Extended gene panel testing in lobular breast cancer.

Elke Maria van Veen Dafydd Gareth EvansElaine F HarknessHelen J ByersJamie M EllingfordEmma R WoodwardNaomi L BowersAndrew J WallaceSacha J HowellAnthony HowellFiona LallooWilliam G Newman Miriam Jane Smith

Published in: Familial cancer (2021)

The overall PGV detection rate was 11.59%, with similar rates of BRCA1/2 (7.28%) PGVs as for other actionable PGVs (7.46%), indicating a benefit for extended panel genetic testing in LBC. We also report a previously unrecognised association of pathogenic variants in ATM with LBC.

Keyphrases

copy number
dna damage
genome wide
breast cancer risk
loop mediated isothermal amplification
real time pcr
dna damage response
gene expression