Marta Santamarina
Overview
Explore the profile of Marta Santamarina including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
26
Citations
640
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Li S, Madanat-Harjuoja L, Leslie G, Barnes D, Bolla M, Dennis J, et al.
J Natl Cancer Inst
. 2024 Nov;
PMID: 39585318
Background: Whether carriers of BRCA1 or BRCA2 (BRCA1/2) pathogenic variants (PVs) have increased risks of childhood, adolescent, and young adult (CAYA) cancers is controversial. We aimed to evaluate this risk...
2.
Stolarova L, Kleiblova P, Zemankova P, Stastna B, Janatova M, Soukupova J, et al.
Clin Cancer Res
. 2023 Jul;
29(16):3037-3050.
PMID: 37449874
Purpose: Germline pathogenic variants in CHEK2 confer moderately elevated breast cancer risk (odds ratio, OR ∼ 2.5), qualifying carriers for enhanced breast cancer screening. Besides pathogenic variants, dozens of missense...
3.
Thomassen M, Mesman R, Hansen T, Menendez M, Rossing M, Esteban-Sanchez A, et al.
Hum Mutat
. 2022 Aug;
43(12):1921-1944.
PMID: 35979650
Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splicing event, complicating clinical classification of variants that may alter ∆E3 expression. This study used multiple evidence types to assess...
4.
Dareng E, Tyrer J, Barnes D, Jones M, Yang X, Aben K, et al.
Eur J Hum Genet
. 2022 Mar;
30(5):630-631.
PMID: 35314806
No abstract available.
5.
Li S, Silvestri V, Leslie G, Rebbeck T, Neuhausen S, Hopper J, et al.
J Clin Oncol
. 2022 Jan;
40(14):1529-1541.
PMID: 35077220
Purpose: To provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) in and for effective cancer risk management. Methods: We...
6.
Dareng E, Tyrer J, Barnes D, Jones M, Yang X, Aben K, et al.
Eur J Hum Genet
. 2022 Jan;
30(3):349-362.
PMID: 35027648
Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effects in models could improve predictive performance...
7.
Silvestri V, Leslie G, Barnes D, Agnarsson B, Aittomaki K, Alducci E, et al.
JAMA Oncol
. 2020 Jul;
6(8):1218-1230.
PMID: 32614418
Importance: The limited data on cancer phenotypes in men with germline BRCA1 and BRCA2 pathogenic variants (PVs) have hampered the development of evidence-based recommendations for early cancer detection and risk...
8.
Figlioli G, Kvist A, Tham E, Soukupova J, Kleiblova P, Muranen T, et al.
Cancers (Basel)
. 2020 Jan;
12(2).
PMID: 31991861
Germline protein truncating variants (PTVs) in the gene have been associated with a 2-4-fold increased breast cancer risk in case-control studies conducted in different European populations. However, the distribution and...
9.
Fachal L, Aschard H, Beesley J, Barnes D, Allen J, Kar S, et al.
Nat Genet
. 2020 Jan;
52(1):56-73.
PMID: 31911677
Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis...
10.
Figlioli G, Bogliolo M, Catucci I, Caleca L, Lasheras S, Pujol R, et al.
NPJ Breast Cancer
. 2019 Nov;
5:38.
PMID: 31700994
Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes , , , , and are associated with breast cancer risk....