PMC:4910552 / 32809-33604 JSONTXT

{"project":"2_test","denotations":[{"id":"27223485-24884479-44128568","span":{"begin":654,"end":658},"obj":"24884479"},{"id":"27223485-9354803-44128569","span":{"begin":789,"end":793},"obj":"9354803"}],"text":"The negative findings of gene rearrangements in BRCA1 and BRCA2 could also be related to small sample size and, again, to the large variability of rearrangement prevalence. One complicating factor is that the knowledge about prevalence of such rearrangements in South American HBOC patients is limited and studies in other populations report a highly variable prevalence of such rearrangements. A Brazilian study conducted with 120 women fulfilling criteria for HBOC and screened for mutations, CNVs and rearrangements in BRCA and other genes found rearrangements of BRCA1 in only two cases (exon 24 amplification and exon 16-17 deletion) (Silva et al., 2014). In the Dutch, for example, large genomic rearrangements constitute 36% of the mutations detected in BRCA1 (Petrij-Bosch et al., 1997)."}