Mutation update for the SATB2 gene.

SATB2-associated syndrome (SAS) is an autosomal dominant neurodevelopmental disorder caused by alterations in the SATB2 gene. Here we present a review of published pathogenic variants in the SATB2 gene to date and report 38 novel alterations found in 57 additional previously unreported individuals. Overall, we present a compilation of 120 unique variants identified in 155 unrelated families ranging from single nucleotide coding variants to genomic rearrangements distributed throughout the entire coding region of SATB2.

Race and overall survival in men diagnosed with prostate cancer in the Department of Defense Military Health System, 1990-2010.

Background: In the U.S. general population, black men experience poorer survival after prostate cancer (CaP) diagnosis compared to white men, and findings may be impacted by unequal access to healthcare.

Costs for Colon Cancer Treatment Comparing Benefit Types and Care Sources in the US Military Health System.

Introduction: Cancer is one of the leading causes of morbidity and mortality in the USA, contributing largely to US healthcare spending. Provision of services (direct or purchased) and insurance benefit type may impact cost for cancer care. As a common cause of cancer in both men and women, we aim to compare colon cancer treatment costs between insurance benefit types and care sources in the US Military Health System (MHS) to better understand whether and to what extent these system factors impact cancer care costs.

Serum Biomarkers for Racial Disparities in Breast Cancer Progression.

African American (AA) women are often diagnosed with more aggressive breast cancers and have worse survival outcomes than their Caucasian American (CA) counterparts. However, a comprehensive understanding of this disparity remains unclear. In this study, we attempted to identify the race-specific non-invasive protein biomarkers that may particularly benefit interventions aimed at reducing the risk of recurrence and metastasis in breast cancers (BrCa).

Human Papillomavirus Vaccination Rates of Military and Civilian Male Respondents to the Behavioral Risk Factors Surveillance System Between 2013 and 2015.

Objective: To evaluate human papillomavirus (HPV) vaccination rates among men in the USA and to compare vaccination rates among men who had served in the military to those reporting no previous military service.

Methods: We performed a cross-sectional analysis using Behavioral Risk Factor Surveillance System (BRFSS) data from the 2013 to 2015 to analyze HPV vaccination rates for vaccine eligible adult men. The BRFSS is a multistage, cross-sectional telephone survey conducted nationally by state health departments.

Ancestral characterization of 1018 cancer cell lines highlights disparities and reveals gene expression and mutational differences.

Background: Although cell lines are an essential resource for studying cancer biology, many are of unknown ancestral origin, and their use may not be optimal for evaluating the biology of all patient populations.

Methods: An admixture analysis was performed using genome-wide chip data from the Catalogue of Somatic Mutations in Cancer (COSMIC) Cell Lines Project to calculate genetic ancestry estimates for 1018 cancer cell lines. After stratifying the analyses by tissue and histology types, linear models were used to evaluate the influence of ancestry on gene expression and somatic mutation frequency.

Cost-Efficiency of Breast Cancer Care in the US Military Health System: An Economic Evaluation in Direct and Purchased Care.

Introduction: With the rising costs of cancer care, it is critical to evaluate the overall cost-efficiency of care in real-world settings. In the United States, breast cancer accounts for the largest portion of cancer care spending due to high incidence and prevalence. The purpose of this study is to assess the relationship between breast cancer costs in the first 6 months after diagnosis and clinical outcomes by care source (direct or purchased) in the universal-access US Military Health System (MHS).

Chemotherapy, Biologic, and Immunotherapy Breakthroughs in Cancer Care.

As the understanding of cancer biology expands, a wider array of treatment options has become available in the field of gynecologic cancer. Therapies that target specific molecular pathways are now being used. Drugs that target cancer angiogenesis, signal transduction, DNA repair, and immune evasion mechanisms are currently being used, in addition to or in lieu of traditional chemotherapy, to achieve more personalized treatment of each patient and their unique disease.

Rsu1-dependent control of PTEN expression is regulated via ATF2 and cJun.

The Rsu1 protein contributes to cell adhesion and migration via its association with the adaptor complex of Integrin linked kinase (ILK), PINCH, and Parvin (IPP), which binds to the cytoplasmic domain of β1 integrins joining integrins to the actin cytoskeleton. Rsu1 binding to PINCH in the IPP complex is required for EGF-induced adhesion, spreading and migration in MCF10A mammary epithelial cells. In addition, Rsu1 expression inhibits Jun kinase but is necessary for the activation of MKK4 and p38 Map kinase signaling essential for migration in MCF10A cells.

Racial Differences in Time to Breast Cancer Surgery and Overall Survival in the US Military Health System.

Importance: Racial disparities in time to surgery (TTS) after a breast cancer diagnosis and whether these differences account for disparities in overall survival have been understudied in the US population.

Objectives: To compare TTS in non-Hispanic black (NHB) and non-Hispanic white (NHW) women with breast cancer and to examine whether racial differences in TTS may explain possible racial disparities in overall survival in a universal health care system.

