Table 1.
C-terminal BRCA2 truncation mutations
| Nucleotide change* | Termination codon† | Ref(s).‡ |
|---|---|---|
| 6174delT | 2003 | 40–42 |
| 6299delA | 2039 | 40 |
| 6503delTT | 2098 | 42–45 |
| 6601delA | 2136 | 19 |
| 6630delTAACT | 2137 | 44 |
| 6635delTAAAT | 2137 | 19 |
| 6690delTC | 2174 | 44 |
| 6696delTC§ | 2174 | 46 |
| 6819delTG | 2201 | 44, 45 |
| 7057delCTTAT | 2290 | 44 |
| 7231delTTTCG | 2337 | 45 |
| 7253delAA | 2358 | 47 |
| 7786C→T | 2520 | 19 |
| 7989delC | 2647 | 40 |
| 8138delCCTTT | 2638 | 44 |
| 8162delG | 2645 | 44 |
| 8525delC | 2776 | 41 |
| 8535delAG | 2780 | 48 |
| 8664insA | 2819 | 40 |
| 8702delC | 2862 | 19 |
| 9179C→G | 2984 | 44 |
| 9208ins4 | 2994 or 3018¶ | 44 |
| 9254delATCAT | 3015 | 41, 42 |
| 9326insA | 3043 | 42, 43 |
| 9433delGT | 3170 | 48 |
| 9636delT | 3162 | 19, 43 |
| 9654delTT | 3148 | 49 |
| 9808delCC | 3195 | 19 |
*
The nucleotide positions are based on the GenBank entry of BRCA2 (accession no. U43746).
†Natural termination occurs at codon 3419.
‡ For space reasons, this reference list is not comprehensive. Most of the mutations in this table are also listed in the Breast Cancer Information Core (BIC) database (18). The BIC database also contains other mutations that are not published elsewhere and are not listed above.
§Mutation reported as 6697delTC, but TC sequence begins at position 6696.
¶ Termination codon depends upon inserted bases, the sequence of which was not given.