Journal of medical genetics
Multicentre audit reviewing reporting and management of patients with incidentally identified structural aberrations involving high actionability cancer susceptibility genes.
Kate Richardson, Emma Douglas, Nour Elkhateeb, Laura Furness, Abigail Green, Elizabeth Harris, Rachel Hart, Verity Hartill, Monisha Shanmugasundaram, Alison Stewart, Olga Tsoulaki, Anna Wilsdon, Genetics Research and Audit Collaborative (GRAC)
Published: 202510.1136/jmg-2025-110826
Abstract
A structural aberration (SA) with secondary implications (SASIs) involving a cancer susceptibility gene is identified on chromosome microarray in approximately 0.6% tests performed on index cases. Identifying a SASI involving a high actionability can…
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