VSC’s Post

As a #geneticcounselor, I would like to present a summary of the #NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) for Genetic/Familial High-Risk Assessment: #Breast, #Ovarian, and #Pancreatic. These guidelines are designed to accommodate the evolving field of molecular #genetics and the necessity for flexible application in clinical practice. These guidelines are an indispensable resource for healthcare professionals, enabling the identification of candidates for #cancerriskassessment, genetic counseling, and testing. They provide an updated framework for assessing risks for breast, ovarian, and pancreatic cancers and guide genetic testing decisions. Additionally, they advocate for a multidisciplinary approach to the management of individuals with #hereditarycancerpredispositions. Recent updates include a new section for #transgender, #nonbinary, and #gender-diverse individuals with hereditary cancer risk, focusing on risk reduction for ovarian, #uterine, prostate, and breast cancers. The guidelines also refine testing criteria and management protocols for #TP53 #pathogenic/ likely pathogenic variants and #LiFraumenisyndrome (LFS), ensuring they remain pertinent and scientifically robust. #Oncogenetics #BGCI #Geneticcounseling #4BaseCare #Medgenome #Strand #Karkinos #Rochediagnostics #Drlalpathlabs #Illumina #SophiaGenetics #GuardantHealth #FoundationOne #KasturbaMedicalCollege #MumbaiOncologyCentre #TataMemorialHospital #PrecisonOncology

Source: Cancers High pretreatment DHEA levels are associated with poor clinical outcomes in patients with metastatic non-small cell lung cancer (NSCLC) treated with immune checkpoint inhibitors (ICIs). A study found that patients with high DHEA levels had significantly shorter progression-free survival (PFS) and overall survival (OS) compared to those with low DHEA levels. This suggests that sex hormone levels may influence the response to ICIs in NSCLC patients.

‼️Updated ASCO guidelines on genetic testing for individuals with breast cancer are here. The implications of these new recommendations are significant for our patients since more patients can get tested which allow for access to appropriate therapy or intervention. A few key takeaways… 🎯 </= 65 years old: ALL patients with newly diagnosed breast cancer (regardless of clinical subtypes) should be offered BRCA 1/2 testing ➡️ this is a big change! 🎯 > 65 years old: ALL patients with newly diagnosed breast cancer should be offered BRCA 1/2 testing if they are candidates for PARP inhibitor drugs, have triple negative disease, male sex at birth, based on personal and or family history and ancestry. 🎯 ALL patients with recurrent breast cancer (locally advanced or metastatic) who are candidates for PARP inhibitor drugs should be offered BRCA 1/2 testing, regardless of family history. 🎯 Testing for other genes besides BRCA such as PALB2, ATM, CHEK2, PTEN should be offered based on personal or family history. 🎯 Patients undergoing genetic testing should be given sufficient information about the test before testing to provide informed consent. Consultation with a genetic counselor expert is important and patients should have access to a genetic counselor. #breastcancer #genetictesting #geneticcounseling #womenshealth

Exploring Fertility-Sparing Treatments for Larger Cervical Cancers: A Systematic Review A systematic review examines the reproductive outcomes for women with cervical cancer tumors larger than 2 cm who have undergone fertility-sparing treatments (FST). The review found that FST can lead to successful pregnancies and live births, but there is a risk of miscarriage. The review calls for further research to improve the reliability of FST outcomes and understanding of the risk-benefit ratio. It also emphasizes the need for careful decision-making in clinical settings and advocates for standardized methodologies and larger participant groups in future studies. For more details please click the link! https://lnkd.in/gucP69xH #marketaccess #reimbursement #pricing #hta #heor #healtheconomics #medicaldevices #pharmaceutical

We have just published in Journal of Medical Genetics showing that the decision to remove the exclusion of low grade (grade 1) breast cancer as a criteria for genetic testing in England under age 40 was misplaced. BRCA1, BRCA2 and PALB2 gene faults are typically associated with high grade cancers. We show that the rate of gene faults in the three main genes in grade 1 breast cancer is no higher than in women in the general population with no cancer. Under age 40 only two of 200 (1%) with grade 1 cancers had a gene fault (both with strong family histories) compared to over 6% with grade 3 cancers aged 40-49 who did not meet other testing criteria. Women with grade 3 cancers typically require chemotherapy and are much more likely to benefit from targeted therapy with PARP Inhibitors. Whereas grade 1 cancers rarely require chemotherapy. Any decision to expand testing criteria should therefore have prioritised testing older women with high grade cancers over younger low grade. The decision taken to remove the exclusion of grade 1 cancers is therefore illogical.

