Robert Miller’s Post

Excited to announce our first publication of Tapestry, revealing insightful findings on Hereditary Breast Ovarian Cancer (HBOC) syndrome and Lynch syndrome (LS). Out of 44,306 participants, the analysis identified 550 carriers, showcasing a prevalence of 1.24%. Notably, 52.1% were newly diagnosed carriers, emphasizing the critical need for broader genetic sequencing utilization for improved screening and detection. Furthermore, 39.2% of carriers did not meet NCCN criteria for genetic evaluation. These results underscore the significance of advancing germline genetic sequencing to identify individuals with LS and HBOC predisposition syndromes effectively. https://lnkd.in/gRV2GkJg

CDH1: Another gene to be included in the breast cancer genetic testing panel Pathogenic or likely pathogenic germline CDH1 variants are linked to an increased risk of diffuse gastric cancer and lobular breast cancer within the hereditary diffuse gastric cancer (HDGC) syndrome. Interestingly, in certain cases, lobular breast cancer can present as the initial symptom of this syndrome even without the presence of diffuse gastric cancer. https://lnkd.in/dGB9jscF

Breakthrough in Afro-Ancestry Cancer Research! A recent study published in the Journal of Clinical Oncology has made a significant breakthrough in understanding cancer disparities in populations of African ancestry. Researchers analyzed genetic data from over 1,000 African American patients with cancer. They identified specific genetic variants associated with increased cancer risk and poorer outcomes. These findings can help improve cancer screening and treatment for individuals of African descent. This research paves the way for a better understanding of cancer risks and outcomes in our community. Also enabling more targeted and effective cancer screening and treatment options. Learn more about this research: https://lnkd.in/dgKzeyXy #myafrodna #cancerresearch #africanancestry #healthequity #cancerawareness

The Inter-Organization Cancer Genetics Clinical Evidence Coalition (INTERACT) is taking action to ensure policy and guidelines keep pace with the growing body of evidence surrounding inherited cancer risk. Their goal is to reach vulnerable populations who may not currently be aware of their risk or their need for increased screening or other interventions. This healthcare ecosystem collaboration is essential to advancing early detection of cancer care. Did you know that with Lynch syndrome, one of the most common hereditary cancer syndromes, patients have up to 80 percent lifetime risk for colorectal cancer, but an estimated 95 percent of at-risk individuals have not been identified? #colorectalcancer #precisionmedicine

🎉 Exciting News! 🎉 Our latest research on colorectal cancer prediction is now published! 📄✍️ We have evaluated a combined model of Polygenic Risk Score (PRS) and mismatch repair (MMR) genes in the association with colorectal cancer (CRC) for a Norwegian cohort. 🇳🇴 The integration of PRS with MMR gene status offers a promising approach to better predict colorectal cancer in Norwegian populations. For more details, check out our full paper here: https://lnkd.in/dg5xxbQq #ColorectalCancer #GeneticsResearch #PRS #MMRgenes #HealthcareInnovation #NorwegianCohort #LynchSyndrome #ScientificResearch #CancerPrevention

Los olvidados: Non-BRCA variants associated with Hereditary breast cancer in Mexican population - 1285 patients with hereditary breast and ovarian cancer syndrome (HBOC) diagnosis from four oncologic centers in northeast Mexico from 2016 to 2023. - 32.7% had at least one germline pathogenic variant (GPV) in non-BRCA genes. - The five most frequent non-BRCA genes were CHEK2, PALB2, MUTYH, CDKN2A, and ATM. #genetics #breastcancer #riskassessment #CHEK2 #notjustBRCA https://lnkd.in/g8jSqGKt

October is #BreastCancerAwareness month. Most breast cancers occur in women, although men can get breast cancer too. Research suggests that the primary reason many women develop breast cancer is because their breast cells are exposed to the female hormones - estrogen and progesterone. Major risk factors that are related to developing breast cancer are: • Age - risk increases with age and it mostly occurs in women between the ages of 50 and 69. • History of cancer - those who have had breast cancer in the past have a higher risk of developing breast cancer again. The new breast cancer can develop in the same breast as the first cancer or in the other breast. • Dense breasts - people with dense breast tissue have a higher risk of developing breast cancer than those with little or no dense breast tissue. • Genetic mutations - some gene changes can increase the risk of developing certain types of cancer. Check out this detailed article by the Canadian Cancer Society for more information on this important topic. Please take the time to stay informed and perform self-checks along with routine mammograms via your doctor. Share with your loved ones 💛 #BreastCancer #PreventativeHealth

📋 "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:

Cancer and p53: Post-COVID Impact? Hi, what are your thoughts on the role of p53, a key protein, in the increasing prevalence of cancer among younger people? As I understand, p53 is a crucial transcription factor that regulates genes involved in cancer prevention. It plays a significant role in maintaining DNA stability by controlling the cell cycle and promoting DNA repair. When functioning properly, p53 prevents damaged cells from dividing, thereby reducing the risk of cancer. However, mutations in the TP53 gene, which encodes the p53 protein, are common in many cancers and can lead to uncontrolled cell growth and tumor formation. Additionally, the COVID-19 pandemic has been associated with chronic inflammation, partly due to its impact on the p53 protein, which is a critical regulator of inflammation via autophagy, particularly mitophagy. What are your thoughts on the idea that disruption of p53 impairs mitochondrial health by affecting processes such as apoptosis, ROS production, and mitochondrial biogenesis, potentially contributing to the rise in cancer diagnoses among younger people?

📰 New paper published 🚀 I am very pleased to share the latest publication of my PhD published in the Gastric Cancer journal. 🔎 In this work, we suggest CTNND1 as a new gene involved in germline predisposition to early-onset gastric cancer. We hope these findings will help to identify high-risk individuals in order to improve early diagnosis and establish preventive measures in this subgroup of patients. 🌟 I would like to thank to all the co-authors and the Genetic Predisposition to Gastrointestinal Cancer group. Specially, this work would not have been possible without Leticia Moreira, Sergi Castellví and Laia Bonjoch. 👀 Read the full paper here: https://lnkd.in/dt9ASntY