Genetic Disorder Reference Sheet: BARD1
Located on chromosome 2 with 11 exons, BRCA1-associated ring domain (BARD1) is part of the BRCA1/BARD1 protein complex and associated with breast cancer susceptibility. The protein complex enhances ubiquitin ligase activity, which helps regulate centrosome function, repair DNA, and regulate cell cycles to maintain genetic stability. BARD1 interacts with and stabilizes BRCA1 in the repair of double-strand DNA breaks as part of the homologous recombination pathway.
Enough Is Enough When It Comes to E-Cigarettes, FDA Says
“The FDA is prepared to use all of its authorities to ensure these, and other illegal and youth-appealing products, stay out of the hands of kids. We are committed to a multipronged approach using regulation, compliance, and enforcement action and education to protect our nation’s youth.”
—Robert M. Califf, MD, U.S. Food and Drug Administration (FDA) Commissioner
Genetic Disorder Reference Sheet: Neurofibromatosis Type 2
Neurofibromatosis type 2 is an autosomal dominant disorder characterized by bilateral vestibular schwannomas that can lead to significant hearing loss or deafness. Symptoms include tinnitus, hearing loss, and balance problems, with an average age of onset of 18–24 years and nearly 100% penetrance.
Genetic Disorder Reference Sheet: Neurofibromatosis Type 1
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition that stems from a pathogenic variant in the NF1 gene, which regulates the production of the tumor-suppressing neurofibromin protein. NF1 disorder is characterized by pigmentation changes (e.g., café au lait spots; see image), cutaneous neurofibromas, malignant nerve sheath tumors, gastrointestinal stromal tumors, and intellectual disorders. Signs and symptoms vary widely, but NF1 disorders occur in 1 in about 3,000–4,000 people. Almost half of the cases are de novo.
U.S. Sales of E-Cigarettes Climbed Almost 50% From 2020–2022
As overall monthly unit sales of e-cigarettes increased by 46.6% from January 2020–December 2022, according to June 2023 data from the Centers for Disease Control and Prevention, tobacco cessation advocates continue to fight an uphill battle. Purchases grew from 15.5 million units to 22.7 million units in the study period.
COVID-19 Mortality Risk Is Higher for Females With Cancer
Biological sex may be a factor in COVID-19–related mortality among patients with cancer, according to study findings that researchers published in JAMA Oncology. They found that female patients were nearly twice as likely to die from infections than male patients.
Compensation Funds Curb Financial Burden for Certain Exposure-Related Cancers
People who live near nuclear weapons testing sites or work with uranium, U.S. Department of Energy employees, and firefighters, victims, and rescue and recovery workers from the September 11, 2001, attacks may be eligible for various government- or employer-funded compensation if they develop cancers because of their exposure to known related carcinogens. The funds can alleviate some of patients’ financial burden of cancer treatment and care and support families’ emotional well-being with a tangible reminder that the cancer is unrelated to any underlying inherited genetic disorder.
Veterans and Cancer
Veterans and active service members of the U.S. armed forces have dedicated their lives to the safety and freedom of their country. However, that honorable service may place them at risk for post-traumatic stress disorder, anxiety, depression, and cancer.
An Oncology Nurse’s Guide to Cascade Testing
A critical and often overlooked component of germline biomarker testing, cascade testing involves identifying biologic relatives at risk for inheriting a specific known family pathogenic variant after it’s first found in the family and extending the offer for germline biomarker testing to them.
America Needs Better Access and Equity to Reduce Mortality Rates and Achieve Cancer Moonshot Goals
U.S. healthcare providers need improved access to interventions known to prevent common causes of cancer death so the country can achieve President Joe Biden’s Cancer Moonshot initiative goal of reducing the cancer death rate by at least 50% over the next 25 years, according to a National Institutes of health study published in April 2023 that was led by National Cancer Institute researchers.
Genetic Disorder Reference Sheet: PTEN Hamartoma Tumor Syndrome
Alterations in the phosphatase and tensin (PTEN) homologue gene result in PTEN hamartoma tumor syndrome, which includes Cowden, Bannayan-Riley-Ruvalcaba, and PTEN-related Proteus and Proteus-like syndromes. Pathogenic variants in the PTEN gene are associated with increased risk for developing multiple benign and malignant tumors, some of which may occur in childhood.
