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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 1 - 11 (11page)
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Objective: To evaluate the importance of Lynch syndrome associated risk screening in the patients aged less than 50 years affected from endometrial cancer. Methods: From 2007 to 2014, 41 patients affected from endometrial cancer and aged less than 50 years underwent surgery at the Complex Operative Unit of Gynecology and Obstetrics, Cannizzaro Hospital of Catania, Italy. They were selected to undergo mismatch repair gene mutation analysis using immunohistochemistry (IHC; four markers: MLH1, MSH2, MSH6, PMS2) and microsatellite instability (MSI) test. For samples that resulted negative to IHC (abnormal finding), MSI test was performed to further study the suspected mutation. Samples were classified as MSI-high (MSI-H) if more than one marker was identified as unstable; MSI-low (MSI-L) if only one marker was identified as unstable; or MSI-stable (MSI-S) if no marker was identified as unstable. Samples were subdivided into two groups: MSI-H/L and MSI-S. Statistical analysis was performed to assess differences regarding survival, tumor staging, grading, and invasion of lymphovascular space between these two groups. Results: IHC analysis showed that in 46% (19/41) of samples there was negative outcome. Forty-two percent (8/19) of these negative samples were unstable (either low or high). Of eight patients showing MSI, 75% were MSI-L, while 25% were MSI-H. Differences in survival, stage, grade, lymphovascular space invasion and Amsterdam criteria adherence were not statistically significant due to the small size of the cohort. Conclusion: IHC and MSI test results of our cohort lead us to assess the relevance of performing Lynch syndrome genetic screening in endometrial cancer patients aged less than 50 years at the time of diagnosis.
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참고문헌 (23)
참고문헌 신청
Lynch HT / 1999 / Genetic susceptibility to non-polyposis colorectal cancer / J Med Genet 36:801~818
Weitz J / 2005 / Colorectal cancer / Lancet 365:153~165
Jasperson KW / 2010 / Hereditary and familial colon cancer / Gastroenterology 138:2044~2058
Lynch HT / 2009 / Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications / Clin Genet 76:1~18
Lu KH / 2007 / Prospective determination of prevalence of lynch syndrome in young women with endometrial cancer / J Clin Oncol 25:5158~5164
Weitz J / 2005 / Colorectal cancer / Lancet 365:153~165
Jasperson KW / 2010 / Hereditary and familial colon cancer / Gastroenterology 138:2044~2058
Lynch HT / 2009 / Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications / Clin Genet 76:1~18
Lu KH / 2007 / Prospective determination of prevalence of lynch syndrome in young women with endometrial cancer / J Clin Oncol 25:5158~5164
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