Perspectives of Young Women With Gynecologic Cancers on Fertility and Fertility Preservation: A Systematic Review.

Background: Gynecologic cancers standard treatment often requires the removal of some reproductive organs, making fertility preservation a complex challenge. Despite heightened oncofertility awareness, knowledge about fertility attitudes and decisions of young patients with gynecologic cancer is scarce. The aim of this systematic review was to highlight what is currently known about knowledge, attitudes, and decisions about fertility, fertility preservation, and parenthood among these patients.

Decisional Regret in Female Oncofertility Decision Making-An Integrative Narrative Review.

It is well established that fertility is an important issue for young women with cancer at reproductive age, as many have not initiated or completed their parenthood goals when diagnosed. Because cancer treatments may impair fertility, women face fertility decisions that are often complex and surrounded by uncertainty. This may put patients at risk for psychological distress and the experience of regret regarding decisions made at diagnosis, which may be associated with a negative impact on women's QoL.

Ibuprofen disrupts a WNK1/GSK3β/SRPK1 protein complex required for expression of tumor-related splicing variant RAC1B in colorectal cells.

A major risk factor promoting tumor development is chronic inflammation and the use of nonsteroidal anti-inflammatory drugs (NSAID), including ibuprofen, can decrease the risk of developing various types of cancer, including colorectal cancer (CRC). Although the molecular mechanism behind the antitumor properties of NSAIDs has been largely attributed to inhibition of cyclooxygenases (COXs), several studies have shown that the chemopreventive properties of ibuprofen also involve multiple COX-independent effects. One example is its ability to inhibit the alternative splicing event generating RAC1B, which is overexpressed in a specific subset of BRAF-mutated colorectal tumors and sustains cell survival.

Alternative Splicing: Expanding the Landscape of Cancer Biomarkers and Therapeutics.

Alternative splicing (AS) is a critical post-transcriptional regulatory mechanism used by more than 95% of transcribed human genes and responsible for structural transcript variation and proteome diversity. In the past decade, genome-wide transcriptome sequencing has revealed that AS is tightly regulated in a tissue- and developmental stage-specific manner, and also frequently dysregulated in multiple human cancer types. It is currently recognized that splicing defects, including genetic alterations in the spliced gene, altered expression of both core components or regulators of the precursor messenger RNA (pre-mRNA) splicing machinery, or both, are major drivers of tumorigenesis.

Prognostic Factors and Life Expectancy in Canine Leishmaniosis.

Canine leishmaniosis (CanL) is a chronic and potentially fatal disease. The prognosis of CanL depends on the severity of the clinical signs and clinicopathological abnormalities presented by the dog at the time of diagnosis. This study aims to estimate the survival time of dogs with CanL, determining the prognostic value of different clinical and clinicopathological parameters.

Integration of partners of young women with cancer in oncofertility evidence-based informational resources.

Oncofertility has evolved over the years, with a prodigious amount of research documenting the importance of fertility for young patients with cancer, and the potential impact that fertility impairments due to cancer treatments has on their Quality of Life (QoL). Multiple professional bodies and scientific societies have included fertility as an integral part of clinical management. Clinical guidelines advocate that health professionals have the duty to discuss the risk of infertility and fertility preservation options as early as possible and refer to fertility specialists when appropriate.

Protocol for the development and acceptability of a fertility-related decision aid for young women with breast cancer in Portugal.

Introduction: Young patients with breast cancer may face impaired fertility due to cancer treatments, which often leads to complex fertility decisions. To aid fertility decision-making, it is crucial that women have access to high-quality information; however, their fertility information needs are often unmet. Decision aids (DAs) are educational materials to assist with decision-making, by addressing individual values and preferences.

Networks of mRNA Processing and Alternative Splicing Regulation in Health and Disease.

mRNA processing events introduce an intricate layer of complexity into gene expression processes, supporting a tremendous level of diversification of the genome's coding and regulatory potential, particularly in vertebrate species. The recent development of massive parallel sequencing methods and their adaptation to the identification and quantification of different RNA species and the dynamics of mRNA metabolism and processing has generated an unprecedented view over the regulatory networks that are established at this level, which contribute to sustain developmental, tissue specific or disease specific gene expression programs. In this chapter, we provide an overview of the recent evolution of transcriptome profiling methods and the surprising insights that have emerged in recent years regarding distinct mRNA processing events - from the 5' end to the 3' end of the molecule.

Childbearing across borders: Fertility and parenthood attitudes and decisions among breast cancer survivors in USA and Portugal.

Objective: To compare fertility and childbearing attitudes and decisions of Portuguese and American female reproductive aged breast cancer survivors.

Methods: This was a cross-sectional study of 102 young breast cancer survivors (59 from Portugal and 43 from USA). Demographic, clinical and reproductive information were collected.

Genetics of personalized medicine: cancer and rare diseases.