Design, Setting, And Participants: Retrospective cohort identified from the Department of Defense Central Cancer Registry and Military Health System Data Repository linked databases containing records between January 1, 1998, and December 31, 2008, of 998 NHB women and 3899 NHW women who received a diagnosis of stages I to III breast cancer and underwent breast-conserving surgery (BCS) or mastectomy in the US Military Health System during the study period.

Race and renal cell carcinoma stage at diagnosis: an analysis of the Surveillance, Epidemiology, and End Results data.

To study racial differences in tumor stage at diagnosis among Black and White patients with renal cell carcinoma (RCC) by histologic type and time period. The patients were Black and White patients with RCC from 1999 to 2011 derived from the National Cancer Institute's Surveillance, Epidemiology, and End Results Program. Multinomial logistic regression was used to assess the associations between cancer stage and race and then stratified by histology and diagnosis year.

Phase I/II Trial of Vandetanib and Bortezomib in Adults with Locally Advanced or Metastatic Medullary Thyroid Cancer.

Lessons Learned: Vandetanib at a dose of 300 mg orally every day plus bortezomib 1.3 mg/m intravenously on days 1, 4, 8, and 11 could be administered safely.Assessing outcomes in 17 patients with medullary thyroid cancer, investigators considered the combination to be more difficult to administer than single-agent vandetanib and that achieving better outcomes was unlikely.

Loss of Nuclear Localized Parathyroid Hormone-Related Protein in Primary Breast Cancer Predicts Poor Clinical Outcome and Correlates with Suppressed Stat5 Signaling.

Purpose: Parathyroid hormone-related protein (PTHrP) is required for normal mammary gland development and biology. A gene polymorphism is associated with breast cancer risk, and PTHrP promotes growth of osteolytic breast cancer bone metastases. Accordingly, current dogma holds that PTHrP is upregulated in malignant primary breast tumors, but solid evidence for this assumption is missing.

Deployment and Smokeless Tobacco Use Among Active Duty Service Members in the U.S. Military.

Introduction: The prevalence of smokeless tobacco use among U.S. active duty service members has been much higher than in the U.

RNA interference screening identifies clathrin-B and cofilin-1 as mediators of MT1-MMP in endometrial cancer.

The matrix metalloproteinases (MMPs) are implicated in tumor invasion and metastasis. Given their multiple tumor promoting roles, MMPs are promising targets for the treatment of metastatic cancer. Using a siRNA library screen of 140 membrane trafficking genes, we identified 41 genes in HEC-1B and 36 in Ishikawa cancer cells that decreased metalloproteinases activity.

Creating prognostic systems for cancer patients: A demonstration using breast cancer.

Integrating additional prognostic factors into the tumor, lymph node, metastasis staging system improves the relative stratification of cancer patients and enhances the accuracy in planning their treatment options and predicting clinical outcomes. We describe a novel approach to build prognostic systems for cancer patients that can admit any number of prognostic factors. In the approach, an unsupervised learning algorithm was used to create dendrograms and the C-index was used to cut dendrograms to generate prognostic groups.

Organochlorine pesticide residues in human breast tissue and their relationships with clinical and pathological characteristics of breast cancer.

Agricultural pesticides are abundant environmental contaminants worldwide, prompting interest in studying their possible detrimental health effects. We examined organochlorine residues by quadrant (n = 245) in breast adipose tissues from 51 women with various stages of breast health to determine patterns of bioaccumulation within the breast and to assess relationships with patient clinical characteristics. Three organochlorine residues-2,2-bis(p-chlorophenyl)-1,1-dichloroethylene (p,p'-DDE), hexachlorobenzene (HCB), and mirex-assayed by high resolution gas chromatography were abundant in breast tissue.

Association Between Sickle Cell Trait With Selected Chronic Medical Conditions in U.S. Service Members.

Introduction: Sickle cell trait (SCT), the heterozygous carrier state for hemoglobin S, is present in an estimated 1.6% of all newborns and 7.3% in black individuals in the USA.

Scutellaria baicalensis targets the hypoxia-inducible factor-1α and enhances cisplatin efficacy in ovarian cancer.

Hypoxia-inducible factor-1alpha (HIF-1α) is aberrantly upregulated in tumors and implicated in angiogenesis, metastasis, and drug resistance. Therefore, developing treatments that target HIF-1α may be a viable therapeutic approach. In Traditional Chinese Medicine (TCM), Scutellaria baicalensis (SB) is used for the treatment of cancer but the anti-cancer mechanisms are not known.

Combination therapy with carfilzomib, lenalidomide and dexamethasone (KRd) results in an unprecedented purity of the stem cell graft in newly diagnosed patients with myeloma.

Still, many physicians give 4 cycles of combination therapy to multiple myeloma patients prior to collection of stem cells for autologous bone marrow transplant. This tradition originates from older doxorubicin-containing regiments which limited the number of cycles due to cumulative cardiotoxicity. Using older regiments, most patients had residual myeloma cells in their autologous stem-cell grafts during collection.

Costs for Breast Cancer Care in the Military Health System: An Analysis by Benefit Type and Care Source.

Introduction: Breast cancer care imposes a significant financial burden to U.S. healthcare systems.