Geoff Muckle’s Post

🚀 Excited to share our latest publication: "Functional Analysis of BRCA1 3'UTR Variants Predisposing to Breast Cancer"! 🔬 We explored the impact of specific 3'UTR variants on BRCA1 expression, focusing on two variants identified through Whole Exome Sequencing of 400 breast cancer patients. Our findings reveal that one variant, c.*36C>G, appears to disrupt miRNA interaction, leading to increased BRCA1 expression in certain breast cancer cell lines. 🌟 Notably, this variant may offer protection against Triple Negative Breast Cancer, aligning with clinical observations in HR+ patients. A huge step forward in understanding genetic factors in breast cancer risk and progression! 👉 https://lnkd.in/eMHhrXFM #BreastCancerResearch #Genetics #BRCA1 #CancerScience #WomensHealth

Universal genetic testing for newly diagnosed invasive breast cancer may not be as impactful as previously thought. A recent study indicates that while some patients do have germline pathogenic variants, the prevalence is lower than expected in certain groups. Additionally, no significant clinicopathological factors were linked to these variants, suggesting that broad testing may not always be necessary. 🔬 The study emphasizes the need for more targeted testing strategies and data from diverse populations. This approach will help us better understand genetic risks for breast cancer and optimize the use of genetic testing resources. 🌍 Recent consensus panel guidelines recommend offering BRCA1/2 testing to women with breast cancer who do not meet age-based criteria but are candidates for PARP inhibitor therapy for early-stage or metastatic disease. Candidacy is based on eligibility criteria from clinical trials for BRCA-associated metastatic breast cancer, as well as OlympiA criteria for early-stage disease. 🧬 Read the full article in the comments below! Do you recommend genetic testing to all patients with invasive breast cancer? #bcms #brca #genetictesting

**Increased Breast Cancer Risk in Women with Primary Ovarian Insufficiency (POI)** -A recent study highlights an increased risk of breast cancer among women diagnosed with Primary Ovarian Insufficiency (POI). - The majority of breast cancer cases were invasive ductal (93%) and estrogen receptor-positive (77%).  -28% never took HRT, and only 11% used HRT after age 50. - Genetic testing in a small subset showed no pathogenic mutations, though one woman had a BRIP1 variant of uncertain significance. - 89% of the women had a family history of various cancers. This study underscores the importance of careful monitoring and personalized care for women with POI, particularly in terms of breast cancer risk. OncoDaily OncoAlert #BreastCancerAwareness #OncologyResearch

📰 Publication Alert: Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer As we embrace Breast Cancer Awareness Month, it's essential to highlight the latest advancements in cancer care. Although regular screening decreases breast cancer incidence it is good to know your options. 👉 A recent study published in #JAMA Network Open explores the importance of universal genetic testing in women newly diagnosed with invasive breast cancer. Conducted across three hospitals in Montreal, the study offers significant insights into the prevalence of germline pathogenic variants in BRCA1, BRCA2, and PALB2 as well as additional 14 breast cancer susceptibility genes. Key findings include: - 7.3% of patients tested positive for germline pathogenic variants. - 5.3% carried variants in #BRCA1, #BRCA2, or #PALB2. - 33.3% of BRCA1, BRCA2, or PALB2 positive patients were eligible for targeted therapies like PARP inhibitors. These results emphasize: 🔹 Genetic testing plays a critical role in guiding personalized treatment options for breast cancer,  🔹 It helps identify candidates who may benefit from systemic therapies. 🔹 With more than 1 in 20 patients harboring actionable genetic variants, the need for broader access to genetic testing in breast cancer care is more apparent than ever. 🌐 Explore the full study: https://lnkd.in/gC-3TT5z 📬 Ready to empower your lab with advanced testing? Reach out to us at info@gen-era.com.tr to discuss tailored testing solutions. #GeneticTesting #BreastCancer

So happy this kind of research is being done. The more information we have, the more we can find better ways of both prevention as well as targeted treatment.

