% (95% confidence interval [CI] = 14% to 32%) and 44% (95% CI = 28% to 62%) for men and 10% (95% CI = 5% to 17%) and 20% (95% CI = 11% to 35%) for women; for endometrial cancer, 26% (95% CI = 18% to 36%) and 44% (95% CI = 30% to 58%); and for any cancer associated with Lynch syndrome, 24% (95% CI = 16% to 37%) and 47% (95% CI = 32% to 66%) for men and 40% (95% CI = 32% to 52%) and 65% (95% CI = 53% to 78%) for women. Compared with incidence for the general population, MSH6 mutation carriers had an eightfold increased incidence of colorectal cancer (HR = 7.6, 95% CI = 5.4 to 10.8), which was independent of sex and age. Women who were MSH6 mutation carriers had a 26-fold increased incidence of endometrial cancer (HR = 25.5, 95% CI = 16.8 to 38.7) and a sixfold increased incidence of other cancers associated with Lynch syndrome (HR = 6.0, 95% CI = 3.4 to 10.7). Conclusion: We have obtained precise and accurate estimates of both absolute and relative cancer risks for MSH6 mutation carriers. | - |
dc.description.statementofresponsibility | Laura Baglietto... Dutch Lynch Syndrome Study Group... Graeme Suthers... et al. | - |
dc.language.iso | en | - |
dc.publisher | Oxford Univ Press Inc | - |
dc.rights | © The Author 2009. Published by Oxford University Press. | - |
dc.source.uri | http://dx.doi.org/10.1093/jnci/djp473 | - |
dc.subject | Dutch Lynch Syndrome Study Group | - |
dc.subject | Humans | - |
dc.subject | Neoplasms | - |
dc.subject | Colorectal Neoplasms, Hereditary Nonpolyposis | - |
dc.subject | Endometrial Neoplasms | - |
dc.subject | DNA-Binding Proteins | - |
dc.subject | Registries | - |
dc.subject | Incidence | - |
dc.subject | Risk Assessment | - |
dc.subject | Risk Factors | - |
dc.subject | Mutagenesis, Insertional | - |
dc.subject | Age Factors | - |
dc.subject | Sex Factors | - |
dc.subject | Age Distribution | - |
dc.subject | Sex Distribution | - |
dc.subject | Gene Deletion | - |
dc.subject | Heterozygote | - |
dc.subject | Germ-Line Mutation | - |
dc.subject | Adult | - |
dc.subject | Aged | - |
dc.subject | Aged, 80 and over | - |
dc.subject | Middle Aged | - |
dc.subject | Canada | - |
dc.subject | United States | - |
dc.subject | Australia | - |
dc.subject | Europe | - |
dc.subject | New Zealand | - |
dc.subject | Female | - |
dc.subject | Male | - |
dc.title | Risks of Lynch Syndrome cancers for MSH6 mutation carriers | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1093/jnci/djp473 | - |
pubs.publication-status | Published | - |
Appears in Collections: | Aurora harvest Paediatrics publications |
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