Novel Genetic Markers for Early Detection of Elevated Breast Cancer Risk in Women.

This study suggests that two newly discovered variants in the MSH2 gene, which codes for a DNA mismatch repair (MMR) protein, can be associated with a high risk of breast cancer. While variants in the MSH2 gene are known to be linked with an elevated cancer risk, the MSH2 gene is not a part of the standard kit for testing patients for elevated breast cancer risk. Here we used the results of genetic testing of women diagnosed with breast cancer, but who did not have variants in BRCA1 and BRCA2 genes. Instead, the test identified four variants with unknown significance (VUS) in the MSH2 gene. Here, we carried in silico analysis to develop a classifier that can distinguish pathogenic from benign mutations in MSH2 genes taken from ClinVar. The classifier was then used to classify VUS in MSH2 genes, and two of them, p.Ala272Val and p.Met592Val, were predicted to be pathogenic mutations. These two mutations were found in women with breast cancer who did not have mutations in BRCA1 and BRCA2 genes, and thus they are suggested to be considered as new bio-markers for the early detection of elevated breast cancer risk. However, before this is done, an in vitro validation of mutation pathogenicity is needed and, moreover, the presence of these mutations should be demonstrated in a higher number of patients or in families with breast cancer history.

Screening and Early Detection of Lung Cancer.

OBJECTIVE: To review current risk factors for lung cancer, identify screening and early detection guidelines while describing new approaches that use genomic technologies. DATA SOURCES: Published scientific literature, clinical literature, and published lung cancer screening guidelines from the United States and Canada. CONCLUSION: Nurses are caring for lung cancer patients who, historically, do not live for long periods after diagnosis. Research is revealing promising screening methodologies that can detect lung cancer 1 to 4 years earlier than the current approaches. IMPLICATIONS FOR NURSING PRACTICE: Current knowledge about screening for lung cancer is a vital tool for nurses working with persons at high risk for this potentially aggressive and life-threatening malignancy. While old methods remain the standard of care, new detection methods use a variety of genomic-based technologies. These developing approaches emphasize the need for nurses at all levels of practice to have a working knowledge of genetics to educate patients and conference with colleagues.

Effects of viewing a preferred nature image and hearing preferred music on engagement, agitation, and mental status in persons with dementia.

BACKGROUND: The purpose of the described exploratory study was to test proactive strategies for enhancing engagement and cognitive ability while diminishing dementia-related disordered behaviors of those diagnosed with Alzheimer's disease and other dementias. Study participants resided in an Memory Care unit of an assisted living community. METHOD: The researchers measured the effects of exposure to music and nature images on engagement using the Individualized Dementia Engagement and Activities Scale tool, on cognitive ability using the Montreal Cognitive Assessment, and on agitation using the Cohen-Mansfield Agitation Inventory. RESULT: The within-subject study design revealed that use of both music and nature images hold promise for reducing undesirable behaviors and improving engagement of residents. CONCLUSION: The authors suggest caregivers for those with Alzheimer's disease and other dementias can effectively use nature images and music to improve engagement and reduce disordered behaviors, thus potentially enhancing quality of life for the care recipient as well as the caregiver while possibly reducing the costs of medications used to control dementia-related undesirable behaviors.

The impact of genomics on oncology nursing.

Since 2003, genetics and genomics information has led to exciting new diagnostics, prognostics, and treatment options in oncology practice. Profiling of cancers offers providers insight into treatment and prognostic factors. Germline testing provides an individual with information for surveillance or therapy that may help them prevent cancer in their lifetime and options for family members as yet untouched by malignancy. This offers a challenge for oncology nurses and other oncology health care providers to become comfortable with incorporating education about genetics/genomics into their clinical practice and patient education.

The finger of an angel: memory return with epigenetic manipulation.

Scientists have been trying to crack the memory code for hundreds of years; however, centuries later, even the simplest elements of memory formation are still not fully understood. Recent studies in epigenetics indicate neuronal activity can induce transient reprogramming of epigenetic codes required for long-term memory consolidation. This suggests epigenetics as a basic mechanism in the regulation of long-term memory; and highlights the possibility that epigenetic modifications, as well as environmental factors, can change certain gene expression of brain neurons to restore the ability to remember, even with an aging brain or innate mental deficits. This article is an overview of basic knowledge and current research on epigenetic regulation of long-term memory, and prospects for future research.

The need to be aware and beware of the genetic information nondiscrimination act.

Genetic advancements have presented numerous discrimination predicaments to individuals, the healthcare community, and legislators at state and federal levels. Oncology nurses should be knowledgeable about the Genetic Information Nondiscrimination Act of 2008 (GINA) and its applications to clinical practice. GINA is the first federal law passed to protect U.S. citizens with inherited disorders from being treated unfairly because of their genetic makeup. Understanding the legislation known as GINA, including how it modifies existing federal laws governing health insurance coverage and employment discrimination, can assist oncology nurses in providing important education and advocating for patients and their extended families. Federal agencies that govern and enforce GINA's provisions are identified. Case situations are included to demonstrate how to apply information concerning GINA to patients with cancer and their families who are considering or have already completed genetic testing. Privacy of genetic information is a timely issue but difficult to understand; therefore, provisions of GINA should be addressed and evaluated carefully.

Huntington disease: Implications for practice.

This article reviews the normal function of the huntingtin gene, mutation-induced changes in the gene product (protein), possible causes of Huntington disease, and associated symptoms. An educational tool with recommendations the practitioner can use for interventions and counseling with patients and their families is also included.

Unmasking the truth behind endocrine disruptors.

The increase in reproductive cancers and developmental problems over the past 70 years has led researchers to suspect environmental influences as a root cause. Evidence from wildlife and laboratory studies suggests that exposure to endocrine disruptors (EnDs) may be the cause. An EnD is a foreign substance or mixture that alters the function of the endocrine system. They can be found in food, water, soil, or air. Research into their possible role provides an opportunity to decrease modifiable risk factors.

Near-infrared optical imaging of the breast with model-based reconstruction.

RATIONALE AND OBJECTIVES: Near-infrared diffuse optical imaging may offer enhanced contrast resolution over that of the existing technologies for detection and diagnosis of breast cancer. The authors report quantitative absorption and scattering images of the human breast with model-based reconstruction methods using near-infrared continuous-wave tomographic data. MATERIALS AND METHODS: An automatic, multichannel optical imaging system was used to image the breasts of nine women: four with infiltrating ductal carcinomas, one with infiltrating lobular carcinoma, one with fibroadenoma, and three control subjects with no breast lesion. The image reconstruction methods are centered on the finite element solution of photon diffusion in breast tissue. RESULTS: Substantial contrast between tumor and adjacent parenchyma was observed. Images of the control subjects showed homogeneous optical features. In the six women with breast lesions, the locations and sizes of tumors imaged optically were accurate and consistent with the mammographic findings. CONCLUSION: The results of this pilot study show that cancers as small as 5 mm can be quantitatively imaged. In addition, preliminary data from the scattering images suggest that benign and malignant tumors can be noninvasively differentiated with optical imaging.