Founder mutationsGenetic testingFounder mutations in the two breast cancer genes,BRCA1andBRCA2, have been described in many populations, among these are Ashkenazi-Jewish, Polish, Norwegian and Icelandic. Founder mutation testing in patients with relevant ancestry has been a cost-efficient approach in ...
11.Talhouet S. De, J. Peron, A. Vuilleumier, et al. Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes. Sci Rep, 10 (1) (2020), p. 7073 12.P.D. Shah, S. Patil, M.N. Dickler, K. Offit, C.A. Hudis, M.E. Robson....
mutations inBRCA2are associated with superior response compared to those inBRCA1. Mutations inBRCA1andBRCA2result in distinct mutational landscapes and differentially modulate the tumor-immune microenvironment, with gene expression programs related to both adaptive and innate immunity enriched inBRCA2-...
Currently, the main indication for tumor analysis is on DNA (BRCA1/2 mutations and HRD status); there is no indication for RNA tumor analysis. The aims of this work were to describe physiological splicing profiles ofB...
The risk of developing cancer is not identical for all carriers of BRCA1 and BRCA2 mutations. Risk can be influenced by allelic heterogeneity, modifier genes, and environmental and hormonal cofactors. Abstract The discovery of the first gene associated with hereditary breast cancer, BRCA1, was ant...
In this scenario, the mutations are not inherited and they do not cluster in families. In hereditary breast cancer, the specific genetic factors involved will determine the inherited cancer risk. Inherited mutations in the BRCA1 or BRCA2 genes have been well-described, but mutations in ATM, ...
BRCA1 and BRCA2 mutations increase breast and ovarian cancer risks substantially enough to warrant risk reduction surgery, despite variable risk estimates. Underlying this variability are methodological issues, and also complex genetic and nongenetic effects. Although many modifying factors are unidentified,...
Germline BRCA1 and BRCA2 mutations in Brazilian ovarian and breast cancer patients [abstract]. In: Proceedings of the AACR International Conference held in cooperation with the Latin American Cooperative Oncology Group (LACOG) on Translational Cancer Medicine; May 4-6, 2017; So Paulo, Brazil. ...
Advanced-stage BRCA-mutated HGOC patients reported PFS benefit from maintenance olaparib and bevacizumab regardless of mutation location. The benefit is particularly high for patients with mutations located in the DBD of BRCA1. Mutations located in the DBD of BRCA2 are also associated with excellent...
Two cancer susceptibility genes, BRCA1 on chromosome 17q12-21 and BRCA2 on chromosome 13q12-13, are thought to be responsible for similar to 80% of families containing multiple cases of early-onset female breast cancer. Germline mutations of BRCA1 are also associated with ovarian cancer and ...