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[PERSPECTIVES] Posttranslational Regulation and Conformational Plasticity of PTEN
Phosphatase and tensin homolog deleted on chromosome 10 (PTEN) is a tumor suppressor that is frequently down-modulated in human cancer. PTEN inhibits the phosphatidylinositol 3-phosphate kinase (PI3K)/AKT pathway through its lipid phosphatase activity. Multiple PI3K/AKT-independent actions of PTEN, protein-phosphatase activities and functions within the nucleus have also been described. PTEN, therefore, regulates many cellular processes including cell proliferation, survival, genomic integrity, polarity, migration, and invasion. Even a modest decrease in the functional dose of PTEN may promote cancer development. Understan...
Source: Cold Spring Harbor perspectives in medicine - June 30, 2020 Category: Research Authors: Kotelevets, L., Trifault, B., Chastre, E., Scott, M. G. H. Tags: The PTEN Family PERSPECTIVES Source Type: research

[PERSPECTIVES] The Biology of B-Progenitor Acute Lymphoblastic Leukemia
Genomic analyses have revolutionized our understanding of the biology of B-progenitor acute lymphoblastic leukemia (ALL). Studies of thousands of cases across the age spectrum have revised the taxonomy of B-ALL by identifying multiple new subgroups with diverse sequence and structural initiating events that vary substantially by age at diagnosis and prognostic significance. There is a growing appreciation of the role of inherited genetic variation in predisposition to ALL and drug responsiveness and of the nature of genetic variegation and clonal evolution that may be targeted for improved diagnostic, risk stratification, ...
Source: Cold Spring Harbor perspectives in medicine - June 30, 2020 Category: Research Authors: Roberts, K. G., Mullighan, C. G. Tags: Leukemia and Lymphoma: Molecular and Therapeutic Insights PERSPECTIVES Source Type: research

[ERRATUM] Erratum: Impairment of Synaptic Plasticity by Cannabis, {Delta}9-THC, and Synthetic Cannabinoids
(Source: Cold Spring Harbor perspectives in medicine)
Source: Cold Spring Harbor perspectives in medicine - May 31, 2020 Category: Research Authors: Hoffman, A. F., Hwang, E.-K., Lupica, C. R. Tags: ERRATUM Source Type: research

[CORRIGENDUM] Corrigendum: Glutamatergic Systems and Memory Mechanisms Underlying Opioid Addiction
(Source: Cold Spring Harbor perspectives in medicine)
Source: Cold Spring Harbor perspectives in medicine - May 31, 2020 Category: Research Authors: Heinsbroek, J. A., De Vries, T. J., Peters, J. Tags: CORRIGENDUM Source Type: research

[Early Release Articles] H9 Influenza Viruses: An Emerging Challenge
Influenza A viruses (IAVs) of the H9 subtype are enzootic in Asia, the Middle East, and parts of North and Central Africa, where they cause significant economic losses to the poultry industry. Of note, some strains of H9N2 viruses have been linked to zoonotic episodes of mild respiratory diseases. Because of the threat posed by H9N2 viruses to poultry and human health, these viruses are considered of pandemic concern by the World Health Organization (WHO). H9N2 IAVs continue to diversify into multiple antigenically and phylogenetically distinct lineages that can further promote the emergence of strains with pandemic potent...
Source: Cold Spring Harbor perspectives in medicine - May 31, 2020 Category: Research Authors: Carnaccini, S., Perez, D. R. Tags: Influenza: The Cutting Edge Early Release Articles Source Type: research

[TECHNIQUE] The Different Facets of Liquid Biopsy: A Kaleidoscopic View
The current limitations of cancer diagnosis and molecular profiling based on invasive tissue biopsies or clinical imaging have led to the development of the liquid biopsy field. Liquid biopsy includes the isolation of circulating tumor cells (CTCs), circulating free or tumor DNA (cfDNA or ctDNA), extracellular vesicles (EVs), and tumor-educated platelets (TEPs) from body fluid samples and their molecular characterization to identify biomarkers for early cancer diagnosis, prognosis, therapeutic prediction, and follow-up. These innovative biosources show similar features as the primary tumor from where they originated or int...
Source: Cold Spring Harbor perspectives in medicine - May 31, 2020 Category: Research Authors: Eslami-S, Z., Cortes-Hernandez, L. E., Cayrefourcq, L., Alix-Panabieres, C. Tags: Metastasis: Mechanism to Therapy TECHNIQUE Source Type: research

