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.
초록· 키워드
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Lynch syndrome is a genetic malignancy syndrome affecting the colon, endometrium, and other organs. It is difficult to find a Lynch syndrome patient without any family history of cancer. We have recently examined an endometrial cancer patient with a MSH2 gene mutation without a family history of cancer. A 55-year old Korean woman was admitted to a local clinic for vaginal bleeding. An endometrial biopsy revealed the presence of adenocarcinoma (endometrioid type, grade 1). After surgical staging, no further adjuvant therapy was required. Analysis of the tissue using immunohistochemistry (IHC) showed the endometrium stained negatively for MSH2. Microsatellite instability (MSI) was analyzed for five markers. The patient was scored as unstable. Further, additional gene sequencing revealed one missense mutation in c.23C > T (p.Thr8Met). This is the first case of Lynch syndrome endometrial cancer in Korea in which the patient does not have any family history of cancer.
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참고문헌 (12)
참고문헌 신청
Aarnio M / 1999 / Cancer risk in mutation carriers of DNA-mismatch-repair genes / Int J Cancer 81 : 214 ~ 218
Berends MJ / 2003 / Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis / J Clin Oncol 21 : 4364 ~ 4370
Foo W / 2009 / Family history? The forgotten question in high-risk colorectal cancer patients / Colorectal Dis 11 : 450 ~ 455
Kelly PP / 2011 / Colorectal cancer family history assessment / Clin J Oncol Nurs 15 : E75 ~ E82
Ladabaum U / 2012 / Lynch syndrome in patients with colorectal cancer: finding the needle in the haystack / JAMA 308 : 1581 ~ 1583
Berends MJ / 2003 / Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis / J Clin Oncol 21 : 4364 ~ 4370
Foo W / 2009 / Family history? The forgotten question in high-risk colorectal cancer patients / Colorectal Dis 11 : 450 ~ 455
Kelly PP / 2011 / Colorectal cancer family history assessment / Clin J Oncol Nurs 15 : E75 ~ E82
Ladabaum U / 2012 / Lynch syndrome in patients with colorectal cancer: finding the needle in the haystack / JAMA 308 : 1581 ~ 1583
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