New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing

摘要: Targeted PCR-based genetic testing for BRCA1 and BRCA2 can be performed at a lower cost than full gene testing; however, it may overlook mutations responsible familial breast and/or ovarian cancers. In the present study, we report utility of next generation sequencing (NGS) to identify new pathogenic variants BRCA1/2. exons were amplified using Ion AmpliSeq BRCA1/2 Panel sequenced on Torrent PGM sequencer in 512 women with only early onset cancers who negative selected mutations. 146 single nucleotide (SNVs) 32 indels identified. Of them, 14 SNVs 17 considered as or likely pathogenic. One 18 had been detected previously Polish other populations, respectively, 12 deleterious unknown. Eight recurrent; Q563X (BRCA1), N3124I (BRCA2) c.4516delG (BRCA1) found eight, six four patients, two (c.9118-2A > G c.7249delCA BRCA2) three patients each. Altogether, identified 52 out (10%) patients. NGS substantially improved detection rates wide spectrum cancer. Although targeted screening specific offered all cancer NGS-based is justified related test