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
- 2015.1
- 수록면
- 97 - 100 (4page)
이용수
초록· 키워드
오류제보하기
Neurofibromatosis type 1 (NF1), which may occur as an autosomaldominant disorder, is caused by the absence of neurofibrominprotein due to somatic mutations in the NF1 gene, and it hasbeen associated with an increased risk of breast cancer. Hereinwe describe a family with two women affected by both NF1 andearly-onset breast cancer. We evaluated whether the concomitanceof NF1 and early-onset breast cancer could be due to disease-causing mutations in both NF1 and BRCA1 gene in a Koreanfamily with clinical features of both NF1 and hereditarybreast cancer. Mutation analyses identified nonsense mutationsin NF1 and BRCA1 genes. Our findings indicate that an awarenessof the possible concomitance of NF1 and BRCA1 genemutations is important for identifying the genetic origin of earlyonsetbreast cancer in patients with NF1 to achieve early detectionof cancers and decrease breast cancer-associated morbidityand mortality in these patients.
목차
등록된 정보가 없습니다.
참고문헌 (13)
참고문헌 신청
Rasmussen SA / 2000 / NF1 gene and neurofibromatosis 1 / Am J Epidemiol 151:33~40
Evans DG / 2010 / Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service / Am J Med Genet A 152A:327~332
Korf BR / 2000 / Malignancy in neurofibromatosis type 1 / Oncologist 5:477~485
Walker L / 2006 / A prospective study of neurofibromatosis type 1 cancer incidence in the UK / Br J Cancer 95:233~238
Brems H / 2009 / Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1 / Lancet Oncol 10:508~515
Evans DG / 2010 / Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service / Am J Med Genet A 152A:327~332
Korf BR / 2000 / Malignancy in neurofibromatosis type 1 / Oncologist 5:477~485
Walker L / 2006 / A prospective study of neurofibromatosis type 1 cancer incidence in the UK / Br J Cancer 95:233~238
Brems H / 2009 / Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1 / Lancet Oncol 10:508~515
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
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
-
The Spectrum of Genetic Mutations in Breast Cancer
Asian Pacific journal of cancer prevention : APJCP
2015 .01
-
Clinicopathological characteristics of BRCA-associated breast cancer in Asian patients
Journal of Pathology and Translational Medicine
2020 .01
-
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
-
제1형 신경섬유종증 가족에서 발견된 NF1 유전자 변이와 임상양상
대한내과학회지
2016 .01
-
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
-
Endometrial cancer occurence five years after breast cancer in BRCA2 mutation patient
Obstetrics & Gynecology Science
2015 .01
-
[Breast] Characteristics of Germline BRCA1 and BRCA2 Mutation Carriers and Non-Carriers among High-Risk Breast Cancer Patients
대한외과학회 학술대회 초록집
2022 .11
-
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
-
Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients
전남의대학술지
2019 .01
-
Screening of BRCA1/2 Mutations Using Direct Sequencing in Indonesian Familial Breast Cancer Cases
Asian Pacific journal of cancer prevention : APJCP
2016 .01
-
Comment on: Endometrial cancer occurrence five years after breast cancer in BRCA2 mutation patient
Obstetrics & Gynecology Science
2015 .01
-
Self-Concept and Psychosocial Well-Being among Korean Women with BRCA1/2 Gene Mutations
Asian Oncology Nursing
2022 .03
-
BRCA1 and BRCA2 Common Mutations in Iranian Breast Cancer Patients: a Meta Analysis
Asian Pacific journal of cancer prevention : APJCP
2015 .01
-
BRCA1 Mutation is Strongly Associated with a Phosphorylation of S6 Kinase-1 in Breast Cancer Patients
대한임상종양학회 학술대회지
2016 .02
-
Absence of 185delAG and 6174delT Mutations among Breast Cancer Patients of Eastern India
Asian Pacific journal of cancer prevention : APJCP
2015 .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
-
Bilateral Triple-Negative Invasive Breast Cancer with a BRCA2 Mutation, and Glioblastoma: A Case Report and Literature Review
Journal of Breast Cancer
2017 .01
-
BRCA1/BRCA2 Pathogenic Variant Breast Cancer: Treatment and Prevention Strategies
Annals of Laboratory Medicine
2020 .01
-
Genomic Signatures from Clinical Tumor Sequencing in Patients with Breast Cancer Having Germline BRCA1/2 Mutation
Cancer Research and Treatment
2023 .01
이 논문의 저자 정보
최근 본 자료
댓글(0)
0