Abstract：
:We recently described a novel g.8097_22733del14637 deletion encompassing exons 3-5 in BRCA1 gene. This rearrangement was detected in 3 of 15 (20 %) breast and/or ovarian cancer families of Eastern Spain. This finding made us suspect that the newly identified deletion could be a founder mutation. To confirm this hypothesis we studied 18 subjects belonging to the three families under study, 11 deletion carriers and 7 non-carriers. We performed a haplotype analysis using two BRCA1 intragenic microsatellite markers and two markers surrounding the BRCA1 locus. The segregation analysis showed one common particular haplotype established by D17S1325, D17S1323, D17S855 and D17S1320 markers detected in the deletion carriers but absent in the non-carriers. Our study sustain that the deletion of exons 3-5 of BRCA1, g.8097_22733del14637, identified in families of southeastern of the Valencian Community is the first founder rearrangement until now reported in Spanish population, confirming the hypothesis that this mutation could have Iberian ancestry.
journal_name
Fam Cancerjournal_title
Familial cancerauthors
Palanca S,de Juan I,Perez-Simó G,Barragán E,Chirivella I,Martínez E,Fuster O,Bolufer Pdoi
10.1007/s10689-012-9579-6subject
Has Abstractpub_date
2013-03-01 00:00:00pages
119-23issue
1eissn
1389-9600issn
1573-7292journal_volume
12pub_type
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