October is #BreastCancerAwarenessMonth 🎀 📣 Raising awareness, especially during Breast Cancer Awareness Month, is vital in encouraging proactive health measures. ⏱🔎 Early detection through regular screenings and genetic testing can significantly improve outcomes. Staying informed and proactive about breast health remains crucial for reducing the impact of this common and serious disease. ✨ Understanding the complexities of breast cancer diagnosis, treatment options, and risk factors is essential for effective prevention and treatment. Keep up on international #Guidelines : ESMO has recommended #NGS in advanced/metastatic Breast Cancer at the end of May this year ! https://lnkd.in/e3j5cHAQ From early detection up to care in the advanced setting, diagnostics is the cornerstone to maintain optimal and sustainable care for cancer patients ! #ValueofDiagnostics

Today with MyOme, we announced the launch of an integrated polygenic risk score (iPRS) for personalized breast cancer risk assessment. iPRS, which reports 5-year and lifetime breast cancer risk, offers individuals who receive a negative test result with Natera’s Empower hereditary cancer test the opportunity for further risk assessment using MyOme’s integrated polygenic risk score. “We are excited to partner with MyOme to further enhance the clinical value of Empower and deliver comprehensive insights about breast cancer risk to women and their healthcare providers,” said Ramesh Hariharan, PhD, MBA, general manager of women’s health at Natera. “iPRS addresses a critical need for a cross-ancestry polygenic risk score based on genetic, rather than self-reported, ancestry.” An estimated 1 in 8 women in the United States will be diagnosed with breast cancer in their lifetime. Early detection and treatment are crucial for improving outcomes. https://ow.ly/mGsJ50UntLt

This marks a new age of preventative medicine. Using MyOme’s iPRS for breast cancer to accurately assess risk for those women that are negative for single genes yet have a family history will help patients and physicians develop more personalized screening plans. Partnering with Natera—the leader in women’s health and oncology diagnostics—will impact so many women and save lives. I am grateful to the MyOme team for developing an innovative product and the Natera team for leveraging their infrastructure to make it broadly available. The impact will be profound.

Endometrial cancer is the sixth most common cancer in women worldwide, with more than 417,000 diagnoses in 2020. The incidence of the disease has increased by 132% over the past 30 years and is expected to continue to rise due to an aging population and increasing global rates of obesity and diabetes Recently, several guidelines (ESGO/ESTRO/ESP, WHO, ESMO, NCCN) have recommended POLE mutation testing as a molecular diagnostic for endometrial cancer prognosis. In this newsletter, we will review the importance of POLE mutation testing in endometrial cancer and the testing methods, including the Droplex POLE Mutation Test, which has already been used in three publications. 1) Clinical evaluation of a droplet digital PCR assay for detecting POLE mutations and molecular classification of endometrial cancer. J Gynecol Oncol. 2022 Mar;33(2):e15. (https://lnkd.in/gwBffDC9) 2) Enhanced Risk Stratification in Early-Stage Endometrial Cancer Integrating POLE through Droplet Digital PCR and L1CAM. Cancers (Basel). 2023 Oct 9;15(19):4899. (https://lnkd.in/gj2yFcYT) 3) The new 2023 FIGO staging system for endometrial cancer: what is different from the previous 2009 FIGO staging system? J Gynecol Oncol. 2024 Jan 22. (https://lnkd.in/g3s6_fu2) #Gencurix #POLE #ddPCR #Droplex #Mutations #endometrialcancer #moleculardiagnostics  

Tyrer-Cuzick (v8) scores may under classify risk for minority patients, specifically African American females. However, women of all ancestries can now receive a personalized polygenic breast cancer risk assessment together with the market’s most accurate hereditary cancer test via Myriad Genetics MyRisk Hereditary Cancer Test with RiskScore. MyRisk evaluates 48 genes associated with hereditary cancer risk to identify genetic changes associated with an increased cancer risk. When combined with family history and other clinical factors, MyRisk with RiskScore provides each patient with a cancer risk assessment individualized to them. As the only hereditary cancer test designed for patients of all ancestries, the RiskScore component of MyRisk gives patients both a five-year and lifetime risk estimate of developing breast cancer. This is calculated using a combination of clinical risk factors, family history, and unique genetic, ancestry-informed breast cancer risk markers. #breastcancer #TyrerCuzick #hereditary #cancer #hboc #lynch #prostate #ovarian #colorectal #skin #uterine #endocrine #renal #pancreatic #risk #genetic #Memphis #Arkansas #Tennessee #Mississippi