Fundación Pública Galega de Medicina Xenómica
Centro de investigación
Mª del Mar
Infante Sanz
Publicacións nas que colabora con Mª del Mar Infante Sanz (6)
2020
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Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia
Breast cancer research : BCR, Vol. 22, Núm. 1, pp. 108
2015
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BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study
Familial Cancer, Vol. 14, Núm. 4, pp. 505-513
2014
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About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants
International Journal of Cancer, Vol. 134, Núm. 9, pp. 2088-2097
2013
2012
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Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer
Breast Cancer Research and Treatment, Vol. 132, Núm. 1, pp. 307-315
2010
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BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin
Clinical Genetics, Vol. 77, Núm. 1, pp. 60-69