Skip to main content

Search

Search the site:

News, Views, and Advocacy From the Oncology Nursing Society

News & Views

Advocacy

Stories

News & Views

Latest Articles
Clinical Practice
ONS News
ONS Leadership

Trending Topics

Research
Treatments
Safety
COVID-19
Drug Reference Sheet
Special Populations

View All Topics

Advocacy

Latest Articles
Updates
Get Involved

Stories View All

View All

Innovative Oncology Nurses Break Down Communication Barriers for Patients Who Are Deaf or Hard of Hearing

Special Populations

Innovative Oncology Nurses Break Down Communication Barriers for Patients Who Are Deaf or Hard of Hearing

How I Practice Mindfulness as an Oncology Nurse

Nurse well-being

How I Practice Mindfulness as an Oncology Nurse

Clinical and Pharmaceutical Nurse Educators Collaborate to Bring Training to Nurses and Improve Patient Care

Oncology nurse education

Clinical and Pharmaceutical Nurse Educators Collaborate to Bring Training to Nurses and Improve Patient Care

January 13, 2023

Oncology Nurse Uses Retirement to Help Patients and Healthcare Professionals Understand Pancreatic Cancer Biomarker Testing Results

Pancreatic cancer

Oncology Nurse Uses Retirement to Help Patients and Healthcare Professionals Understand Pancreatic Cancer Biomarker Testing Results

November 11, 2022

The Life of Marie Curie and Her Contributions to Oncology

Cancer treatments

The Life of Marie Curie and Her Contributions to Oncology

November 07, 2022

Search

News & Views

Advocacy

Stories

Home

Author Content

Genetics & genomics

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.

Genetics & genomics

Direct-to-Consumer Genomic Testing in Patients With Cancer

Direct-to-consumer genomic testing is a patient-initiated type of testing that is marketed to the general public in advertisements on all media. The tests can be purchased online or in stores without requiring a healthcare professional order or third-party payer authorization. Customers send a saliva sample to the company and view their test results on a secure website, but the results are not included in their electronic health record unless they specifically request it.

February 21, 2023

Genetics & genomics

Genetic Disorder Reference Sheet: BAP1

Isolated in 1998 as a tumor suppressor gene, BAP1 pathogenic variants have been identified in at least 200 families. More cases will be found as germline pathogenic variant testing becomes more readily available and routinely offered to patients with cancer.

January 17, 2023

Genetics & genomics

Genetic Disorder Reference Sheet: HOXB13

An altered HOXB13 gene may increase a patient’s risk for developing prostate cancer. The HOXB13 gene is expressed in the prostate beginning in early development and affects prostate cell proliferation and differentiation and androgen receptor regulation. When it acts as a tumor suppressor gene, HOXB13 codes for a protein that regulates cell division. However, altered copies of HOXB13 are inactivated, meaning that it does not function properly or does not produce the protein it codes for, resulting in uncontrolled cell division.

November 30, 2022

Genetics & genomics

Understand Genomic Variants to Confidently Educate Your Patients

Nurses’ consistent and correct use of genomics terminology is critical to reduce confusion and provide safe genomics care to patients and their families, especially when explaining the meaning of genomic tests or findings.

October 13, 2022

Genetics & genomics

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.

August 04, 2022

Genetics & genomics

Genetic Disorder Reference Sheet: Multiple Endocrine Neoplasia Type 1

Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant genetic disease affecting about 1 in 30,000 people. Pathogenic variants in the MEN1 gene are associated with benign and malignant tumors in the parathyroid glands, pituitary gland, pancreas, duodenum, and stomach.

Genetics & genomics

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.

Genetics & genomics

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.

Genetics & genomics

Genetic Disorder Reference Sheet: PALB2

PALB2 refers to partner and localizer of BRCA2. The gene was isolated in 2007 and is the third most common gene associated with breast cancer risk. Both men and women are at increased risk for developing multiple cancers if they have a pathogenic PALB2 variant (see sidebar).

Genetics & genomics

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.

January 18, 2022

Genetics & genomics

Genetic Disorder Reference Sheet: Familial Adenomatous Polyposis

Individuals with 10–100+ polyps may have a germline pathogenic variant in the APC gene, placing them at higher risk for developing colorectal, gastrointestinal, and other cancers. The condition is known as familial adenosis polyposis (FAP), and loss of function in the APC gene is the first step in the adenoma-to-carcinoma sequence. Some people have an attenuated form (aFAP), with delayed polyp growth and fewer polyps (see sidebar). As many as 20% are de novo, meaning that they are the first in their family to have an identified pathogenic variant.

November 04, 2021

Genetics & genomics

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.

