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.
이용수
초록· 키워드
오류제보하기
Breast cancer is the second most common cancer in Korean women. Germline mutations in the BRCA1 and BRCA2 genes cause hereditary breast cancer and are detected in 15-20% of hereditary breast cancer. We investigated the BRCA1 and BRCA2 mutations in 114 familial breast cancer patients using next-generation sequencing. We confirmed 20 different mutations of BRCA1 and BRCA2 in 25 subjects (21.9%). Two such mutations in eight patients were novel (not reported in any variant database or previous study). Six mutations have been reported as disease-causing mutations in public databases. Seven mutations were found only in a single nucleotide polymorphism database and one mutation has been reported in Korea. The BRCA1/2 mutation frequency was similar to that of other studies on familial breast cancer patients in the Korean population. Further studies should examine more cases and mutations of whole exons.
목차
등록된 정보가 없습니다.
참고문헌 (30)
참고문헌 신청
권순석 / 2018 / Updates on cancer epidemiology in Korea, 2018 / 전남의대학술지 54(2):90~100
민선영 / 2016 / The Basic Facts of Korean Breast Cancer in 2013: Results of a Nationwide Survey and Breast Cancer Registry Database / Journal of Breast Cancer 19(1):1~7
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
Hall MJ / 2009 / BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer / Cancer 115:2222~2233
민선영 / 2016 / The Basic Facts of Korean Breast Cancer in 2013: Results of a Nationwide Survey and Breast Cancer Registry Database / Journal of Breast Cancer 19(1):1~7
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
Hall MJ / 2009 / BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer / Cancer 115:2222~2233
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
The Novel Pathogenic Mutation c.849dupT in BRCA2 Contributes to the Nonsense-Mediated mRNA Decay of BRCA2 in Familial Breast Cancer
Journal of Breast Cancer
2018 .01
-
BRCA1 and BRCA2 Common Mutations in Iranian Breast Cancer Patients: a Meta Analysis
Asian Pacific journal of cancer prevention : APJCP
2015 .01
-
Comparison of Clinical Outcomes of BRCA1/2 Pathologic Mutation, Variants of Unknown Significance, or Wild Type Epithelial Ovarian Cancer Patients
Cancer Research and Treatment
2017 .01
-
Self-Concept and Psychosocial Well-Being among Korean Women with BRCA1/2 Gene Mutations
Asian Oncology Nursing
2022 .03
-
Founder BRCA1 mutations in Nepalese population
Journal of Pathology and Translational Medicine
2022 .07
-
Screening for Del 185 AG and 4627C>A BRCA1 Mutations in Breast Cancer Patients from Lahore, Pakistan
Asian Pacific journal of cancer prevention : APJCP
2016 .01
-
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
-
Screening of BRCA1/2 Mutations Using Direct Sequencing in Indonesian Familial Breast Cancer Cases
Asian Pacific journal of cancer prevention : APJCP
2016 .01
-
BRCA1/2 mutation status in patients with metachronous breast and ovarian malignancies: clues towards the implementation of genetic counseling
Journal of Gynecologic Oncology
2020 .01
-
Genomic Signatures from Clinical Tumor Sequencing in Patients with Breast Cancer Having Germline BRCA1/2 Mutation
Cancer Research and Treatment
2023 .01
-
[Breast] Characteristics of Germline BRCA1 and BRCA2 Mutation Carriers and Non-Carriers among High-Risk Breast Cancer Patients
대한외과학회 학술대회 초록집
2022 .11
-
Mutation Spectra of BRCA Genes in Iranian Women with Early Onset Breast Cancer - 15 Years Experience
Asian Pacific journal of cancer prevention : APJCP
2016 .01
-
Prevalence and oncologic outcomes of BRCA1/2 mutation and variant of unknown significance in epithelial ovarian carcinoma patients in Korea
Obstetrics & Gynecology Science
2019 .01
-
BRCA1 Mutation is Strongly Associated with a Phosphorylation of S6 Kinase-1 in Breast Cancer Patients
대한임상종양학회 학술대회지
2016 .02
-
Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test
Cancer Research and Treatment
2020 .01
-
Self-concept and Psychosocial Well-being in Women with BRCA1/2 Gene Mutation
성인간호학회 학술대회
2021 .08
-
A Pilot Study on Screening of BRCA1 Mutations (185delAG, 1294del40) in Nepalese Breast Cancer Patients
Asian Pacific journal of cancer prevention : APJCP
2016 .01
-
Bilateral Triple-Negative Invasive Breast Cancer with a BRCA2 Mutation, and Glioblastoma: A Case Report and Literature Review
Journal of Breast Cancer
2017 .01
-
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
-
Prevalence of tumor BRCA1 and BRCA2 dysfunction in unselected patients with ovarian cancer
Obstetrics & Gynecology Science
2020 .01
이 논문의 저자 정보
최근 본 자료
댓글(0)
0