Open AccessCancer genetics—one family at a time
Author(s) -
William D. Foulkes
Publication year - 2019
Publication title -
clinical and investigative medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.391
H-Index - 47
eISSN - 1488-2353
pISSN - 0147-958X
DOI - 10.25011/cim.v42i4.33344
Subject(s) - germline , palb2 , li–fraumeni syndrome , germline mutation , medicine , genetics , biology , mutation , gene
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.