| 47 |
7 (14.9%) |
HBOC patients |
All coding regions of BRCA1
|
Lourenço, 2004 |
| 31 |
4 (9.6%) |
HBOC patients |
BRCA1 exons 2, 3, 5, 11 and 20 and BRCA2 exons 10 and 11 |
Dufloth, 2005 |
| 402 |
9 (2.3%) |
BC, irrespective to age or family history |
Four common alterations in BRCA1 and BRCA2 (185delAG, 5382insC and exon 13 6kb duplication in BRCA1 and 6174delT in BRCA2 |
Gomes, 2007 |
| 612 |
21 (3.4%) |
HBOC patients |
BRCA1 exon 11 and BRCA2 exons 10 and 11 and specific founder mutations |
Esteves, 2009 |
| 137 |
7 (5%) |
non-Ashkenazyi HBOC patients |
BRCA1 exon 2 (c.68_69del mutation), exon 20 (c.5266dup mutation) and BRCA2 exon 11 (c.5946del mutation). |
Ewald, 2011 |
| 255 |
3 (1.2%) |
Askenazi-jews unselected for family history of cancer |
BRCA1 185delAG, BRCA1 5382insC and BRCA2 6174delT |
Dillenburg, 2012 |
| 54 |
11 (20.4%) |
BC <35years, irrespective to family history |
All coding regions of BRCA1 and BRCA2
|
Carraro, 2013 |
| 106 |
9 (8.5%) |
HBOC patients |
All coding regions of BRCA1 and common founder mutations in the BRCA2 |
Felix, 2014 |
| 120 |
27 (22.5%) |
HBOC patients |
BRCA1/BRCA2 point mutations and rearrangements |
Silva, 2014 |
| 616 |
0 (0%) |
513 cancer-free patients and 103 OC patients |
BRCA1 (c.68_69delAG, c.5266dupC, c.181T>G, c.4034delA, c.5123C>A) and BRCA2 (c.5946delT, c.8537_8538delAG, 4936_4939delGAAA, c.156_157insAlu) |
Schayek,2015 |
| 349 |
75 (21.5%) |
HBOC patients |
All coding regions of BRCA1 and BRCA2 |
Present study |
