Giacomo Rossi’s Post

📋 "Often, providers are not sure if they are looking at a positive result or a variant of uncertain clinical significance." Expanding options in the types of panels available—large and small, cancer-specific (e.g., breast cancer, gastrointestinal cancer) and pan-cancer, and variability—can present challenges when applying test results to patient management. Here are 5 of the most common questions about interpreting genetic test results:

Over 1.4 million new prostate cancer cases and 375,000 deaths globally in 2020 highlight the urgent need for awareness and research. With #Movember and Men's Health Awareness Month approaching in November, it's a perfect time to explore the latest developments in metastatic castration-resistant prostate cancer (mCRPC). Learn how genetic testing and new treatments, including PARP inhibitors, are shaping the future of care. Read the full blog for more insights - The Future of mCRPC Treatment: Integrating Genetic and Genomic Testing https://hubs.ly/Q02TsNFQ0 #ProstateCancer #mCRPC #MensHealth #GeneticTesting #CancerAwareness #PrecisionOncology

Over 1.4 million new prostate cancer cases and 375,000 deaths globally in 2020 highlight the urgent need for awareness and research. With #Movember and Men's Health Awareness Month approaching in November, it's a perfect time to explore the latest developments in metastatic castration-resistant prostate cancer (mCRPC). Learn how genetic testing and new treatments, including PARP inhibitors, are shaping the future of care. Read the full blog for more insights - The Future of mCRPC Treatment: Integrating Genetic and Genomic Testing https://hubs.ly/Q02TsXVb0 #ProstateCancer #mCRPC #MensHealth #GeneticTesting #CancerAwareness #PrecisionOncology

Immunotherapies have had a major impact on cancer treatment and are regularly used today. However, their effectiveness is limited by factors often pertaining to the properties of the tumor microenvironment. Intratumoral bacteria might be a sensible target to increase the potential of cancer immunotherapy (CIT), as they affect tumor cells and the tumor microenvironment. A new article in Nature describes how genetic engineering enables these bacteria to deliver immunotherapeutics, e.g. by modifying the bacterial surface for targeted infection and release of internally produced drugs. Click the picture to review the state-of-the-art in bacterial CIT and learn about efforts that have been made over the years as well as challenges that remain, including dose effects, sterility and safety. #immunotherapy #cancerresearch #healthcareinnovation

Sugar consumption is associated with breast cancer. Now we have a plausible mechanism. Breast cancer is driven by BRCA 1 and 2 mutations. BRCA2 is inhibited by a carbohydrate intermediate called methyglyoxal (MGO). Fructose is the primary substrate that generates MGO. We've shown that levels of MGO fall precipitously in obese kids when the sugar (glucose-fructose) in their diet is replaced with starch (glucose) (Erkin-Cakmak et al. JCEM, 2019). Bottom line, fructose is a problem every which way. It's a mitochondrial toxin resulting in metabolic syndrome, and now we see it is also a metabolic driver of cancer.

Mutations in DNA repair genes, such as BRCA1/2 and ATM, have been linked to grade reclassification (GR) in prostate cancer patients undergoing active surveillance (AS). Men with these mutations face a higher risk of developing aggressive prostate cancer compared to non-carriers. This is where personalized medicine becomes crucial—it empowers patients to make informed decisions about the best treatment options tailored to their individual needs. However, there is a pressing need for clear guidelines on which panels and genes to test, particularly for men with metastatic and non-metastatic prostate cancer, as well as those at high risk. We must balance the benefits of expanded testing with potential challenges, such as variants of uncertain significance. Chosen by @Lena Qawasmi #PersonalizedMedicine #CancerCare #CancerResearch #GeneticTesting https://lnkd.in/dbC5mAQJ

Triple-negative breast cancer represents 15–20% of breast cancer cases and lacks targeted treatments. It is a biologically aggressive tumor characterized by moderate/high grade and highly proliferative cancer cells, which, together with limited treatment options, leads to the poorest prognosis among breast cancer subtypes. BRCA mutations, especially BRCA1, are strongly associated with TNBC risk. As per DelveInsight Business Research LLP’s estimates, out of all gene mutation specific TNBC cases in the United States in 2023, approximately 5,000 cases were BRAC gene mutation cases. Latest results from the PARTNER Trial (NCT03150576) at AACR 2024 assessed LYNPARZA (olaparib) with carboplatin and paclitaxel in neoadjuvant therapy for BRCA Wild-Type TNBC but didn't show improved outcomes compared to chemotherapy alone. For detailed findings, visit: https://lnkd.in/gYtNd8ku #breastcancer #triplenegativebreastcancer #AACR2024 #cancertreatment #neoadjuvant #BRAC #BRACgenemutations #genemutations #Olaparib

Read a #ResearchHighlight exploring endogenous retroviruses (ERVs) and how these repetitive genetic sequences, typically silenced in healthy cells, can become reactivated in diseases. This study focuses on the LTR10 family and their role as enhancers in colorectal cancer and other epithelial tumors. Learn more: https://bit.ly/3B5Oa2V

16% of #lungcancer #patients, w/no prior #cancer or #familyhistory of #cancer, had PGVs on #germlinetesting https://lnkd.in/gzdHQTQC "...it may be of interest to routinely examine all #patients w/ #lungcancer for...PGVs [pathogenic germline variants] in #cancer-risk genes, benefiting #patients & their relatives." Steven Sorscher et al. https://lnkd.in/gCCfHGZG #JCOPrecisionOncology American Society of Clinical Oncology (ASCO) Invitae #access #reducedisparities #universal #genetictesting #precisionmedicine #precisiontherapy #clinicaltrials #precisionprevention

September is #Thyroid #Cancer #Awareness #Month! Researchers from Mainz have published a paper on thyroid cancer: In this study, certain genes were examined to determine whether they are associated with more aggressive forms of thyroid cancer (papillary thyroid carcinoma). The study found that the genes AHNAK2, DCSTAMP, and FN1 are more commonly found in #tumors with a specific #mutation (BRAFV600E), which may increase the risk of recurrence. Additionally, tumors with a mutation in the TERT promoter were often found to be more aggressive and had a higher risk of recurrence. These findings could help identify patients with aggressive tumors at an early stage and allow for more tailored treatments.   More information: https://lnkd.in/ewmEvaKS