Prediction of MLH1 and MSH2 mutations in Lynch syndrome
Article Abstract:
The MLH1/MSH2 mutation prevalence in a large cohort of patients undergoing genetic testing is analyzed and a clinical model is developed to predict the likelihood of finding a mutation in at-risk patients. Personal and family history characteristics can accurately predict the outcome of genetic testing in a large population at risk of Lynch syndrome and the clinical model PREMM provides an accurate tool to estimate the likelihood of finding mutations in the MLH1/MSH2 genes.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 2006
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Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer
Article Abstract:
A multicenter study was conducted to evaluate the potential of conversion analysis compared with DNA sequencing alone to detect heterogeneous germline mutations in MLH1, MSH2, and MSH6 in colorectal cancer patients. The data confirmed the heterogeneity of mismatch repair mutations and revealed that many mutations in colorectal cancer cases would be missed using conventional genomic DNA sequencing alone.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 2005
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F18-fluorodeoxyglucose-position emission tomography/computed tomography screening in Li-Fraumeni syndrome
Article Abstract:
A study to decide if F18-fluorodeoxyglucose-position emission tomography/computed tomography screening proved useful to detect early malignancies in Li-Fraumeni syndrome (LFS) was conducted. Results revealed that the screening did help to detect the early onset of LFS but the risk of exposing patients to such high doses of radiation called for further study.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 2008
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