Marta Santamarina
Overview
Explore the profile of Marta Santamarina including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
26
Citations
640
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0
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Recent Articles
11.
Esperon-Moldes U, Ginarte M, Santamarina M, Rodriguez-Lage B, Rodriguez-Pazos L, Vega A
Acta Paediatr
. 2018 Dec;
108(4):763-765.
PMID: 30536735
No abstract available.
12.
Moles-Fernandez A, Duran-Lozano L, Montalban G, Bonache S, Lopez-Perolio I, Menendez M, et al.
Front Genet
. 2018 Sep;
9:366.
PMID: 30233647
tools for splicing defect prediction have a key role to assess the impact of variants of uncertain significance. Our aim was to evaluate the performance of a set of commonly...
13.
Burke L, Sevcik J, Gambino G, Tudini E, Mucaki E, Shirley B, et al.
Hum Mutat
. 2018 Sep;
39(12):2025-2039.
PMID: 30204945
The widespread use of next generation sequencing for clinical testing is detecting an escalating number of variants in noncoding regions of the genome. The clinical significance of the majority of...
14.
Baert A, Machackova E, Coene I, Cremin C, Turner K, Portigal-Todd C, et al.
Hum Mutat
. 2017 Dec;
39(4):515-526.
PMID: 29280214
For 21 putative BRCA1 and BRCA2 splice site variants, the concordance between mRNA analysis and predictions by in silico programs was evaluated. Aberrant splicing was confirmed for 12 alterations. In...
15.
Fackenthal J, Yoshimatsu T, Zhang B, de Garibay G, Colombo M, De Vecchi G, et al.
J Med Genet
. 2016 Apr;
53(8):548-58.
PMID: 27060066
Background: BRCA1 and BRCA2 are the two principal tumour suppressor genes associated with inherited high risk of breast and ovarian cancer. Genetic testing of BRCA1/2 will often reveal one or...
16.
de la Hoya M, Soukarieh O, Lopez-Perolio I, Vega A, Walker L, van Ierland Y, et al.
Hum Mol Genet
. 2016 Mar;
25(11):2256-2268.
PMID: 27008870
A recent analysis using family history weighting and co-observation classification modeling indicated that BRCA1 c.594-2A > C (IVS9-2A > C), previously described to cause exon 10 skipping (a truncating alteration),...
17.
Blanco A, Gutierrez-Enriquez S, Santamarina M, Montalban G, Bonache S, Balmana J, et al.
Breast Cancer Res Treat
. 2014 Aug;
147(1):133-43.
PMID: 25086635
BRCA1 and BRCA2 are the most well-known breast and ovarian cancer susceptibility genes. Additional genes involved in DNA repair have been identified as predisposing to breast cancer. Recently, RAD51C, a...
18.
Fachal L, Blanco A, Santamarina M, Carracedo A, Vega A
PLoS One
. 2014 Apr;
9(3):e93306.
PMID: 24686251
In the Iberian Peninsula, which includes mainly Spain and Portugal, large genomic rearrangements (LGRs) of BRCA1 and BRCA2 have respectively been found in up to 2.33% and 8.4% of families...
19.
Colombo M, Blok M, Whiley P, Santamarina M, Gutierrez-Enriquez S, Romero A, et al.
Hum Mol Genet
. 2014 Feb;
23(14):3666-80.
PMID: 24569164
Loss-of-function germline mutations in BRCA1 (MIM #113705) confer markedly increased risk of breast and ovarian cancer. The full-length transcript codifies for a protein involved in DNA repair pathways and cell-cycle...
20.
Whiley P, de la Hoya M, Thomassen M, Becker A, Brandao R, Pedersen I, et al.
Clin Chem
. 2013 Nov;
60(2):341-52.
PMID: 24212087
Background: Accurate evaluation of unclassified sequence variants in cancer predisposition genes is essential for clinical management and depends on a multifactorial analysis of clinical, genetic, pathologic, and bioinformatic variables and...