Molecular Diagnosis of Hereditary Nonpolyposis Colorectal Cancer

O'Leary, Timothy J.

doi:10.1001/jama.282.3.281

Cited by 2 publications

(2 citation statements)

References 38 publications

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“…The Bethesda Guidelines were proposed to target who should undergo tumour MSI analysis. However, the use of MSI testing in clinical practice has some major practical obstacles: MSI testing as a routine commercial clinical laboratory test is not widely available, and tumour blocks are often difficult to obtain/analyse owing to logistical and technical difficulties [36]. In our country, many HNPCC patients were found in outpatient department and they had already received the operation in local hospital, so tumour tissues were hardly got because the patients were from all of the provinces.…”

Section: Discussionmentioning

confidence: 99%

Clinicopathological and genetic features of Chinese hereditary nonpolyposis colorectal cancer (HNPCC)

Liu

Zhou

et al. 2014

Med Oncol

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The aim of this study was to investigate the clinical value of different criteria and to understand the relationship between genotype and phenotype in Chinese hereditary nonpolyposis colorectal cancer (HNPCC). A total of 116 unrelated probands of suspected HNPCC families from the Fudan Colorectal Registry were studied. A total of 32, 28, and 56 families fulfilled the Amsterdam criteria, the Fudan criteria and the revised Bethesda guideline, respectively. Direct DNA sequencing of all exons of hMSH2 and hMLH1 genes were performed on all 116 samples. Mutations and clinicopathological features were compared between the groups. Thirty-two pathological germline mutations were identified. Out of 32 mutations, 16 were located at hMLH1 and 16 at hMSH2. The sensitivity of Amsterdam criteria was 50 %, specificity was 81 %, and Youden’s index was 31 %. The sensitivity of Fudan criteria was 75 %, specificity was 58 %, and Youden’s index was 33 %. Among all the 32 families with mutations, families with hMSH2 mutation had a higher ratio of synchronous and metachronous colon cancers than families with hMLH1 mutation (33 vs. 6 %, P = 0.04). Patients with hMSH2 mutation more frequently harbour synchronous and metachronous colon cancers. Fudan criteria had a little higher sensitivity and accuracy than Amsterdam criteria for identification of Chinese HNPCC.

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Section: Discussionmentioning

confidence: 99%

Clinicopathological and genetic features of Chinese hereditary nonpolyposis colorectal cancer (HNPCC)

Liu

Zhou

et al. 2014

Med Oncol

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“…The Bethesda Guidelines were proposed to target who should undergo tumour MSI analysis. However, the use of MSI testing in clinical practice has some major practical obstacles: MSI testing as a routine commercial clinical laboratory test is not widely available and tumour blocks are often difficult to obtain/analyse owing to logistical and technical difficulties 23. The prevalence of MSH2 and MLH1 mutations if only criteria 1-3 of the Guidelines were used was 39%.…”

Section: Discussionmentioning

confidence: 99%

Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1

Syngal

Fox

Eng

et al. 2000

Journal of Medical Genetics

262

163

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-92), respectively. Overall, the most sensitive criteria for identifying families with pathogenic mutations were the Bethesda criteria, with a sensitivity of 94% (95% CI 88-100); the specificity of these criteria was 25% (95% CI 14-36). Use of the first three criteria of the Bethesda guidelines only was associated with a sensitivity of 94% and a specificity of 49% (95% CI 34-64). Conclusions-TheAmsterdam criteria for HNPCC are neither suYciently sensitive nor specific for use as a sole criterion for determining which families should undergo testing for MSH2 and MLH1 mutations. The Modified Amsterdam and the Amsterdam II criteria increase sensitivity, but still miss many families with mutations. The most sensitive clinical criteria for identifying subjects with pathogenic MSH2 and MLH1 mutations were the Bethesda Guidelines; a streamlined version of the Bethesda Guidelines may be more specific and easier to use in clinical practice. (J Med Genet 2000;37:641-645)

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Molecular Diagnosis of Hereditary Nonpolyposis Colorectal Cancer

Cited by 2 publications

References 38 publications

Clinicopathological and genetic features of Chinese hereditary nonpolyposis colorectal cancer (HNPCC)

Clinicopathological and genetic features of Chinese hereditary nonpolyposis colorectal cancer (HNPCC)

Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1

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