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Table 5 Example of multilevel genetic testing workflow that led to identification of BRCA1 C1501X mutation in multiple family members during conducting this study

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

Testing round Testing workflow Methods Results
I Targeted screening using PCR-based technology TaqMan SNP Genotyping Assays Negative for selected variants*
II Searching for new pathogenic variants using NGS NGS of BRCA1/BRCA2 exons Pathogenic variant (C1501X) found
III Validation and cascade screening Sanger direct sequencing Validation in the index patient and mutation found in seven out of eight studied relatives #
  1. *Eleven BRCA1 mutations (c.66_67delAG, C61R, c.3700_3704del5, c.3756delGTCT, c.3777delT, c.4035delA, c.4041delAG, c.4065delTCAA, c.5263delC, R1738E and R1751X) and nine BRCA2 mutations (E394X, c.5239insT, c.5946delT, c.5964delAT, c.6447delTA, c.7910del5, c.8924delT, R3128X and c.9402delT) [7,30].
  2. #family tree is depicted in Additional file 2.