Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case-control study.

Omar Alejandro Zayas-VillanuevaLuis Daniel Campos-AcevedoJosé de Jesús Lugo-TrampeDavid Hernández-BarajasJuan Francisco González-GuerreroMaría Fernanda Noriega-IriondoIlse Alejandra Ramírez-SánchezLaura Elia Martínez-de-Villarreal

Published in: BMC cancer (2019)

The detected BRCA1 and BRCA2 PV frequency was similar to that reported in other populations. Our results indicate that clinical data should be evaluated before genetic testing and highly recommend genetic testing in patients with the triple-negative subtype and other clinical aspects.

Keyphrases

breast cancer risk
copy number
electronic health record
gene expression
machine learning
dna methylation