AUTHOR=Djursby Malene , Madsen Majbritt B. , Frederiksen Jane H. , Berchtold Lukas A. , Therkildsen Christina , Willemoe Gro L. , Hasselby Jane P. , Wikman Friedrik , Okkels Henrik , Skytte Anne-Bine , Nilbert Mef , Wadt Karin , Gerdes Anne-Marie , van Overeem Hansen Thomas TITLE=New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients JOURNAL=Frontiers in Genetics VOLUME=11 YEAR=2020 URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2020.566266 DOI=10.3389/fgene.2020.566266 ISSN=1664-8021 ABSTRACT=
A genetic diagnosis facilitates personalized cancer treatment and clinical care of relatives at risk, however, although 25% of colorectal cancer cases are familial, around 95% of the families are genetically unresolved. In this study, we performed gene panel analysis on germline DNA of 32 established or candidate colorectal cancer predisposing genes in 149 individuals from either families with an accumulation of colorectal cancers or families with only one sporadic case of very early onset colorectal cancer (≤40 years at diagnosis). We identified pathogenic or likely pathogenic genetic variants in 10.1% of the participants in genes such as