Lara Sanoguera-Miralles
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Explore the profile of Lara Sanoguera-Miralles including associated specialties, affiliations and a list of published articles.
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Recent Articles
1.
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays
Fortuno C, Llinares-Burguet I, Canson D, de la Hoya M, Bueno-Martinez E, Sanoguera-Miralles L, et al.
Hum Genomics
. 2025 Jan;
19(1):2.
PMID: 39780207
Background: TP53 variant classification benefits from the availability of large-scale functional data for missense variants generated using cDNA-based assays. However, absence of comprehensive splicing assay data for TP53 confounds the...
2.
Splicing Dysregulation of Non-Canonical GC-5' Splice Sites of Breast Cancer Susceptibility Genes and
Llinares-Burguet I, Sanoguera-Miralles L, Valenzuela-Palomo A, Garcia-Alvarez A, Bueno-Martinez E, Velasco-Sampedro E
Cancers (Basel)
. 2024 Nov;
16(21).
PMID: 39518003
: The non-canonical GC-5' splice sites (5'ss) are the most common exception (~1%) to the classical GT/AG splicing rule. They constitute weak 5'ss and can be regulated by splicing factors,...
3.
Sanoguera-Miralles L, Llinares-Burguet I, Bueno-Martinez E, Ramadane-Morchadi L, Stuani C, Valenzuela-Palomo A, et al.
J Pathol
. 2024 Feb;
262(4):395-409.
PMID: 38332730
Splicing is controlled by a large set of regulatory elements (SREs) including splicing enhancers and silencers, which are involved in exon recognition. Variants at these motifs may dysregulate splicing and...
4.
Sanoguera-Miralles L, Valenzuela-Palomo A, Bueno-Martinez E, Esteban-Sanchez A, Lorca V, Llinares-Burguet I, et al.
Clin Chem
. 2023 Sep;
70(1):319-338.
PMID: 37725924
Background: Disrupted pre-mRNA splicing is a frequent deleterious mechanism in hereditary cancer. We aimed to functionally analyze candidate spliceogenic variants of the breast cancer susceptibility gene CHEK2 by splicing reporter...
5.
Valenzuela-Palomo A, Sanoguera-Miralles L, Bueno-Martinez E, Esteban-Sanchez A, Llinares-Burguet I, Garcia-Alvarez A, et al.
Cancers (Basel)
. 2022 Sep;
14(18).
PMID: 36139699
PALB2 loss-of-function variants are associated with significant increased risk of breast cancer as well as other types of tumors. Likewise, splicing disruptions are a common mechanism of disease susceptibility. Indeed,...
6.
Sanoguera-Miralles L, Bueno-Martinez E, Valenzuela-Palomo A, Esteban-Sanchez A, Llinares-Burguet I, Perez-Segura P, et al.
Cancers (Basel)
. 2022 Jun;
14(12).
PMID: 35740625
RAD51C loss-of-function variants are associated with an increased risk of breast and ovarian cancers. Likewise, splicing disruptions are a frequent mechanism of gene inactivation. Taking advantage of a previous splicing-reporter...
7.
Bueno-Martinez E, Sanoguera-Miralles L, Valenzuela-Palomo A, Esteban-Sanchez A, Lorca V, Llinares-Burguet I, et al.
J Pathol
. 2022 Jun;
258(1):83-101.
PMID: 35716007
The ataxia telangiectasia-mutated (ATM) protein is a major coordinator of the DNA damage response pathway. ATM loss-of-function variants are associated with 2-fold increased breast cancer risk. We aimed at identifying...
8.
Zhu L, Miao B, Dymerska D, Kuswik M, Bueno-Martinez E, Sanoguera-Miralles L, et al.
Cancers (Basel)
. 2022 Feb;
14(3).
PMID: 35158942
Familial colorectal cancer (CRC) is only partially explained by known germline predisposing genes. We performed whole-genome sequencing in 15 Polish families of many affected individuals, without mutations in known CRC...
9.
Valenzuela-Palomo A, Bueno-Martinez E, Sanoguera-Miralles L, Lorca V, Fraile-Bethencourt E, Esteban-Sanchez A, et al.
J Pathol
. 2021 Nov;
256(3):321-334.
PMID: 34846068
PALB2 loss-of-function variants confer high risk of developing breast cancer. Here we present a systematic functional analysis of PALB2 splice-site variants detected in approximately 113,000 women in the large-scale sequencing...
10.
Bueno-Martinez E, Sanoguera-Miralles L, Valenzuela-Palomo A, Lorca V, Gomez-Sanz A, Carvalho S, et al.
Cancers (Basel)
. 2021 Jul;
13(11).
PMID: 34200360
loss-of-function variants increase lifetime risk of breast and ovarian cancer. Splicing disruption is a frequent pathogenic mechanism associated with variants in susceptibility genes. Herein, we have assessed the splicing and...