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논문 기본 정보

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학술저널
저자정보
Angel Chao (Chang Gung Memorial Hospital Linkou Medical Center) Yi-Hao Lin (Chang Gung Memorial Hospital Linkou Medical Center and Chang Gung University) Lan-Yan Yang (Chang Gung Memorial Hospital) Ren-Chin Wu (Chang Gung Memorial Hospital) Wei-Yang Chang (Clinical Trial Center Chang Gung Memorial Hospital) Pi-Yueh Chang (Department of Laboratory Medicine Chang Gung Memorial Hospital) Shih-Cheng Chang (Department of Laboratory Medicine Chang Gung Memorial Hospital) Chiao-Yun Lin (Gynecologic Cancer Research Center Chang Gung Memorial Hospital) Huei-Jean Huang (Department of Obstetrics and Gynecology Chang Gung Memorial Hospital) Cheng-Tao Lin (Department of Obstetrics and Gynecology Chang Gung Memorial Hospital) Hung-Hsueh Chou (Chang Gung University) Kuan-Gen Huang (Chang Gung Memorial Hospital at Linkou) Wen-Ling Kuo (Department of General Surgery Chang Gung Memorial Hospital Linkou Medical Center) Ting-Chang Chang (Chang Gung Memorial Hospital Linkou Medical Center and Chang Gung University) Chyong-Huey Lai (Chang Gung Memorial Hospital Linkou Branch)
저널정보
대한부인종양학회 Journal of Gynecologic Oncology Journal of Gynecologic Oncology Vol.31 No.3
발행연도
2020.1
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1 - 12 (12page)

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Objective: The characteristics of patients with metachronous breast and ovarian malignancies and the pathogenic role of BRCA1/2 mutations remain poorly understood. We investigated these issues through a review of hospital records and nationwide Taiwanese registry data, followed by BRCA1/2 mutation analysis in hospital-based cases. Methods: We retrospectively retrieved consecutive clinical records of Taiwanese patients who presented with these malignancies to our hospital between 2001 and 2017. We also collected information from the Data Science Center of the Taiwan Cancer Registry (TCR) between 2007 and 2015. Next-generation sequencing and multiplex ligation-dependent probe amplification were used to identify BRCA1/2 mutations and large genomic rearrangements, respectively. When BRCA1/2 mutations were identified in index cases, pedigrees were reconstructed and genetic testing was offered to family members. Results: A total of 12,769 patients with breast cancer and 1,537 with ovarian cancer were retrieved from our hospital records. Of them, 28 had metachronous breast and ovarian malignancies. We also identified 113 cases from the TCR dataset. Eighteen hospital-based cases underwent BRCA1/2 sequencing and germline pathogenic mutations were detected in 7 patients (38.9%, 5 in BRCA1 and 2 in BRCA2). All BRCA1/2 mutation carriers had ovarian high-grade serous carcinomas. Of the 12 patients who were alive at the time of analysis, 5 were BRCA1/2 mutation carriers. All of them had family members with BRCA1/2-associated malignancies. Conclusions: Our results provide pilot evidence that BRCA1/2 mutations are common in Taiwanese patients with metachronous breast and ovarian malignancies, supporting the clinical utility of genetic counseling.
#Genes #BRCA1 #Genes #BRCA2 #Breast Cancer #Ovarian Cancer #Metachronous Neoplasms #Genetic Counseling

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참고문헌 (31)

참고문헌 신청
Hall JM / 1990 / Linkage of early-onset familial breast cancer to chromosome 17q21 / Science 250:1684~1689 google schola Wooster R / 1994 / Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13 / Science 265:2088~2090 google schola 서동훈 / 2018 / Practice guidelines for management of ovarian cancer in Korea: a Korean Society of Gynecologic Oncology Consensus Statement / Journal of Gynecologic Oncology 29(4):1~18 dbpia Antoniou A / 2003 / Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history : a combined analysis of 22 studies / Am J Hum Genet 72:1117~1130 google schola Cancer Genome Atlas Research Network / 2011 / Integrated genomic analyses of ovarian carcinoma / Nature 474:609~615 google schola

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