“…For example, the analysis of mutations related to breast cancer risk would include BRCA1, BRCA2, PALB2, TP53, CHEK2, ATM, NBS/NBN, BLM, PTEN, MRE11, BRIP1, BARD1, RAD50, RAD51C, RAD51D, RECQL, FANCC, FANCM and perhaps some other genes (Sokolenko et al, 2012; Thompson et al, 2012; Kiiski et al, 2014; Kurian et al, 2014; Cybulski et al, 2015; Easton et al, 2015). Similarly, genetic testing for HNPCC requires the analysis of MLH1, MSH2, MSH6, PMS2 , and EPCAM coding sequences, while the panel for diagnosis of colon polyposis would involve APC, MUTYH, NTHL1, POLE, POLD1, SMAD4, BMPR1A, STK11 , and MSH3 (Weren et al, 2015; Adam et al, 2016; Bellido et al, 2016; Kanth et al, 2017). Valid conclusions on the lack of causative mutation cannot be made solely on the basis of Sanger sequencing; it is often somehow overlooked, that many germ-line mutations are represented by large gene rearrangements (LGRs), which require distinct diagnostic platforms, e.g., multiplex ligation-dependent probe amplification (MLPA) or droplet digital PCR (ddPCR) (Ewald et al, 2009; Sluiter and van Rensburg, 2011; Preobrazhenskaya et al, 2017).…”