The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations.

Inbal Barnes-KedarRinat Bernstein-MolhoNava GinzachShulamit HartmajerTamar ShapiraNurit MagalMarina Lifshitc KalisTamar PeretzMordechai ShohatLina Basel-SalmonEitan FriedmanLily BazakYael Goldberg

Published in: Breast cancer research and treatment (2018)

The overall yield of comprehensive BRCA1/2 testing in ethnically diverse high-risk Israeli individuals is 3.3%. This is lower than expected by probability models. A slightly higher rate of BRCA1/2 carriers was seen among ovarian cancer cases. These data should guide BRCA1/2 optimal testing strategy in Israel.

Keyphrases

breast cancer risk
electronic health record
genome wide
big data
gene expression
dna methylation
deep learning
data analysis