Dr. Celina M. Nadelman, MD | Fine Needle Aspiration and Biopsy Clinic’s Post

🧬 Unravel the mysteries of the BRCA gene and its link to hereditary breast cancer with Dr. Nadelman's latest blog! Understand the risks, learn about prevention strategies, and discover why knowledge is your best defense. 🎗️ Empower yourself today! ➡️ Read More The BRCA Gene and Hereditary Breast Cancer: Understanding the Link, Risks, and Prevention https://bit.ly/3VR5XTj #BRCAawareness #BreastCancerPrevention #HereditaryCancer

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

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.

Check out this GenomeWeb article highlighting recent research on reduced penetrance pathogenic variants in the BRCA1/2 genes, published in npj Precision Oncology. Ambry was proud to collaborate on this study, which may help redefine how clinicians approach hereditary cancer risk counseling and management, as not all BRCA variants confer the same level of risk. https://hubs.ly/Q02YVGGn0

📋 "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:

The somatic mutation profile of estrogen receptor-positive HER2-negative metastatic breast cancer in Brazilian patients Frontiers https://lnkd.in/g5bgdUG2

Genetics Year in Review: Key Updates to Hereditary Cancer Management in 2024 ✨🔬 Our understanding of hereditary cancer genes is constantly evolving, and new insights bring essential changes to the management of hereditary cancer risks. This year, updates were made to screening recommendations for those with mutations in the ATM, APC (I1307K), BRCA2, and CHEK2 genes. Check out our latest blog to learn more! https://lnkd.in/gwKqTCh3

🎉 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

"All men and women have hereditary cancer genes – breast cancer gene 1 (BRCA1) and breast cancer gene 2 (BRCA2) – which produce proteins to help repair damaged DNA. However, only some have mutations in either of the genes." Read more: https://lnkd.in/gWyPXx3t Prevention is always better than cure. Have you taken the precautionary steps for yourself and your loved ones today? If you have not and would like to know more, DM me or contact me @ 8788 0856! #PreventionIsBetterThanCure #NoGuaranteesInLife #GetProtected #StayProtected

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