Ontology highlight
ABSTRACT:
SUBMITTER: Burke LJ
PROVIDER: S-EPMC6282814 | biostudies-literature | 2018 Dec
REPOSITORIES: biostudies-literature
Burke Leslie J LJ Sevcik Jan J Gambino Gaetana G Tudini Emma E Mucaki Eliseos J EJ Shirley Ben C BC Whiley Phillip P Parsons Michael T MT De Leeneer Kim K Gutiérrez-Enríquez Sara S Santamariña Marta M Caputo Sandrine M SM Santana Dos Santos Elizabeth E Soukupova Jana J Janatova Marketa M Zemankova Petra P Lhotova Klara K Stolarova Lenka L Borecka Mariana M Moles-Fernández Alejandro A Manoukian Siranoush S Bonanni Bernardo B Edwards Stacey L SL Blok Marinus J MJ van Overeem Hansen Thomas T Rossing Maria M Diez Orland O Vega Ana A Claes Kathleen B M KBM Goldgar David E DE Rouleau Etienne E Radice Paolo P Peterlongo Paolo P Rogan Peter K PK Caligo Maria M Spurdle Amanda B AB Brown Melissa A MA
Human mutation 20180924 12
The widespread use of next generation sequencing for clinical testing is detecting an escalating number of variants in noncoding regions of the genome. The clinical significance of the majority of these variants is currently unknown, which presents a significant clinical challenge. We have screened over 6,000 early-onset and/or familial breast cancer (BC) cases collected by the ENIGMA consortium for sequence variants in the 5' noncoding regions of BC susceptibility genes BRCA1 and BRCA2, and ide ...[more]