Publications by authors named "P Pujol"
Background: Li-Fraumeni syndrome (LFS) predisposes individuals to a wide range of cancers from childhood onwards, underscoring the crucial need for accurate interpretation of germline variants for optimal clinical management of patients and families. Several unclassified variants, particularly those potentially affecting splicing, require specialised testing. One such example is the NM_000546.
View Article and Find Full Text PDFBackground: Poly (ADP ribose) polymerase inhibitors (PARPis) are a treatment option for patients with advanced high-grade serous or endometrioid ovarian carcinoma (OC). Recent guidelines have clarified how homologous recombination deficiency (HRD) may influence treatment decision-making in this setting. As a result, numerous companion diagnostic assays (CDx) have been developed to identify HRD.
View Article and Find Full Text PDFWhile it is recognised that most, if not all, multicellular organisms harbour neoplastic processes within their bodies, the timing of when these undesirable cell proliferations are most likely to occur and progress throughout the organism's lifetime remains only partially documented. Due to the different mechanisms implicated in tumourigenesis, it is highly unlikely that this probability remains constant at all times and stages of life. In this article, we summarise what is known about this variation, considering the roles of age, season and circadian rhythm.
View Article and Find Full Text PDFArticle Synopsis
- * Four hybrid silica xerogels were created using tetraethoxysilane and different organochlorinated triethoxysilane precursors, all maintaining a constant 10% organochlorinated content but varying in the organic group’s structure.
- * Thermal decomposition analysis identified three distinct pyrolysis events and clarified reaction pathways, showing that these processes are significantly influenced by the type of organic group present.
Introduction: Accurate identification and characterization of Large Genomic Rearrangements (LGR), especially duplications, are crucial for precise diagnosis and risk assessment. In this report, we characterized an intragenic duplication breakpoint of to determine its pathogenicity significance.
Methods: A 52-year-old female with triple-negative breast cancer was diagnosed with a novel LGR.