NIH’s All of Us Research Program Starts Returning Genetic Health-Related Results to Participants
To help historically underrepresented communities learn more about their health, the National Institutes of Health’s All of Us Research Program began returning personalized health-related DNA results to more than 155,000 participants, NIH reported in December 2022. The reports include information on whether participants have an increased risk for certain health conditions and how they might process certain medications.
Healthy Lifestyles Reduce Prostate Cancer Mortality in Patients With Genetic Risk
Patients with germline genetic variants that increase their risk of developing prostate cancer have a lower risk of developing lethal disease when following a healthy lifestyle, according to study findings that researchers reported in European Urology.
FDA Removes Racist Root From Tobacco Database Terminology
To better reflect product descriptions and enforce commitment to diversity and inclusion, the U.S. Food and Drug Administration’s Center for Tobacco Products updated its term “grandfathered tobacco product” to “pre-existing tobacco product” in August 2022.
New Data Show 2.5 Million Youth Currently Use E-Cigarettes
About 1 in 10 middle (3.3%) and high (14.1%) school students used e-cigarettes in the past 30 days, according to findings that the U.S. Food and Drug Administration, in coordination with the Centers for Disease Control and Prevention, reported in October 2022. In total, 2.5 million middle and high school students currently use e-cigarettes.
NIH-Funded Study on HIV Vulnerability Could Help Erase Latent HIV Infection
Patterns of sugars at the surface of immune cells can affect a person’s vulnerability to HIV infection, according to results from a study funded by the National Institutes of Health. The findings suggested it may be possible to locate infected immune cells with the last vestiges of HIV by reading sugar profiles on the surface, Lawrence Tabak, DDS, PhD, NIH acting director, said in a July 2022 blog post.
NIH Climate Change and Health Initiative Rallies Efforts to Address the Dangers of the Environment on Health
The National Institutes of Health launched the Climate Change and Health Initiative to expand knowledge and address key challenges regarding the environment’s impact on health and conditions like cancer in a collaborating all-hands-on-deck scientific effort, Richard Woychik, PhD, director of the NIH’s National Institute of Environmental Health Sciences, said in a blog post in July 2022.
Hispanic Patients See Highest Increase Among Uterine Cancer’s Growing Mortality Rate
Racial and ethnic groups are disproportionately affected by the increase in uterine cancer mortality in the United States, researchers explained in study findings published in JAMA Oncology, with Hispanic patients experiencing the highest burden.
Genetic Disorder Reference Sheet: Multiple Endocrine Neoplasia Type 2
Multiple endocrine neoplasia type 2 is an autosomal dominant disease that occurs because of germline pathogenic variants in the rearranged during transfection (RET) proto-oncogene. The RET gene was isolated in 1993 and pathogenic variants affect 1–10 per 100,000 people. Approximately 50% of cases are de novo.
New HHS Office Will Fight Environmental Injustices That Affect Health
To address and protect the health of communities disproportionally affected by pollution and other environmental problems, the Biden-Harris administration created a new U.S. Department of Health and Human Services (HHS) office in May 2022.
Females Are More Likely to Have Severe Cancer Side Effects Than Males
Broad-based sex differences exist in the severity of side effects from cancer and its treatment, with female patients at an overall 34% higher risk for severe symptoms than male patients—and the risk jumps to nearly 50% for immunotherapies, researchers reported in the Journal of Clinical Oncology.
E-Cigarettes Increase Risk of Lung and Bladder Cancer More Than Traditional Cigarettes
People with a history of e-cigarette use have a higher risk of developing both lung and bladder cancer than never smokers or even users of regular cigarettes, according to study findings researchers reported during the 2022 American Society of Clinical Oncology Genitourinary Cancers Symposium.
Research Shows That Vaping Alters Mouth Microbes
People who use electronic cigarettes have unique microbial communities in their mouths that more closely resembled those of smokers than nonsmokers, which may signal an increased risk of gum disease for those individuals, according to findings from research funded in part by the National Institute of Health’s (NIH’s) National Institute of Dental and Craniofacial Research.
Genetic Disorder Reference Sheet: Von Hippel-Lindau Syndrome
An inherited disorder characterized by the formation of benign and malignant tumors and cysts throughout the body, Von Hippel-Lindau syndrome (VHL) occurs with an altered VHL tumor suppressor gene with autosomal dominant transmission. Estimated incidence is 1 in 36,000 people, both males and females equally, and the mean age of onset is 26 years. About 20% of patients with VHL are the first person in their family to have the pathogenic variant (i.e., de novo). The diagnosis is made with germline biomarker testing.
