Categories Genetic Testing

Study: Genetic testing can help identify who needs high-risk breast screening

Researchers in the WISDOM Study looked at women who had genetic testing and had an inherited mutation in a gene linked to increased breast cancer risk. When only risk factors other than genetic testing were considered, high-risk screening would not have been advised for most of these women. These results highlight how important genetic testing is to identify many women who need additional breast cancer screening. (posted 10/16/2026)

Study: Family communication and genetic testing after an inherited cancer risk is identified

A new study found that most people with an inherited cancer-related gene mutation share their results with family members. However, many relatives never pursue genetic testing. This means some relatives may miss opportunities to learn about their cancer risk and take steps to reduce it through screening, prevention or early detection. (posted 10/1/2026)

Study: Mutations in familial melanoma genes and cancer risk

Researchers studied nearly 700,000 people from the United States and the United Kingdom to learn how common mutations in familial melanoma genes are in the general population. They found that these mutations may be more common than previously estimated and were often found in people who developed melanoma at a young age or who had more than one melanoma. These findings suggest that some people with melanoma may benefit from discussing genetic counseling and testing with their healthcare provider. (posted 7/28/2026)

Study: Understanding inherited breast cancer risk in young Black women

This study looked at genetic testing for Black women diagnosed with breast cancer at age 50 or younger.  The study found that about 15% of young Black women had an inherited mutation in a known breast cancer gene, most commonly BRCA1, BRCA2, or PALB2. These findings highlight the importance of genetic counseling and testing in guiding treatment and family risk assessment. (posted 7/13/2026)

Study: Males with prostate cancer share positive experiences with genetic testing

A study of men with prostate cancer found that most had a positive experience with genetic testing. Many reported feeling more informed about their health and understanding their cancer risks after receiving their results. (posted 5/26/2026)

Study: Mutations in DNA repair genes and hereditary childhood cancer

Studies show that up to 18% of children with cancer have a mutation in a gene that is known to increase cancer risk. In this study, researchers examined whether mutations in genes that help repair damaged DNA contribute to pediatric cancer. They also identified new genes that may increase cancer risk in children. (posted 5/7/2026)

Study: Understanding the risks of a second cancer after a breast cancer diagnosis in people with BRCA1 and BRCA2 mutations

After breast cancer, people who have a BRCA1 or BRCA2 mutation face a greater risk of a second cancer compared to individuals without a BRCA mutation. This study helps to better understand this risk so that breast cancer survivors with mutations can receive informed, personalized plans for surveillance and follow-up care. (Posted 12/11/25)

Study: Cancer patients with certain inherited mutations have cancer outcomes similar to those without inherited mutations

People with an inherited mutation in certain genes, including ATM, CHEK2, PALB2, BRCA or Lynch syndrome genes, have an increased risk of cancer. In this study, researchers wanted to know whether cancer patients with inherited mutations had a different chance of survival than patients without an inherited mutation in these genes. These results showed that, although the risk of cancer is increased, there is no difference in survival after a diagnosis of breast, pancreatic or colorectal cancer with or without these genetic changes. (posted 11/20/25)

Study: Hereditary pancreatic cancer among people of Hispanic ancestry in Mexico

This study looks at people of Mexican ancestry who have pancreatic cancer to identify mutations linked to hereditary cancer. Knowledge of a hereditary cancer mutation can inform patients and their family members about the need for additional surveillance or different treatment options. Access to genetic testing in Mexico is more limited than in the United States. This study emphasizes the importance of genetic testing for inherited cancer risk in pancreatic cancer patients in Mexico. (posted 6/25/25)

Article: Life with a high-risk pancreatic and melanoma cancer mutation

One woman seeks genetic testing after her sister died of pancreatic cancer. Despite how her family’s mutation in the CDKN2A gene resulted in multiple cancer diagnoses and deaths and a suspicious finding during her own pancreatic cancer screening, Amarensia Spruitenburg shares a message of hope and gratitude. By telling her story, Amarensia highlights the impact that hereditary cancer can have on families.  (Posted 11/22/24)

Este artículo está disponible en español.