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
오류제보하기
We present a case of an endometrial cancer patient with germline mutation in MutS homolog 6 (MSH6), associated with Lynchsyndrome. A 60-year-old Korean woman had a personal history of colon cancer 23 years ago. She also had a family history ofendometrial cancer and colon cancer of her sisters and brothers. Immunohistochemistry was negative for MutL homolog 1 (MLH1)and positive for MutS homolog 2 (MSH2). Based on these findings, she underwent genetic counseling and testing that revealed aframeshift germline mutation at MSH6 (c. 3261dupC). (J Menopausal Med 2017;23:69-73)
목차
등록된 정보가 없습니다.
참고문헌 (17)
참고문헌 신청
American Congress of Obstetricians and Gynecologists Committee on Genetics / 2015 / Committee opinion no. 634:Hereditary cancer syndromes and risk assessment / Obstet Gynecol
Barrow E / 2009 / Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations / Clin Genet 75 : 141 ~ 149
Bonadona V / 2011 / Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome / JAMA 305 : 2304 ~ 2310
Broaddus RR / 2006 / Pathologic features of endometrial carcinoma associated with HNPCC: a comparison with sporadic endometrial carcinoma / Cancer 106 : 87 ~ 94
Clarke BA / 2012 / Identifying Lynch syndrome in patients with endometrial carcinoma: shortcomings of morphologic and clinical schemas / Adv Anat Pathol 19 : 231 ~ 238
Barrow E / 2009 / Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations / Clin Genet 75 : 141 ~ 149
Bonadona V / 2011 / Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome / JAMA 305 : 2304 ~ 2310
Broaddus RR / 2006 / Pathologic features of endometrial carcinoma associated with HNPCC: a comparison with sporadic endometrial carcinoma / Cancer 106 : 87 ~ 94
Clarke BA / 2012 / Identifying Lynch syndrome in patients with endometrial carcinoma: shortcomings of morphologic and clinical schemas / Adv Anat Pathol 19 : 231 ~ 238
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