result interpretation and reporting, as well as genetic counseling. Through multidisciplinary discussions and Delphi questionnaire survey "expert consensus on population-basedBRCAgermline mutation screening in China (2024 edition)" w...
testing in the population, including screening scenarios, technical approaches, quality control, result interpretation and reporting, as well as genetic counseling. Through multidisciplinary discussions and Delphi questionnaire survey "expert consensus on population-based BRCA germline mutation screening in China...
Gene, 512, 232-236. http://dx.doi.org/10.1016/j.gene.2012.10.045Sevilla C, Moatti JP, Julian-Reyner C, Eisinger F, Stoppa-Lyonnet D, Bressac-de Paillerets B, et al. Testing for BRCA1 mutations: a cost effectiveness analysis. Eur J Hum Genet 2002;10:599 - 606....
检索时限起始于1990年1月,截至2023年8月,英文文献检索词主要包括BRCA1/2、hereditary breast cancer、hereditary ovarian cancer、germline mutation、screening test、population screening、BRCAscreening、cancer risk assessment、cancer susceptibility、genome sequencing、variant classification、genetic counseling、quality...
作者: KK Lim,SY Yoon,NA Mohd Taib,FH Shabaruddin,M Dahlui,YL Woo,MK Thong,SH Teo,N Chaiyakunapruk 展开 摘要: Objective Previous studies showed that offering BRCA mutation testing to population subgroups at high risk of harbouring the mutation may be cost effective, yet no evidence is...
Indications for increased risk of having a genetic mutation associated with breast cancer is shown in Box 1. There is a cost related to testing and a cost related to the preventive approaches. Therefore, in low-income countries the appropriate counseling is not offered to the patients [71]. ...
mutation type was frameshift mutation (14/32, 43.8%), followed by nonsense mutations (10/32, 31.3%), missense mutations (6/32, 18.8%), and intron mutations (2/32, 6.3%) (Fig.1C). Frameshift mutation and nonsense mutation at any location ofBRCA1will make theBRCA1gene unable to ...
DISCUSSION The results of this analysis indicate that if a population-wide screening program were implemented at a cost of $460 per gene test in the current cohort of American Ashkenazi Jewish fe- males aged 35–55 years, which numbers about 0.96 million women, then 2,811 ovarian cancers ...
and this implies not just extra cost but also considerable anxiety for the women concerned. Dr. Kamm and colleagues outlined the results for 196 women withBRCAgene mutations who had been screened between 1999 and 2005. The women were screened for a median period of 2 years, and in total und...
Mutation nomenclature was described according to Human Genome Variation Society [20]. Pathogenicity of the mutations was assessed using the following databases: the Breast Cancer Information Core [21], the Universal Mutation Database [22] for BRCA1 and BRCA2, and ClinVar at NCBI [23]. For ...