Table 1 Mutation of BRCA1 and BRCA2 genes in 66 families with evidence of strong genetic predisposition to breast and/or ovarian cancer
Family No. | Exon | Codon | Mutation | Family history of cancer | ||
|---|---|---|---|---|---|---|
breast cancer | Ovarian cancer | other | ||||
BRCA1 | ||||||
4506 | 20 | 1756 | 5382insC | 3 | ||
3311 | 20 | 1756 | 5382insC | 3 | ||
4412 | 20 | 1756 | 5382insC | 3 | ||
1633 | 20 | 1756 | 5382insC | 3 | colon | |
4508 | 20 | 1756 | 5382insC | 2 | 1 | |
3319 | 20 | 1756 | 5382insC | 2 | 1 | |
3088 | 20 | 1756 | 5382insC | 2 | 2 | lymphoma |
3572 | 20 | 1756 | 5382insC | 3 | ||
4545 | 20 | 1756 | 5382insC | 3 | colon, stomach | |
1738 | 20 | 1756 | 5382insC | 4 | 3 | colon |
1582 | 20 | 1756 | 5382insC | 3 | prostate | |
4478 | 20 | 1756 | 5382insC | 3 | ||
1387 | 20 | 1756 | 5382insC | 4 | 1 | colon |
2863 | 20 | 1756 | 5382insC | 4 | 2 | |
4968 | 20 | 1756 | 5382insC | 4 | stomach, CSU, unknown | |
5715 | 20 | 1756 | 5382insC | 3 | ||
5726 | 20 | 1756 | 5382insC | 1 | 2 | |
4030 | 20 | 1756 | 5382insC | 3 | lung, leukaemia | |
1581 | 5 | 61 | C61G | 2 | 2 | CSU, unknown |
1888 | 5 | 61 | C61G | 4 | ||
4859 | 5 | 61 | C61G | 3 | ||
3004 | 5 | 61 | C61G | 7 | ||
4858 | 5 | 61 | C61G | 4 | ||
5850 | 5 | 61 | C61G | 2 | 1 | |
4854 | 5 | 61 | C61G | 3 | skin | |
2984 | 11 | 1345 | 4153delA | 2 | 1 | |
4278 | 11 | 1345 | 4153delA | 4 | ||
3080 | 11 | 1345 | 4153delA | 2 | 2 | colon |
5939 | 11 | 1345 | 4153delA | 4 | leukaemia | |
1601 | 2 | 23 | 185delAG | 3 | ||
703 | 2 | 23 | 185delAG | 3 | lung | |
3910 | 11 | 1234 | 3819del5 | 3 | ||
5763 | 11 | 1234 | 3819del5 | 2 | 2 | colon, lung |
5746 | 5 | 64 | C64G | 4 | 1 | lung, colon, leukaemia |
BRCA2 | ||||||
3874 | 27 | 3401 | T3401M | 2 | 1 | colon |