Although the present study detected germline mutations in these DDR pathways, a higher number of genes were identified which were involved in the FA pathway compared with the previous studies, such as FANCD2, FANCA, FANCG, FANCL, and SLX4. The identification of a wider causative mutation in bowel cancer has implications that can apply to genetic counseling practices that are of vital importance for the family under investigation (Wells and Wise, 2017). Here, FANCD2 is linked to Friedreich ataxia.