Cargando…
Strong evidence that the common variant S384F in BRCA2 has no pathogenic relevance in hereditary breast cancer
INTRODUCTION: Unclassified variants (UVs) of unknown clinical significance are frequently detected in the BRCA2 gene. In this study, we have investigated the potential pathogenic relevance of the recurrent UV S384F (BRCA2, exon 10). METHODS: For co-segregation, four women from a large kindred (BN326...
Autores principales: | Wappenschmidt, B, Fimmers, R, Rhiem, K, Brosig, M, Wardelmann, E, Meindl, A, Arnold, N, Mallmann, P, Schmutzler, RK |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2005
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1242149/ https://www.ncbi.nlm.nih.gov/pubmed/16168123 http://dx.doi.org/10.1186/bcr1291 |
Ejemplares similares
-
Haplotype analysis in German families with recurrent BRCA1 and BRCA2 mutations
por: Wappenschmidt, B, et al.
Publicado: (2001) -
Analysis of 30 Putative BRCA1 Splicing Mutations in Hereditary Breast and Ovarian Cancer Families Identifies Exonic Splice Site Mutations That Escape In Silico Prediction
por: Wappenschmidt, Barbara, et al.
Publicado: (2012) -
Non-small cell neuroendocrine carcinoma of the ovary in a BRCA2-germline mutation carrier: A case report and brief review of the literature
por: Herold, Natalie, et al.
Publicado: (2018) -
Satisfaction and Quality of Life of Healthy and Unilateral Diseased BRCA1/2 Pathogenic Variant Carriers after Risk-Reducing Mastectomy and Reconstruction Using the BREAST-Q Questionnaire
por: Herold, Natalie, et al.
Publicado: (2022) -
Prevalence of
BRCA1
and
BRCA2
Mutations in Patients with Primary Ovarian Cancer – Does the German Checklist for Detecting the Risk of Hereditary Breast and Ovarian Cancer Adequately Depict the Need for Consultation?
por: Ataseven, Beyhan, et al.
Publicado: (2020)