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
- 2018.1
- 수록면
- 79 - 83 (5page)
이용수
초록· 키워드
오류제보하기
Cowden syndrome (CS), also known as multiple hamartomas syndrome, is a rare hereditary autosomal dominant disorder caused by a germline mutation in the phosphatase and tensin homolog (PTEN) gene mapped on chromosome 10. The clinical features of CS are variable, primarily presenting as mucocutaneous lesions (99%). A mucocutaneous lesion, such as trichilemmoma of the face or keratosis of the extremities, is an important diagnostic marker for CS. CS has been reported to increase the incidence of benign and malignant neoplasms in the breast, thyroid, and gastrointestinal tract. The risk of developing malignancy in individuals with CS is up to 10 times higher than general population throughout an entire life time.
목차
등록된 정보가 없습니다.
참고문헌 (12)
참고문헌 신청
Rhei E / 1997 / Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas / Cancer Res 57:3657~3659
Lynch ED / 1997 / Inherited mutations in PTEN that are associated with breast cancer, Cowden disease, and juvenile polyposis / Am J Hum Genet 61:1254~1260
Hanssen AM / 1995 / Cowden syndrome / J Med Genet 32:117~119
Porto AC / 2013 / Cowden syndrome: report of a case and brief review of literature / An Bras Dermatol 88(6 Suppl 1):52~55
Tellechea O / 2015 / Benign follicular tumors / An Bras Dermatol 90:780~796
Lynch ED / 1997 / Inherited mutations in PTEN that are associated with breast cancer, Cowden disease, and juvenile polyposis / Am J Hum Genet 61:1254~1260
Hanssen AM / 1995 / Cowden syndrome / J Med Genet 32:117~119
Porto AC / 2013 / Cowden syndrome: report of a case and brief review of literature / An Bras Dermatol 88(6 Suppl 1):52~55
Tellechea O / 2015 / Benign follicular tumors / An Bras Dermatol 90:780~796
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