October 18, 2021

Genetics & genomics

Genetic Disorder Reference Sheet: MUTYH-Associated Polyposis

MUTYH-associated polyposis (MAP) is an autosomal recessive hereditary cancer syndrome. It’s most commonly seen in people of northern European ancestry, where an estimated 1 in 20,000–40,000 have MAP (two pathogenic variants on opposite chromosomes) and 1%–2% have one MUTYH pathogenic variant.

Clinical practice

Genetic Disorder Reference Sheet: BRCA1 and BRCA2 Hereditary Cancers

BRCA1- or BRCA2-associated hereditary breast and ovarian cancer is the most common form of hereditary breast and ovarian cancer. The prevalence of BRCA1 and BRCA2 pathogenic variants in the general population is estimated at 1 in 400–500 people, although it increases to 1 in 40 for those of Ashkenazi Jewish ancestry, which is linked to three founder pathogenic variants (BRCA1 c.68_69delAG, BRCA1c.5266dupC, and BRCA2 c.5946delT).

Genetics & genomics

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.

Genetics & genomics

Genetic Disorder Reference Sheet: Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer)

Lynch syndrome, now referred to as hereditary nonpolyposis colorectal cancer (HNPCC), was first identified in a family in 1895. In 1966, Henry Lynch reported a series of families with colon and other cancers in the Nebraska area. Today, the evidence shows that HNPCC is associated with germline pathogenic variants in the MLH1, MSH2, MSH6, PMS2, and EPCAM genes.

January 25, 2021

Pancreatic cancer

Pancreatic Cancer Risk Factors, Diagnosis, Treatment, Side Effects, and Survivorship Considerations

Pancreatic cancer is the ninth most common cancer in the United States, accounting for 3% of all cancers but causing 7% of cancer-related deaths, which equates to about 57,500 diagnoses and 47,050 deaths each year. The average person’s risk for pancreatic cancer is about 1 in 64.

December 03, 2020

Breast Cancer Prevention, Screening, Diagnosis, Treatment, Side Effect, and Survivorship Considerations

In the United States, breast cancer is the most commonly diagnosed cancer in women. One in eight women will develop invasive disease in their lifetime with approximately 270,00 new cases diagnosed in the United States in 2019. Caucasian women have the highest incidence rate, whereas African American women are most likely to die from the disease. The five-year survival rate is 91%, with an estimated 3.8 million breast cancer survivors living in the United States.

October 15, 2020

Genetics & genomics

As True Detectives, Genetics Professionals Uncover the Meaning of True or Noninformative Negative Results

Patients who watch crime shows think that DNA testing is as simple as taking a cheek swab and getting the results in two minutes so the case is solved at the end of the 42-minute episode. The reality? DNA can be identified from buccal cells in a cheek swab, but results take several weeks to obtain and are not always a simple negative or positive.

August 18, 2020

Treatment side effects

Glioblastoma Diagnosis, Treatment, Side Effect Management, and Survivorship Recommendations

Glioblastoma or glioblastoma multiform (GBM) is a primary central nervous system tumor. Approximately 23,890 new brain tumors are diagnosed in the United States each year, with GBM accounting for 38%. GBM can present as a primary diagnosis or evolve from a lower grade brain tumor.

August 06, 2020

Genetics & genomics

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.

Melanoma Prevention, Screening, Treatment, and Survivorship Recommendations

It is no coincidence that May is Melanoma Awareness Month. As Americans take to the great outdoors, they also must take caution to protect their skin and prevent melanoma.

Genetics & genomics

Family Risk Factors May Indicate Need for Genetics Counseling Referrals

Genetics testing is not just about one family member; the results have implications for an entire family. Results of genetic testing can be confusing, and families often need assistance understanding what it means for them. Genetics counseling before and after testing is very important to help individuals and families understand the results of genetic testing when they are received and over time.

Genetics & genomics

What Happens During a Genetics Counseling Session?

When referring patients for genetics counseling and possible testing for hereditary risk, oncology nurses can help relieve their trepidation and anxiety by explaining what to expect during the visit. See the sidebar for key indications for referral.

Current page 1
Page 2
Page 3
Next page
Last page

To discuss the information in this article with other oncology nurses, visit the ONS Communities.

To report a content error, inaccuracy, or typo, email pubONSVoice@ons.org.

Suzanne M. Mahon DNS, RN, AOCN®, AGN-BC, FAAN

News, Views, and Advocacy From the Oncology Nursing Society

Legal Notices

Contact Us

Conferences

Advertising

Newsroom

Sitemap

Oncology Nursing Foundation

© Copyright 2023 Oncology Nursing Society

Back to Top ▲