Exome sequencing in 51 early onset non ‐familial CRC cases

ConclusionTwo clear pathogenic variants were identified in patients that had not been identified clinically. Thus, the chance of detecting a hereditary cancer syndrome in patients with CRC at young age but without family history is 2/51 (4%) and therefore the clinical benefit of genetic testing in this patient group is low. Of note, using stringent filtering, we have identified a total of ten candidate heterozygous variants and five possibly biallelic autosomal recessive candidate genes that warrant further study.

Source: Molecular Genetics & Genomic Medicine - February 27, 2019 Category: Genetics & Stem Cells Authors: Jessada Thutkawkorapin, Annika Lindblom, Emma Tham Tags: ORIGINAL ARTICLE Source Type: research