(b) Western blot demonstrating that BRCA1- mutant (red) cell lines express full-length 53BP1 protein, but not BRCA1. (c) Quantification of 53BP1 protein expression for select cell lines. Individual normalized band intensity values in arbitrary units (A.U.) from three independent experiments ...
1Department of Anatomy, University of Ghana Medical School, University of Ghana, Accra, Ghana,2West African Center for Cell Biology of Infectious Pathogens, University of Ghana, Legon, Accra, Ghana,3Department of Surgery, University of Ghana Medical School, University of Ghana, Accra, Ghana,Depart...
Cancers were confirmed after central medical record review. Blood samples, which were collected at entry, were analyzed for BRCA1 promoter methylation by massive parallel sequencing. The study was performed in the Mohn Cancer Research Laboratory (Bergen, Norway) between 2019 and 2022. Main Outcomes ...
Medical record review was carried out by 3 clinicians (K.M., D.M.L., and M.F.M.) independently and then jointly to determine the cancer diagnosis and cause of death (eTable 3 in the Supplement). Statistical Analysis Data were summarized using means and ranges for continuous variables as...
Abraxas and RAP80 form a BRCA1 protein complex required for the DNA damage response. Science 316, 1194–1198 (2007). Article CAS Google Scholar Doil, C. et al. RNF168 binds and amplifies ubiquitin conjugates on damaged chromosomes to allow accumulation of repair proteins. Cell 136, 435–...
These clinics were chosen because they are the largest centers in terms of numbers of cases and performed genetic testing and they are spread throughout Germany. Eligibility criteria {10} Women aged 25–60 years with diagnosed, clearly pathogenic BRCA1/2 mutations and sufficient knowledge of ...
Full size image Correlation between molecular phenotypes and clinical severity of variants The number of possible variants over a large gene such as BRCA1 is in the tens of thousands. However, only about 50 BRCA1 missense variants are clearly documented in the literature as pathogenic. There is ...
© American College of Medical Genetics and Genomics Original Research Article Cigarette smoking in women after BRCA1/2 genetic test disclosure: a 5-year follow-up study of the GENEPSO PS cohort Claire Julian-Reynier, MD, MSc1–3, Noémie Resseguier, MD, PhD2,3, Anne-Deborah...
Full size image The survival association was specific to women with ER-negative breast cancer, since in the analysis of allBRCA1carriers the HR was attenuated (HR: 2.12, 95% CI: 1.55–2.91, Supplementary Fig.1) and not seen in those with ER-positive breast cancer (n: 476, HR: 0.52, ...
Similarly 15/50 (30%) BRCA2 mutations were detected outside exons 10 and 11. View this table: In this window In a new window Table 1 Mutations in BRCA1/2 outside the commonly screened exons in the UK … [Full text of this article] ...