[PERSPECTIVES] Clinical Perspectives in Brain Metastasis
Brain metastases (BMs) are responsible for decline in neurological function, reduction in overall quality of life, and mortality from recurrent or untreatable lesions. Advances in diagnostics and imaging have led to increased detection of central nervous system (CNS) metastases in patients with progressive cancers. Improved control of extracranial systemic disease, and the limited ability of current therapeutics to cross the blood–brain barrier (BBB) also contribute to the increase in incidence of brain metastases, as tumor cells seek refuge in the brain. Surgery, chemotherapy, and/or radiation (whole-brain radiation...
Source: Cold Spring Harbor perspectives in medicine - May 31, 2020 Category: Research Authors: Deshpande, K., Buchanan, I., Martirosian, V., Neman, J. Tags: Metastasis: Mechanism to Therapy PERSPECTIVES Source Type: research

[PERSPECTIVES] Evidence-Based Genetic Counseling for Psychiatric Disorders: A Road Map
Psychiatric disorders, such as schizophrenia, depression, anxiety, and bipolar disorder, are common conditions that arise as a result of complex and heterogeneous combinations of genetic and environmental factors. In contrast to childhood neurodevelopmental conditions such as autism and intellectual disability, there are no clinical practice guidelines for applying genetic testing in the context of these conditions. But genetic counseling and genetic testing are not synonymous, and people who live with psychiatric disorders and their family members are often interested in what psychiatric genetic counseling can offer. Furt...
Source: Cold Spring Harbor perspectives in medicine - May 31, 2020 Category: Research Authors: Austin, J. C. Tags: Genetic Counseling: Clinical Practice and Ethical Considerations PERSPECTIVES Source Type: research

[PERSPECTIVES] Cancer Genetic Counseling--Current Practice and Future Challenges
Cancer genetic counseling practice is rapidly evolving, with services being provided in increasingly novel ways. Pretest counseling for cancer patients may be abbreviated from traditional models to cover the elements of informed consent in the broadest of strokes. Genetic testing may be ordered by a cancer genetics professional, oncology provider, or primary care provider. Increasingly, direct-to-consumer testing options are available and utilized by consumers anxious to take control of their genetic health. Finally, genetic information is being used to inform oncology care, from surgical decision-making to selection of ch...
Source: Cold Spring Harbor perspectives in medicine - May 31, 2020 Category: Research Authors: Schienda, J., Stopfer, J. Tags: Genetic Counseling: Clinical Practice and Ethical Considerations PERSPECTIVES Source Type: research

[PERSPECTIVES] Supporting Patient Autonomy and Informed Decision-Making in Prenatal Genetic Testing
Genetic counselors have both the burden and the privilege of supporting patients who are faced with making difficult decisions. In the prenatal setting, genetic counselors are responsible for reviewing a growing list of prenatal testing options for patients with the goal of helping people to anticipate the potential consequences of their decision. Prenatal genetic counselors also support patients in making decisions about the next steps after clinical evaluation has indicated a genetic condition, birth defect, or information of uncertain clinical significance in the fetus. The information provided and choices patients face...
Source: Cold Spring Harbor perspectives in medicine - May 31, 2020 Category: Research Authors: Stoll, K., Jackson, J. Tags: Genetic Counseling: Clinical Practice and Ethical Considerations PERSPECTIVES Source Type: research

