2024-03-29T02:22:36Zhttp://digital.csic.es/dspace-oai/requestoai:digital.csic.es:10261/494282021-06-24T09:48:20Zcom_10261_39com_10261_1col_10261_292
Infante, Mar
Durán, Mercedes
Acedo, Alberto
Sanz, David J.
Pérez-Cabornero, Lucía
Miner, Cristina
Velasco, Eladio
2012-05-09T08:08:20Z
2012-05-09T08:08:20Z
2010-07
Breast Cancer Research and Treatment 122(2): 567-571 (2010)
0167-6806
http://hdl.handle.net/10261/49428
10.1007/s10549-009-0661-1
1573-7217
The mutation spectrum of BRCA1 and BRCA2
presents a wide range of unique mutations in breast/ovarian
cancer patients but recurrent mutations with founder effects
have also been described. BRCA2 5344delAATA and
9538delAA are recurrent mutations in Castilla-Leo´n
(Spain) representing 10.6% of BRCA2 positive families. By
genotyping eleven chromosome 13 markers (4.3 Mb) we
demonstrate that each mutation shows core haplotypes of
1.66 and 0.87 Mb, respectively, supporting a common
ancestor in Castilla-Leo´n. Furthermore, both mutations are
associated with earlier onset of breast cancer (5344delAATA:
37.4 years, P = 0.033; 9538delAA: 39.4 years,
P = 0.008). The identification of founder effects improves
the genetic screening strategy to be followed and facilitates
the clinical management of asymptomatic carriers.
eng
openAccess
BRCA-1
BRCA2
Founder mutations
Hereditary breast cancer
Two founder BRCA2 mutations predispose to breast cancer in young women
artículo