Review Article

A Comprehensive Focus on Global Spectrum of BRCA1 and BRCA2 Mutations in Breast Cancer

Table 2

BRCA1 and BRCA2 gene mutations in Northern Europe.

CountryBRCA1  mutationsBRCA2 mutationsFounder mutations

Finlandc.5095C>T [3],4216-2nt A–>G
5370C>T [159]
4088insA,
c.68-80insT,
c.793+34T>G
999del5
6503delTT [159]
4216-2ntA>G
5370C>T
999del5
6503delTT [159]
Sweden3172ins5, 2594delC
1806C>T, 1201del11
[47, 48]
4486delG
[47, 48]
3172ins5, 2594delC
1806C>T, 1201del11
4486delG [47, 48]
Denmark3172ins5 and 1201del11
1675delA and 1135insC
[38, 49]
2594delC, 5382insC
3829delT and Q563X
3438G>T, 1675delA,
999del5
[38, 49]
Iceland/Denmark (999del5)
Norway/Denmark (1675delA and 1135insC)
Swedish/Danish founder (3172ins5 and 1201del11, 3438G>T, 1675delA)
Danish specific: 2594delC, 5382insC, 3829delT, and Q563X
[38, 49]
Norway1135insA, 1675delA, 816delGT, 3203del11, and 3347delAG [50, 51]
IcelandG5193A [54]999del5 [54]999del5, G5193A [54]
NetherlandExon 13 and 22 del
2804delAA
IVS2011G>A, IVS21-36del510
5382insC, 1411insT, 2138delA 2312del5, 2457C4T, 185insA, 185delAG [59]
6503delTT, 8295T4A,
9900insA, 5579insA, 7647delTG [59]
5579insA, exon 13 del
[59], 2804delA [160]