[PERSPECTIVES] The Complex Landscape of PTEN mRNA Regulation
Phosphatase and tensin homolog deleted on chromosome 10 (PTEN) is a key tumor suppressor in the development and progression of different tumor types. Emerging data indicate that small reductions in PTEN protein levels can promote cancer. PTEN protein levels are tightly controlled by a plethora of mechanisms beginning with epigenetic and transcriptional regulation and ending with control of protein synthesis and stability. PTEN messenger RNA (mRNA) is also subject to exquisite regulation by microRNAs, coding and long noncoding RNAs, and RNA-binding proteins. Additionally, PTEN mRNA is markedly influenced by alternative spli...
Source: Cold Spring Harbor perspectives in medicine - May 31, 2020 Category: Research Authors: Sellars, E., Gabra, M., Salmena, L. Tags: The PTEN Family PERSPECTIVES Source Type: research

[PERSPECTIVES] Epidemiology and Etiology of Leukemia and Lymphoma
Available evidence suggests that the incidence of leukemia and lymphoma tends to be higher in highly developed regions of the world and among Whites in the United States. Temporal trends in incidence are dynamic and multifactorial; for instance, the incidence of non-Hodgkin's lymphoma increased around the turn of the century, in part because of the acquired immune deficiency syndrome (AIDS) epidemic. Most leukemias and lymphomas are sporadic and the specific etiology remains elusive. Still, research shows that these malignancies often develop in the context of genetic abnormalities, immunosuppression, and exposure to risk ...
Source: Cold Spring Harbor perspectives in medicine - May 31, 2020 Category: Research Authors: Bispo, J. A. B., Pinheiro, P. S., Kobetz, E. K. Tags: Leukemia and Lymphoma: Molecular and Therapeutic Insights PERSPECTIVES Source Type: research

[PERSPECTIVES] Myeloid Cells in Metastasis
Metastatic disease is the leading cause of death in patients with solid cancers. The progression to metastasis is a multistep process that involves detachment of tumor cells from their constraining basement membrane at the primary site, migration and intravasation into the circulation, survival in the circulation, extravasation into the secondary organ, and survival and growth at the secondary site. During these steps, tumor and immune cells interact and influence each other both within the tumor microenvironment and systemically. In particular, myeloid cells such as monocytes, macrophages, neutrophils, and myeloid-derived...
Source: Cold Spring Harbor perspectives in medicine - April 30, 2020 Category: Research Authors: Swierczak, A., Pollard, J. W. Tags: Metastasis: Mechanism to Therapy PERSPECTIVES Source Type: research

[PERSPECTIVES] Brain Metastasis Organotropism
Brain metastases are associated with poor prognosis irrespective of the primary tumor they originate from. Current treatments for brain metastases are palliative, and patients with symptomatic brain metastasis have a one-year survival of <20%. Lung cancer, breast cancer, and melanoma have higher incidences of brain metastases compared with other types of cancers. However, it is not very clear why some cancers metastasize to the brain more frequently than others. Studies thus far suggest that brain-specific tropism of certain types of cancers is defined by a winning combination of the following factors: unique genetic su...
Source: Cold Spring Harbor perspectives in medicine - April 30, 2020 Category: Research Authors: Yuzhalin, A. E., Yu, D. Tags: Metastasis: Mechanism to Therapy PERSPECTIVES Source Type: research

[PERSPECTIVES] Toward Systems Pathology for PTEN Diagnostics
Germline alterations of the tumor suppressor PTEN have been extensively characterized in patients with PTEN hamartoma tumor syndromes, encompassing subsets of Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome, Proteus and Proteus-like syndromes, as well as autism spectrum disorder. Studies have shown an increase in the risk of developing specific cancer types in the presence of a germline PTEN mutation. Furthermore, outside of the familial setting, somatic variants of PTEN occur in numerous malignancies. Here we introduce and discuss the prospect of moving toward a systems pathology approach for PTEN diagnosti...
Source: Cold Spring Harbor perspectives in medicine - April 30, 2020 Category: Research Authors: Haddadi, N., Travis, G., Nassif, N. T., Simpson, A. M., Marsh, D. J. Tags: The PTEN Family PERSPECTIVES Source Type: research