Articles related to GENETIC TESTING/MUTATIONS

Understand the profound implications of Dr. Vidal’s latest research on racial disparities in NGS testing for advanced non-small cell lung cancer, revealing a systemic issue that spans across practices and extends to the level of individual physicians.

Enhancing Cardiovascular Disease Risk Prediction: Comparing Coronary Artery Calcium and Polygenic Risk Scores A Northwestern University study revealed that both coronary artery calcium and polygenic risk scores significantly influence 10-year risk prediction for coronary heart disease. However, coronary artery calcium score demonstrated superior predictive power, reinforcing the integration of these novel tools in risk prediction models. “What this study says is that in white participants enrolled in 2 observational studies, identifying coronary calcium predicted future cardiac events better than our currently available polygenic risk scores.” Dr. Karol E. Watson, PhD, professor of medicine and cardiology at the David Geffen School of Medicine at the University of California Los Angeles

Unraveling gene-specific cancer risks in first-degree relatives of PDAC probands sheds light on a higher uptake of genetic cascade testing. Recent data suggests that first-degree relatives of patients with pancreatic ductal adenocarcinoma (PDAC) who carry pathogenic germline variants (PGVs) in specific cancer syndrome-associated genes face heightened cancer risks. The study focuses on PDAC probands carrying PGVs in nine such genes: ATM, BRCA1, BRCA2, PALB2, MLH1, MSH2, MSH6, PMS2, and CDKN2A. To date, these risks hadn’t been comprehensively analyzed. The study analyzed 234 PDAC probands with PGVs, selected from a pool of 4,562 participants who underwent genetic testing. Findings suggest that different genes correlate to distinct types of cancer. For instance, female relatives of probands with BRCA1 and BRCA2 variants showed significantly increased risks of ovarian and breast cancer. First-degree relatives of probands with Lynch syndrome mismatch repair variants exhibited higher risks of uterine, endometrial, and colon cancer. Additionally, the risk of PDAC itself rose with variants in ATM, BRCA2, CDKN2A, and PALB2, with melanoma risk escalating for relatives of probands with CDKN2A variants. Overall, this research underscores that gene-specific PDAC and extra-PDAC cancer risks in first-degree relatives of PDAC probands are linked with the presence of PGVs in nine cancer […]

Learn about the precise genomic tests and compassionate treatments one doctor is using to address racial inequities in breast cancer care. JAMA’s latest study highlights a discrepancy in breast cancer care for Black women. The accuracy of widely used genomic tests for breast cancer, such as Oncotype DX, is notably less reliable for Black women. Hence, there’s an urgent call to address racial disparities in breast cancer care, especially as Black women currently face 41% higher mortality rates than white women. Dr. Nathalie Johnson, President of The American Society of Breast Cancer Surgeons, advocates for Agendia’s tests, which focus solely on biological factors. Such tests disregard race, ethnicity, age, or menopausal status, allowing for truly personalized treatment selection. Moreover, understanding every woman’s unique cancer empowers not only the patients but also their care teams. Recent research confirms that Black women are more likely to experience high-risk recurrence and death from axillary node-negative breast cancer compared to their non-Hispanic white counterparts. It reveals that Oncotype DX tests have lower prognostic accuracy for Black women. It points to the need for model calibration in genomic assays for populations with more racial/ethnic diversity. Dr. Johnson emphasizes personalized medicine and stresses the importance of […]

Medical oncologists, pathologists, gastroenterologists, and other oncology HCPs who participate in this CME activity should be better able to determine appropriate testing to personalize treatment for HER2+ metastatic colorectal cancer patients (mCRC) and summarize clinical data from existing and emerging treatment options for HER2+ mCRC patients.

The first version of the test, launched in November 2022, assesses chromosomal copy number changes in blood, cerebrospinal fluid, and the aqueous humor of the eye to aid in the clinical diagnosis of patients with solid tumors, brain tumors, and retinoblastoma, respectively. The next version of the clinical assay, which will be available in about six months, will detect mutations and gene fusions.