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
- 55 - 58 (4page)
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초록· 키워드
오류제보하기
Pseudomyxoma peritonei (PMP) is a rare tumor that usually originates in the appendix, but a small number of cases originate in the ovary. Lynch syndrome (LS) is an autosomal dominant hereditary condition that increases the risk of cancer, particularly in the colon and endometrium. Mutations in the mismatch repair genes (MSH2, MLH1, MSH6, and PMS2) increase the risk of LS. Reported PMP cases with hereditary gene mutations of unknown significance are also rare. Here, we investigated a PMP patient and her family members, who have an MSH2 variant of unknown significance. Physicians have an important role in counseling, management, and surveillance based on genetics and pathogenicity.
목차
등록된 정보가 없습니다.
참고문헌 (13)
참고문헌 신청
Lynch HT / 1966 / Hereditary factors in cancer. Study of two large midwestern kindreds / Arch Intern Med 117:206~212
Fishel R / 1993 / The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer / Cell 75:1027~1038
Papadopoulos N / 1994 / Mutation of a mutL homolog in hereditary colon cancer 263:1625~1629
Aarnio M / 1999 / Cancer risk in mutation carriers of DNA-mismatchrepair genes / Int J Cancer 81:214~218
Stoffel E / 2009 / Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome / Gastroenterology 137:1621~1627
Fishel R / 1993 / The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer / Cell 75:1027~1038
Papadopoulos N / 1994 / Mutation of a mutL homolog in hereditary colon cancer 263:1625~1629
Aarnio M / 1999 / Cancer risk in mutation carriers of DNA-mismatchrepair genes / Int J Cancer 81:214~218
Stoffel E / 2009 / Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome / Gastroenterology 137:1621~1627
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