Article
BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.
Human mutation - 1 Dec 2018
Burke Leslie J, Sevcik Jan, Gambino Gaetana, Tudini Emma, Mucaki Eliseos J, Shirley Ben C, Whiley Phillip, Parsons Michael T, De Leeneer Kim, Gutiérrez-Enríquez Sara, Santamariña Marta, Caputo Sandrine M, Santana Dos Santos Elizabeth, Soukupova Jana, Janatova Marketa, Zemankova Petra, Lhotova Klara, Stolarova Lenka, Borecka Mariana, Moles-Fernández Alejandro, Manoukian Siranoush, Bonanni Bernardo, Edwards Stacey L, Blok Marinus J, van Overeem Hansen Thomas, Rossing Maria, Diez Orland, Vega Ana, Claes Kathleen B M, Goldgar David E, Rouleau Etienne, Radice Paolo, Peterlongo Paolo, Rogan Peter K, Caligo Maria, Spurdle Amanda B, Brown Melissa A
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.