Table 1.
Selected FA samples with mutations previously identified by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA), used for validation of the next-generation sequencing approach.
| Sample (affected gene) | Allele 1 | Allele 2 | Reference |
|---|---|---|---|
| Sam 1 (BRCA2) | c.9253dupA | — | BIC DB# |
| Sam 2 (FANCA) | c.3558insG | — | [4] |
| Sam 3 (FANCG) | c.271–272del | c.620delT | [4] |
| Sam 4a (FANCA) | c.1464C>G | c.2632G>C | [4] |
| Sam 4b (FANCA) | Ex 15–23 del | — | [4] |
| Sam 5 (BRCA1) | c.2694dupA | — | BIC DB# |
| Sam 6 (FANCC) | c.376–377del | c.844-1G>C | [4] |
| Sam 7 (FANCA) | Ex 1–20 del | c.893+920 C>A | [5] |
| Sam 8 (FANCB) | c.811insT | absent | [4] |
| Sam 9 (FANCE) | c.91C>T | c.91C>T | [4] |
| Sam 10 (PALB2) | Ex 1–10 del | c.1802T>A | [6] |
| Sam 11 (FANCI) | c.2509G>T | NF* | [4] |
#Breast cancer information core database available at http://www.research.nhgri.nih.gov/bic/.
*NF: not found.