In a recent study of 30,000 patients treated with CAR-T therapy, second cancers reported are rare. However, the US FDA has monitored around 25 cases of CAR-T cell second cancers, generally lymphomas. Furthermore, researchers do not know how the CAR-T cells became a lymphoma. It is possible that the cells had lymphoma-causing mutations when they were initially collected from the patient and that CAR-T treatment caused the activation and expansion of these cells, that the mutations may have occurred when the CAR-T cells were prepared outside the patient, or that the CAR-T cells may have acquired the mutations after being returned to the patient. For future diagnostic and treatment purposes, the researchers note that switchable cell therapies could allow patients to take a drug to adjust the CAR-T cell activity daily, thereby reducing toxic side effects. 

In a recent study of 30,000 patients treated with CAR-T therapy, second cancers reported are rare. However, the US FDA has monitored around 25 cases of CAR-T cell second cancers, generally lymphomas. Furthermore, researchers do not know how the CAR-T cells became a lymphoma. It is possible that the cells had lymphoma-causing mutations when they were initially collected from the patient and that CAR-T treatment caused the activation and expansion of these cells, that the mutations may have occurred when the CAR-T cells were prepared outside the patient, or that the CAR-T cells may have acquired the mutations after being returned to the patient. For future diagnostic and treatment purposes, the researchers note that switchable cell therapies could allow patients to take a drug to adjust the CAR-T cell activity daily, thereby reducing toxic side effects. 

Our Protease Inhibitor Library is more than just a collection of compounds; it provides comprehensive data on each inhibitor, including mechanisms of action, selectivity profiles, and relevant biological activities. This information supports the informed selection of compounds for your research endeavors. Our library encompasses a diverse range of compounds, from novel preclinical leads to clinical candidates and FDA-approved drugs, all targeting key proteases pivotal in essential research domains such as cancer, inflammation, and combating diseases like HIV/AIDS, Alzheimer’s Disease, Hepatitis C, and more. This collection includes 777 compounds with sub-10 micromolar activity, all validated for purity via NMR and LCMS, ensuring immediate availability for follow-up studies. Additionally, our library is continuously updated, maintaining its status as a cutting-edge resource for research and development efforts. All compounds are in stock and available for hit follow-up. More info: https://lnkd.in/dWzqm2_e

In a recent study published in 𝒆𝑩𝒊𝒐𝑴𝒆𝒅𝒊𝒄𝒊𝒏𝒆, researchers delve into the intricate relationship between 𝐞𝐬𝐭𝐫𝐨𝐠𝐞𝐧 𝐥𝐞𝐯𝐞𝐥𝐬 and 𝐞𝐧𝐝𝐨𝐦𝐞𝐭𝐫𝐢𝐚𝐥 𝐜𝐚𝐧𝐜𝐞𝐫, particularly focusing on Type 1 estrogen-sensitive endometrial cancer affecting menopausal women. 🚺💉 👉 Key Findings: -Obesity is a risk factor for endometrial cancer due to increased estrone production. -Identification of genetic variants, including rs2414098 in the CYP19A1 gene, associated with higher estrone levels and increased cancer risk. -The study involved over 4,900 postmenopausal women, confirming the significance of estrone levels in assessing cancer risk. 🔍 Study Insights: -Genome-wide association study (GWAS) used advanced techniques like LCMS to measure hormone concentrations precisely. -Identification of four independent SNPs linked to estrone levels, shedding light on genetic factors influencing cancer risk. 💡 Implications: -Importance of measuring estrone levels alongside other sex hormones in postmenopausal women to assess cancer risk accurately. -This study contributes to refining risk assessment strategies for endometrial cancer, potentially leading to more targeted prevention and treatment approaches. #endometrialcancer #cancer #estrogen #womenhealth Read more here:

Recent advancements in medical science have made it possible to be tested for genetic factors that could indicate an increase in your risk of certain cancers, including Ovarian Cancer! This #OvarianCancerAwareness Month, learn how this process works and who should consider genetic testing. ⤵️