The 21st annual meeting of the Portuguese Society of Human Genetics (SPGH), organized by Luísa Romão, Ana Sousa and Rosário Pinto Leite, was held in Caparica, Portugal, from the 16th to the 18th of November 2017. Having entered an era in which personalized medicine is emerging as a paradigm for disease diagnosis, treatment and prevention, the program of this meeting intended to include lectures by leading national and international scientists presenting exceptional findings on the genetics of personalized medicine. Various topics were discussed, including cancer genetics, transcriptome dynamics and novel therapeutics for cancers and rare disorders that are designed to specifically target molecular alterations in individual patients.

Signaling Pathways Driving Aberrant Splicing in Cancer Cells.

Aberrant profiles of pre-mRNA splicing are frequently observed in cancer. At the molecular level, an altered profile results from a complex interplay between chromatin modifications, the transcriptional elongation rate of RNA polymerase, and effective binding of the spliceosome to the generated transcripts. Key players in this interplay are regulatory splicing factors (SFs) that bind to gene-specific splice-regulatory sequence elements.

Review of fertility preservation issues for young women with breast cancer.

It is well documented that cancer treatment may temporarily or permanently impair childbearing potential of young women with breast cancer. Given that many patients have not initiated or completed their families when diagnosed, fertility issues are of utmost importance in this clinical population. This review addresses the importance of incorporating fertility issues into the clinical care of young breast cancer patients, focusing on recent knowledge and counselling practices about fertility-related issues and the complexity of fertility-related decisions in this population.

Targeting the serrated pathway of colorectal cancer with mutation in BRAF.

A recently acknowledged morphological pathway to colorectal cancer originates from precursor polyps with a serrated appearance due to branching and folding of the colon epithelium. This serrated origin accounts for up to 30% of all colorectal tumors but these are heterogeneous regarding molecular characteristics and patient outcome. Here we review the current knowledge about the classification of this tumor subtype and its association with five key features: mutation status of the BRAF or KRAS genes, the CpG island methylation phenotype, microsatellite instability, immune cell infiltration, and overexpression of GTPase RAC1b.

Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.

This data article contains insights into the methodology used for the analysis of three exonic mutations altering the splicing of the IDS gene: c.241C>T, c.257C>T and c.

Posttranscriptional Regulation of Splicing Factor SRSF1 and Its Role in Cancer Cell Biology.

Over the past decade, alternative splicing has been progressively recognized as a major mechanism regulating gene expression patterns in different tissues and disease states through the generation of multiple mRNAs from the same gene transcript. This process requires the joining of selected exons or usage of different pairs of splice sites and is regulated by gene-specific combinations of RNA-binding proteins. One archetypical splicing regulator is SRSF1, for which we review the molecular mechanisms and posttranscriptional modifications involved in its life cycle.

Quality of life in adolescent and young adult cancer patients: a systematic review of the literature.

Introduction: Adolescent and young adult (AYA) cancer survivors experience many unique challenges and quality of life (QoL) effects that persist beyond cancer diagnosis and treatment. Due to continuous improvements in technology and cancer treatments resulting in improved survival rates, the identification of late effects, survivorship issues, and QoL is moving to the forefront of cancer research. The goal of this systematic review was to identify key psychosocial factors impacting QoL in AYA oncology populations.

Phosphorylation of SRSF1 by SRPK1 regulates alternative splicing of tumor-related Rac1b in colorectal cells.

The premessenger RNA of the majority of human genes can generate various transcripts through alternative splicing, and different tissues or disease states show specific patterns of splicing variants. These patterns depend on the relative concentrations of the splicing factors present in the cell nucleus, either as a consequence of their expression levels or of post-translational modifications, such as protein phosphorylation, which are determined by signal transduction pathways. Here, we analyzed the contribution of protein kinases to the regulation of alternative splicing variant Rac1b that is overexpressed in certain tumor types.

Childbearing attitudes and decisions of young breast cancer survivors: a systematic review.

Background: Young breast cancer survivors often need to deal with adverse effects of treatments on fertility and complex reproductive decisions. In this systematic review, we highlight what is known about childbearing and parenthood attitudes and decisions of young breast cancer survivors from their own perspective.

Methods: We conducted manual and electronic searches on Pubmed, PsychInf and CINAHL databases for articles, published in English between 1 January 1990 and 31 October 2012, that assessed childbearing, pregnancy and parenthood attitudes/decisions of female breast cancer survivors (premenopausal and/or <50 years old).

Ibuprofen inhibits colitis-induced overexpression of tumor-related Rac1b.

The serrated pathway to colorectal tumor formation involves oncogenic mutations in the BRAF gene, which are sufficient for initiation of hyperplastic growth but not for tumor progression. A previous analysis of colorectal tumors revealed that overexpression of splice variant Rac1b occurs in around 80% of tumors with mutant BRAF and both events proved to cooperate in tumor cell survival. Here, we provide evidence for increased expression of Rac1b in patients with inflamed human colonic mucosa as well as following experimentally induced colitis in mice.

A longitudinal investigation of depressive symptoms in undergraduate students of pharmacy in Syria.

This prospective longitudinal study investigated depressive symptoms and its association with students' demographic, academic, and health factors in undergraduate students of pharmacy in Syria. Students attending any year (1st to 5th year) were assessed in the first semester (time 1) and in the second semester (time 2). An academic year comprises two semesters of 16 weeks each.