E-Cigarettes Are Not an Effective Smoking Cessation Strategy
Smokers who try to quit by switching to e-cigarettes do not have more success than those who use other smoking cessation strategies and in fact may be more likely to relapse, researchers found. They reported their study results in Tobacco Control.
The Oncology Nurse’s Role in Identifying Patients for Cancer Genetics Counseling
During personal and family medical history assessments, many patients report multiple cancer diagnoses in their family or concerns that other family members might be at increased risk for developing cancer. Patients and families might also ask their nurse about risk or parameters for genetic testing. Timely and appropriate referral to genetics professionals for counseling and possible testing for germline risk of malignancy enables individuals at increased risk to follow recommended surveillance and consider surgery and other preventive strategies, ultimately decreasing their risk of cancer-related morbidity and mortality.
Genetic Disorder Reference Sheet: CDH1 and Hereditary Diffuse Gastric Cancer
Pathogenic variants in the CDH1 gene are associated with hereditary diffuse gastric cancer (HDGC), a poorly differentiated adenocarcinoma that infiltrates into the stomach wall. It causes the stomach wall to thicken without forming a distinct mass, which limits effective screening strategies.
Local Policies Have Reduced Availability, Use of Flavored Tobacco Products
Local policies have reduced the availability and youth and adult use of products like flavored e-cigarettes and menthol cigarettes compared to areas without restrictions, the Truth Initiative reported after the first comprehensive quality review that looked at the outcomes of flavor and menthol tobacco restrictions. The research, which was conducted in partnership with the Research Triangle Institute, was published in Nicotine and Tobacco Research.
Nurses Must Take the Lead in Tobacco Cessation
Associated with more than a dozen different cancers, tobacco use is the leading cause of cancer and cancer deaths in the United States. The Centers for Disease Control and Prevention (CDC) estimated that 40% of all cancers are linked to tobacco use, and it’s responsible for 30% of cancer deaths in the United States and 22% around the world.
Genetic Disorder Reference Sheet: ATM Pathogenic Variants
An estimated 1%–2% of adults have one pathogenic ataxia telangiectasia mutated (ATM) gene variant (heterozygous) and are considered carriers. People who are homozygous (two altered copies) have ataxia-telangiectasia (A-T), a hereditary condition that often appears in childhood and is characterized by progressive neurologic problems that lead to difficulty walking and an increased risk for developing various malignancies. Children with A-T may begin staggering and appear unsteady (ataxia) shortly after learning to walk.
The Case of the Weight Loss Wishes
Craig was diagnosed with colorectal cancer after a routine colonoscopy and subsequent colectomy. He meets with Lacey, the oncology nurse, to discuss managing the side effects of his FOLFOX chemotherapy. Lacey notes that Craig’s age is 71, weight is 255 lbs., and body mass index (a body fat ratio based on weight and height) is 38. Craig describes his activity level as “walking to the mailbox and exercising my fingers on the remote control. This cancer treatment will help me knock off some of this extra weight.”
Genetic Disorder Reference Sheet: CHEK2 Gene Pathogenic Variants
The CHEK2 (checkpoint kinase 2) tumor suppressor gene provides cells with instructions for making a protein known as CHK2, which becomes active when the cell’s DNA is damaged or strands of it break. CHEK2 halts cell division and enables either cell repair or destruction. Without a properly functioning CHEK2 gene, cells lose a key restraint on their growth which may lead to uncontrolled cells and possibly malignancy. CHEK2*1100delC is the most common pathogenic variant and most prevalent in European populations.
U.S. Rep. Underwood, RN, Introduces Climate and Health Protection Act
Climate change was a core issue throughout the Biden-Harris campaign trail, and many advocacy groups are clamoring for the new administration to keep its promises. Recognizing the link between environmental concerns and health care, U.S. Representative Lauren Underwood (D-IL) introduced a bill that addresses both topics.
FDA Campaign Targets Youth Tobacco Use With Classroom Education
What’s the real cost of youth vaping? In a campaign to combat the ongoing epidemic, the U.S. Food and Drug Administration (FDA) and Scholastic, which publishes classroom magazines with accompanying teacher guides, provided e-cigarette education materials for middle and high school students to teach young Americans about the risks of e-cigarette use and nicotine addiction.
