Germ Line Mutations and Founder Effect
All germ-line BRCA1 mutations identified to date have been inherited, suggesting the possibility of a large “founder” effect in which a certain mutation is common to a well-defined population group and can, in theory, be traced back to a common ancestor. Given the complexity of mutation screening for BRCA1, these common mutations may simplify the methods required for mutation screening in certain populations. Analysis of mutations that occur with high frequency also permits the study of their clinical expression. Examples of manifestations of a founder effect are seen among Ashkenazi Jews. Three mutations in BRCA1 have been reported to account for the majority of Ashkenazi Jewish patients with inherited BRCA1-related breast and/or ovarian cancer: 185delAG, 188del11 and 5382insC in the BRCA1 gene. In fact, it has been shown that if a Jewish woman does not carry a BRCA1 185delAG, BRCA1 5382insC founder mutation, it is highly unlikely that a different BRCA1 mutation will be found. Additional examples of founder mutations in BRCA1 are given in Table 1 (mainly derived from ).
- This is an incomplete list, which may never be able to satisfy particular standards for completeness. You can help by expanding it with reliably sourced entries.
| Population or subgroup | BRCA1 mutation(s) | Reference(s) |
|---|---|---|
| African-Americans | 943ins10, M1775R | |
| Ashkenazi Jewish | 185delAG, 188del11, 5382insC | |
| Austrians | 2795delA, C61G, 5382insC, Q1806stop | |
| Belgians | 2804delAA, IVS5+3A>G | |
| Dutch | Exon 2 deletion, exon 13 deletion, 2804delAA | |
| Finns | 3745delT, IVS11-2A>G | |
| French | 3600del11, G1710X | |
| French Canadians | C4446T | |
| Germans | 5382insC | 4184del4 Ref. http://mutview.dmb.med.keio.ac.jp/MutationView/jsp/mutview/html/brca1.html |
| Greeks | 5382insC | |
| Hungarians | 300T>G, 5382insC, 185delAG | |
| Italians | 5083del19 | |
| Japanese | L63X, Q934X | |
| Native North Americans | 1510insG, 1506A>G | |
| Northern Irish | 2800delAA | |
| Norwegians | 816delGT, 1135insA, 1675delA, 3347delAG | |
| Pakistanis | 2080insA, 3889delAG, 4184del4, 4284delAG, IVS14-1A>G | |
| Polish | 300T>G, 5382insC, C61G, 4153delA | |
| Russians | 5382insC, 4153delA | |
| Scottish | 2800delAA | |
| South Africans | E881X | |
| Spanish | R71G | |
| Swedish | Q563X, 3171ins5, 1201del11, 2594delC |
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