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
- 2013.1
- 수록면
- 120 - 125 (6page)
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초록· 키워드
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Attenuated familial adenomatous polyposis (AFAP) is a variant of familial adenomatous polyposis with fewer than one hundred colorectal polyps and a later age of onset of the cancer. Here, we report two cases of AFAP within family members. Each patient demonstrated the same novel germ line mutation in exon 15 of the adenomatous polyposis coli (APC) gene and was successfully managed with sulindac after refusal to perform colectomy: a 23-year-old man with incidentally diagnosed gastric adenoma and fundic gland polyps underwent colonoscopy, and fewer than 100 colorectal polyps were found; a 48-year-old woman who happened to be the mother of the 23-year-old man also showed fewer than 100 colorectal polyps on colonoscopy. Genetic analysis revealed a novel frameshift mutation in exon 15 of the APC gene. The deletion of adenine-guanine with the insertion of thymine in c.3833-3834 resulted in the formation of stop codon 1,287 in both patients. The patients were treated with sulindac due to their refusal to undergo colectomy. The annual follow-up upper endoscopy and colonoscopy in the following 2 years revealed significant regression of the colorectal polyps in both patients.
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참고문헌 (24)
참고문헌 신청
Beaton MD / 2008 / Colonic interposition in a woman with attenuated familial adenomatosis polyposis: does the location of the colon affect polyp formation? / Can J Gastroent
Bhatnagar P / 2006 / Variation of a variation: case report of attenuated familial adenomatous polyposis / HPB (Oxford) 8 : 155 ~ 156
Bisgaard ML / 1994 / Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate / Hum Mutat 3 : 121 ~ 125
Bussey HJ / 1987 / Historical developments in familial polyposis coli / Semin Surg Oncol 3 : 67 ~ 70
Contessini-Avesani E / 2004 / Familial adenomatous polyposis. Surgical treatment: when and how / Tech Coloproctol (8 Suppl 2) : S309 ~ S314
Bhatnagar P / 2006 / Variation of a variation: case report of attenuated familial adenomatous polyposis / HPB (Oxford) 8 : 155 ~ 156
Bisgaard ML / 1994 / Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate / Hum Mutat 3 : 121 ~ 125
Bussey HJ / 1987 / Historical developments in familial polyposis coli / Semin Surg Oncol 3 : 67 ~ 70
Contessini-Avesani E / 2004 / Familial adenomatous polyposis. Surgical treatment: when and how / Tech Coloproctol (8 Suppl 2) : S309 ~ S314
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