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
- 저널정보
- 대한외과학회 Annals of Surgical Treatment and Research Annals of Surgical Treatment and Research Vol.87 No.3
- 발행연도
- 2014.8
- 수록면
- 123 - 130 (8page)
이용수
초록· 키워드
오류제보하기
Purpose: Sporadic colorectal cancers with high-frequency microsatellite instability (MSI-H) are related to hypermethylation of mismatch repair (MMR) genes and a higher frequency of BRAF mutations than Lynch syndrome. We estimated the feasibility of hereditary colorectal cancer based on hMLH1 methylation and BRAF mutations.
Methods: Between May 2005 and June 2011, we enrolled all 33 analyzed patients with MSI-H cancer (male:female, 23:10; mean age, 65.5 ± 9.4 years) from a prospectively maintained database that didn’t match Bethesda guidelines and who had results of hMLH1 methylation and BRAF mutations.
Results: Among the 33 patients, hMLH1 promoter methylation was observed in 36.4% (n = 12), and was not significantly related with clinicopathologic variables, including MLH1 expression. BRAF mutations were observed in 33.3% of the patients (n = 11). Four of 11 and five of 22 patients with MSI-H colon cancers were BRAF mutation (+)/ hMLH1 promoter methylation (?) or BRAF mutation (?)/hMLH1 promoter methylation (+). Of the 33 patients, 21.2% were BRAF mutation (+)/hMLH1 promoter methylation (+), indicating sporadic cancers. Seventeen patients (51.5%) were BRAF mutation (?)/ hMLH1 promoter methylation (?), and suggested Lynch syndrome.
Conclusion: Patients with MSI-H colorectal cancers not fulfilling the Bethesda guidelines possibly have hereditary colorectal cancers. Adding tests of hMLH1 promoter methylation and BRAF mutations can be useful to distinguish them from sporadic colorectal cancers.
Methods: Between May 2005 and June 2011, we enrolled all 33 analyzed patients with MSI-H cancer (male:female, 23:10; mean age, 65.5 ± 9.4 years) from a prospectively maintained database that didn’t match Bethesda guidelines and who had results of hMLH1 methylation and BRAF mutations.
Results: Among the 33 patients, hMLH1 promoter methylation was observed in 36.4% (n = 12), and was not significantly related with clinicopathologic variables, including MLH1 expression. BRAF mutations were observed in 33.3% of the patients (n = 11). Four of 11 and five of 22 patients with MSI-H colon cancers were BRAF mutation (+)/ hMLH1 promoter methylation (?) or BRAF mutation (?)/hMLH1 promoter methylation (+). Of the 33 patients, 21.2% were BRAF mutation (+)/hMLH1 promoter methylation (+), indicating sporadic cancers. Seventeen patients (51.5%) were BRAF mutation (?)/ hMLH1 promoter methylation (?), and suggested Lynch syndrome.
Conclusion: Patients with MSI-H colorectal cancers not fulfilling the Bethesda guidelines possibly have hereditary colorectal cancers. Adding tests of hMLH1 promoter methylation and BRAF mutations can be useful to distinguish them from sporadic colorectal cancers.
목차
INTRODUCTION
METHODS
RESULTS
DISCUSSION
REFERENCES
참고문헌 (26)
참고문헌 신청
1. [학술지(정기간행물)] - Jacob S. / 2002 / DNA mismatch repair defects : role in colorectal carcinogenesis / Biochimie 84 : 27 ~ 47
2. [학술지(정기간행물)] - Aaltonen LA. / 1998 / Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease / N Engl J Med 338 : 1481 ~ 1487
3. [학술지(정기간행물)] - Vasen HF. / 1996 / Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis / Gastroenterology 110 : 1020 ~ 1027
4. [학술지(정기간행물)] - Kinzler KW. / 1996 / Lessons from hereditary colorectal cancer / Cell 87 : 159 ~ 170
5. [학술지(정기간행물)] - Peltomaki P. / 1997 / Mutations predisposing to hereditary nonpolyposis colorectal cancer : database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer / Gastroenterology 113 : 1146 ~ 1158
2. [학술지(정기간행물)] - Aaltonen LA. / 1998 / Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease / N Engl J Med 338 : 1481 ~ 1487
3. [학술지(정기간행물)] - Vasen HF. / 1996 / Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis / Gastroenterology 110 : 1020 ~ 1027
4. [학술지(정기간행물)] - Kinzler KW. / 1996 / Lessons from hereditary colorectal cancer / Cell 87 : 159 ~ 170
5. [학술지(정기간행물)] - Peltomaki P. / 1997 / Mutations predisposing to hereditary nonpolyposis colorectal cancer : database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer / Gastroenterology 113 : 1146 ~ 1158
이 논문의 저자 정보
최근 본 자료
댓글(0)
0
UCI(KEPA) : I410-ECN-0101-2015-510-002711833