Table 5.
Summary of Published BRCA Gene Sequence Variant Spliceogenicity Assay Results
| No aberration | Aberration | Percentage with aberration (95% CI) | |
|---|---|---|---|
| Acceptor variants | |||
| High | 0 | 43 | 100.0 (88.0–100.0)a |
| Moderate | 17 | 13 | 43.3 (25.5–62.6) |
| Minimal or improved | 18 | 1 | 5.3 (0.1–26.0) |
| Donor variants | |||
| High | 2 | 67 | 97.1 (89.9–99.6) |
| Moderate | 5 | 34 | 87.2 (72.6–95.7) |
| Minimal or improved | 7 | 1 | 12.5 (0.3–52.7) |
| Combined donor and acceptor variants | |||
| High | 2 | 110 | 98.2 (93.7–99.8) |
| Moderate | 22 | 47 | 68.1 (55.8–78.8) |
| Minimal or improved | 25 | 2b | 7.4 (0.9–24.3) |
| De novo donor variants | |||
| Increased | 4 | 9 | 69.2 (38.6–90.9) |
| Moderate | 2 | 2 | 50.0 (6.8–93.2) |
| Weak/null and low | 187 | 35 | 15.8 (11.2–21.2) |
Added one discordant observation in order to estimate a 95% confidence interval.
One of the variants in this category, BRCA1 c.591C>T, is IARC class 1, neutral [Dosil et al., 2010; de la Hoya et al, submitted].
[Friedman et al., 1994, 1995; Gayther et al., 1995; Petrij‐Bosch et al., 1997; Xu et al., 1997; Hoffman et al., 1998; Mazoyer et al., 1998; Fetzer et al., 1999; Ozcelik et al., 1999; Pyne et al., 1999; Santarosa et al., 1999; Scholl et al., 1999; Hartikainen et al., 2000; Pyne et al., 2000; Laskie Ostrow et al., 2001; Vega et al., 2001; Claes et al., 2002; Fackenthal et al., 2002; Howlett et al., 2002; Krajc et al., 2002; Meindl, 2002; Agata et al., 2003; Claes et al., 2003; Campos et al., 2003; Hofmann et al., 2003; Keaton et al., 2003; Yang et al., 2003; Brose et al., 2004; Sharp et al., 2004; Tesoriero et al., 2005; Bonatti et al., 2006; Chen et al., 2006; Chenevix‐Trench et al., 2006; Beristain et al., 2007; Ang et al., 2007; Anczukow et al., 2008; Bonnet et al., 2008; Farrugia et al., 2008; Goina et al., 2008; Kwong et al., 2008; Machackova et al., 2008; Spearman et al., 2008; Caux‐Moncoutier et al., 2009; Gutierrez‐Enriquez et al., 2009; Li et al., 2009; Vreeswijk et al., 2009; Willems et al., 2009; Dosil et al., 2010; Gaildrat et al., 2010; Hansen et al., 2010; Rouleau et al., 2010; Sanz et al., 2010; Steffensen et al., 2010; Walker et al., 2010; Whiley et al., 2010; Brandao et al., 2011; Thery et al., 2011; Whiley et al., 2011; Zhang et al., 2011; Acedo et al., 2012; Gaildrat et al., 2012; Houdayer et al., 2012; Joose et al. 2012; Menendez et al., 2012; Thomassen et al., 2012; Wappenschmidt et al., 2012; Colombo et al., 2013; Di Giacomo et al., 2013; Parsons et al., 2013; de Garibay et al., 2014; Santos et al., 2014; Whiley et al., 2014a; Acedo et al., 2015; Ahlborn et al., 2015].