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International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation
The c.156_157insAlu BRCA2 mutation has so far only been reported in hereditary breast/ovarian cancer (HBOC) families of Portuguese origin. Since this mutation is not detectable using the commonly used screening methodologies and must be specifically sought, we screened for this rearrangement in a to...
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Published in: | Breast cancer research and treatment 2011-06, Vol.127 (3), p.671-679 |
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Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Format: | Article |
Language: | English |
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Summary: | The c.156_157insAlu
BRCA2
mutation has so far only been reported in hereditary breast/ovarian cancer (HBOC) families of Portuguese origin. Since this mutation is not detectable using the commonly used screening methodologies and must be specifically sought, we screened for this rearrangement in a total of 5,443 suspected HBOC families from several countries. Whereas the c.156_157insAlu
BRCA2
mutation was detected in 11 of 149 suspected HBOC families from Portugal, representing 37.9% of all deleterious mutations, in other countries it was detected only in one proband living in France and in four individuals requesting predictive testing living in France and in the USA, all being Portuguese immigrants. After performing an extensive haplotype study in carrier families, we estimate that this founder mutation occurred 558 ± 215 years ago. We further demonstrate significant quantitative differences regarding the production of the
BRCA2
full length RNA and the transcript lacking exon 3 in c.156_157insAlu
BRCA2
mutation carriers and in controls. The cumulative incidence of breast cancer in carriers did not differ from that of other
BRCA2
and
BRCA1
pathogenic mutations. We recommend that all suspected HBOC families from Portugal or with Portuguese ancestry are specifically tested for this rearrangement. |
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ISSN: | 0167-6806 1573-7217 |
DOI: | 10.1007/s10549-010-1036-3 |