First-Time Smoking Age Increases Among Young Adults
Although overall smoking rates are decreasing among adolescents and young adults, a new trend is emerging: those who smoked their first cigarette between ages 18–23 increased from 21% in 2002 to 43% in 2018, researchers reported in JAMA Network Open. The increase in young adult first-time smokers comes at a time when smoking initiation rates are decreasing among younger teenagers.
NIH Announces COVID-19 Initiative to Connect With High-Risk Patient Populations
The assault on science, medicine, and research has never been stronger, flooding social media and communities with misinformation about the COVID-19 coronavirus pandemic. The National Institutes of Health (NIH)’s new research initiative, the Community Engagement Alliance Against COVID-19 Disparities, provides community education in the areas hit hardest by the virus.
What Is the Role of Genetic Counselors in Cancer Care?
Our understanding of cancer’s genetic components is constantly growing, with new cancer susceptibility genes discovered every year that change how we screen for and treat cancer. Genetics specialists keep up with the latest information and implications of genetic results is and can be a great addition to comprehensive oncology teams.
Harnessing the Power of Genes
Since the mapping of the human genome in 2003, genetic testing has rapidly evolved from single-gene tests to more complex profiles that measure multiple genes; it’s now part of standard care for many cancer types. Precision oncology allows clinicians to take patient-specific genomic factors into consideration when making treatment decisions, which can lead to improved outcomes, lower overall cost, and fewer side effects.
Smoking Initiation Declines in Teens, Rises in Young Adults
The average age at which cigarette users start to smoke regularly has risen. Although the figures dropped from 45% of adults smoking cigarettes in the 1960s to 14% today, and teen smoking declined to 2.4% by 2019, results of a recent study show an upward trend of underage tobacco use in young adults.
Protect Patients With Cancer During Flu Season With Recommended Vaccinations
Patients with cancer are at increased risk for complications from the common flu. Plus, ensuring they receive recommended influenza vaccinations will reduce flu-related healthcare demands and decrease stress on the United States’ healthcare system, which is crucial as the nation approaches 10 million COVID-19 coronavirus cases. In response, the Centers for Disease Control and Prevention (CDC) isn’t waiting until National Influenza Vaccination Week, December 6–12, 2020, to promote vaccinations to high-risk populations.
A Primer on Urothelial Cancer
The urinary system, including the bladder, ureters, urethra, and renal pelvis, is lined with urothelial tissue. Urothelial carcinoma is the predominant histologic type of cancer in that system, and 90% of tumors are located in the bladder. With more than 81,400 new cases and nearly 18,000 deaths estimated for 2020, bladder cancer is the fifth most prevalent type of cancer in the United States.
The Case of the HPV-Positive Perk
Warren is a 50-year-old man recently diagnosed with human papillomavirus (HPV)-positive oropharyngeal cancer. He and his wife meet with a radiation oncologist and develop a plan of care. Lisa, the radiation oncology nurse, meets with the couple to provide education and answer questions. Darren tells her that two of his “hard living” uncles died from head and neck cancer and the treatment was horrible. He says, “I’ve only had two sexual partners and never smoked—is this cancer really worth treating?”
NIH Study Links Cigarette Smoking to Higher Stroke Risk in African Americans
The disproportionate adverse health impact from smoking on African Americans is striking. Although oncology nurses are well aware of tobacco’s carcinogenic effects, they also need to understand the implications for comorbid conditions they may see in smokers with cancer. A recent study, through the National Institutes of Health (NIH), confirmed that African Americans have a 2.5 times higher incident of smoking-related strokes than those who never smoke.
Help Patients Understand Genomic Variants of Unknown Significance
Patients approach genetic testing, either for germline (inherited) or somatic (tumor) alterations, hoping it will provide valuable information about their cancer risk, prognosis, or treatment options. Next-generation sequencing makes it possible to test for panels of 40 or more genes simultaneously. By testing more genes, the possibility of finding an actionable, informative result improves, but so does the chance of having a result with one or more variants of unknown clinical significance.
Develop Your Individual Cancer Screening Plan
As oncology nurses, we know that catching cancer early through screening leads to better outcomes and increased survival rates. We ask our survivors and loved ones to prioritize their cancer screenings, reminding them, “I do not want to see you in my clinic chair or hospital bed with cancer, especially not at an advanced level.” Take care of yourself by giving yourself the same lecture.