Abstract
This article is a distillation and extension of some of themes I presented as a lecture to the Canadian Society of Clinical Investigation meeting in Banff in 2019. I emphasize the important role that investigation of a few key families seen in our clinic (sometimes as few as one) can play in cancer genetic discovery. I present the work both thematically and chronologically, demonstrating how clinical observation, combined with laboratory work and extensive collaboration can lead to novel insights. I will focus on families possessing germline pathogenic variants in PALB2, DICER1, SMARCA4, FGFR1 and RAD51D as examples of how the process has been carried out in our group.
Publisher
University of Toronto Libraries - UOTL