지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2016.1
- 수록면
- 668 - 675 (8page)
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초록· 키워드
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Purpose Lynch syndrome, the commonest hereditary colorectal cancer syndrome, is caused by germline mutations in mismatch repair (MMR) genes. Three recently developed prediction models for MMR gene mutations based on family history and clinical features (MMRPredict, PREMM1,2,6, and MMRPro) have been validated only in Western countries. In this study, we propose validating these prediction models in the Korean population.
Materials and Methods We collected MMR gene analysis data from 188 individuals in the Korean Hereditary Tumor Registry. The probability of gene mutation was calculated using three prediction models, and the overall diagnostic value of each model compared using receiver operator characteristic (ROC) curves and area under the ROC curve (AUC). Quantitative test characteristics were calculated at sensitivities of 90%, 95%, and 98%.
Results Of the individuals analyzed, 101 satisfied Amsterdam criteria II, and 87 were suspected hereditary nonpolyposis colorectal cancer. MMR mutations were identified in 62 of the 188 subjects (33.0%). All three prediction models showed a poor predictive value of AUC (MMRPredict, 0.683; PREMM1,2,6, 0.709; MMRPro, 0.590). Within the range of acceptable sensitivity (> 90%), PREMM1,2,6 demonstrated higher specificity than the other models.
Conclusion In the Korean population, overall predictive values of the three models (MMRPredict, PREMM1,2,6, MMRPro) for MMR gene mutations are poor, compared with their performance in Western populations. A new prediction model is therefore required for the Korean population to detect MMR mutation carriers, reflecting ethnic differences in genotype-phenotype associations.
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참고문헌 (25)
참고문헌 신청
Rustgi AK / 2007 / The genetics of hereditary colon cancer / Genes Dev 21:2525~2538
Lindor NM / 2005 / Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency : familial colorectal cancer type X / JAMA 293:1979~1985
Mensenkamp AR / 2014 / Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatchrepair deficiency in Lynch syndrome-like tumors / Gastroenterology 146:643~646
Bosman FT / 2010 / WHO classification of tumours of the digestive system / IARC Press
Kastrinos F / 2013 / Prediction models in Lynch syndrome / Fam Cancer 12:217~228
Lindor NM / 2005 / Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency : familial colorectal cancer type X / JAMA 293:1979~1985
Mensenkamp AR / 2014 / Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatchrepair deficiency in Lynch syndrome-like tumors / Gastroenterology 146:643~646
Bosman FT / 2010 / WHO classification of tumours of the digestive system / IARC Press
Kastrinos F / 2013 / Prediction models in Lynch syndrome / Fam Cancer 12:217~228
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