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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 1 - 9 (9page)
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OBJECTIVE: The aim of the present study was to assess the frequency of germline mutations in patients with peritoneal carcinoma (PC) or the fallopian tube carcinoma (FTC), using a multi-gene panel. METHODS: Twenty-six patients diagnosed with either PC or FTC between January 2013 and December 2016 were recruited consecutively. Germline DNA was sequenced using a 6-gene next generation sequencing (NGS) panel following genetic counseling. Surgico-medical information was obtained from hospital records. Genetic variations were detected using the panel and were cross-validated by Sanger direct sequencing. RESULTS: Germline BRCA1/2 mutations were identified in 6 patients (23.1%). Four were detected in patients with PC and 2 were in FTC patients. No mutations were detected in TP53, PTEN, CDH1, or PALB2. We identified 11 variant of uncertain significance (VUS) in 9 patients; 2 in BRCA1, 3 in BRCA2, 2 in TP53, and 4 in CDH1. We also detected a CDH1 c.2164+16->A VUS in 3 patients. CONCLUSION: The prevalence of germline BRCA1/2 mutations in patients with PC or FTC is comparable to that of BRCA1/2 mutations in epithelial ovarian cancer patients.
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참고문헌 (33)
참고문헌 신청
Russo A / 2009 / Hereditary ovarian cancer / Crit Rev Oncol Hematol 69:28~44
Miki Y / 1994 / A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 / Science 266:66~71
Wooster R / 1995 / Identification of the breast cancer susceptibility gene BRCA2 / Nature 378:789~792
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
Schorge JO / 2000 / BRCA1-related papillary serous carcinoma of the peritoneum has a unique molecular pathogenesis / Cancer Res 60:1361~1364
Miki Y / 1994 / A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 / Science 266:66~71
Wooster R / 1995 / Identification of the breast cancer susceptibility gene BRCA2 / Nature 378:789~792
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
Schorge JO / 2000 / BRCA1-related papillary serous carcinoma of the peritoneum has a unique molecular pathogenesis / Cancer Res 60:1361~1364
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Practice guidelines for management of ovarian cancer in Korea: a Korean Society of Gynecologic Oncology Consensus Statement
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Comparison of Clinical Outcomes of BRCA1/2 Pathologic Mutation, Variants of Unknown Significance, or Wild Type Epithelial Ovarian Cancer Patients
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Prevalence and oncologic outcomes of BRCA1/2 mutation and variant of unknown significance in epithelial ovarian carcinoma patients in Korea
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Self-Concept and Psychosocial Well-Being among Korean Women with BRCA1/2 Gene Mutations
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Obstetrics & Gynecology Science
2020 .01
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The Novel Pathogenic Mutation c.849dupT in BRCA2 Contributes to the Nonsense-Mediated mRNA Decay of BRCA2 in Familial Breast Cancer
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BRCA1/2 mutation status in patients with metachronous breast and ovarian malignancies: clues towards the implementation of genetic counseling
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Self-concept and Psychosocial Well-being in Women with BRCA1/2 Gene Mutation
성인간호학회 학술대회
2021 .08
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Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2
Cancer Research and Treatment
2018 .01
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Erratum: Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube
Journal of Gynecologic Oncology
2018 .01
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[Breast] Characteristics of Germline BRCA1 and BRCA2 Mutation Carriers and Non-Carriers among High-Risk Breast Cancer Patients
대한외과학회 학술대회 초록집
2022 .11
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Germline and Somatic BRCA1/2 Gene Mutational Status and Clinical Outcomes in Epithelial Peritoneal, Ovarian, and Fallopian Tube Cancer: Over a Decade of Experience in a Single Institution in Korea
Cancer Research and Treatment
2020 .01
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Expression of DNA Damage Response Proteins and Associations with Clinicopathologic Characteristics in Chinese Familial Breast Cancer Patients with BRCA1/2 Mutations
Journal of Breast Cancer
2018 .01
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Founder BRCA1 mutations in Nepalese population
Journal of Pathology and Translational Medicine
2022 .07
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Clinically Significant Unclassified Variants in BRCA1 and BRCA2 Genes among Korean Breast Cancer Patients
Cancer Research and Treatment
2017 .07
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Clinicopathological Features of Patients with the BRCA1 c.5339T>C (p.Leu1780Pro) Variant
Cancer Research and Treatment
2020 .01
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BRCA1-mutated ovarian cancer with skin metastasis: a case report
Obstetrics & Gynecology Science
2017 .01
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Novel Germline Mutation of BRCA1 Gene in a 56-Year-Old Woman with Breast Cancer, Ovarian Cancer, and Diffuse Large B-Cell Lymphoma
Cancer Research and Treatment
2015 .01
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