Lynch Syndrome, also known as Hereditary Nonpolyposis Colorectal Cancer (HNPCC), is a genetic condition that increases the risk of various cancers, especially colorectal cancer. This disorder is caused by mutations in DNA mismatch repair genes like MLH1, MSH2, MSH6, and PMS2, leading to a higher likelihood of DNA errors during cell division. This blog post will explore Lynch Syndrome, its genetic basis, associated cancer risks, and strategies for prevention and management.
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September is Ovarian Cancer Awareness Month! 🌸 Did you know that 20% of ovarian cancers are linked to inherited gene mutations like BRCA1 and BRCA2? Understanding your genetic risks can help with early detection and prevention. Learn more in our latest blog! 💙 https://lnkd.in/gXagYXHz
Ovarian Cancer Awareness Month: Hereditary Cancer Risks to be Aware Of - Ironwood Cancer & Research Centers
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From JCO Precision Oncology: Exome Sequencing Identifies Carriers of the Autosomal Dominant Cancer Predisposition Disorders Beyond Current Practice Guideline Recommendations https://lnkd.in/ePV2AGGb. Two key takeaways for me: 1. ~54% did not have a personal history of cancer 2. 39.2% of study participants with a pathogenic variant detected in the BRCA or LS genes would not have satisfied NCCN criteria for referral to germline genetic evaluation and testing
Exome Sequencing Identifies Carriers of the Autosomal Dominant Cancer Predisposition Disorders Beyond Current Practice Guideline Recommendations | JCO Precision Oncology
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📋 "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:
Interpreting Results for Hereditary Cancer Genetic Testing
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When it comes to BRCA gene testing, we encourage women to be screened to determine their cancer risks, but half of all people with BRCA mutations are men. Why is it, then, that only one-tenth of men undergo genetic testing compared to women? Apart from determining if they are carriers and testing for their daughters, this mutation comes with many cancer risks to men with the gene as well. A new review published in JAMA Oncology and led by Dr. Heather Cheng, director of the Fred Hutch Prostate Genetics Clinic, shines a light on how male BRCA carriers are affected by this mutation. The mutation impacts men’s risk of prostate, pancreatic, and breast cancers, the latter of which affects 1 in 830 men in the US alone. It’s encouraging to see research in this area that will hopefully drive more men to take proactive steps in their health, especially when it comes to cancer prevention. Read more here: https://lnkd.in/d3582myf #Health #Cancer #TherapeuticWellness
Why men should test for BRCA gene mutations before it's too late
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https://lnkd.in/ddefBHW6 Colorectal Cancer Treatment: Tailor-Made Treatment Arrives. A new therapeutic approach offers hope for patients with the BRAF V600E genetic mutation: precision medicine is increasingly refined.
Colorectal Cancer Treatment: Tailor-Made Treatment Arrives
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A number of inherited genetics and variants have been shown to contribute to 5-10% of all cancers. Catching these inherited traits is critical to early and successful treatment. Our multi-gene panel precisely identifies the presence of inherited gene mutations and alterations. #cancer #oncology #genetics
Cancer Genetic Testing (CGx)
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A recent study from one of our diagnostic labs in India has revealed that 29.1% of breast cancer patients carry BRCA gene mutations, a much higher rate compared to Western populations (typically 5-10%). This highlights the urgent need for population-specific genetic testing in India to address the rising cancer burden. Key Findings: - 68.7% of mutations were in BRCA1, with the c.1961delA variant being the most common. - Younger women (ages 20-45) showed a significantly higher correlation with BRCA-positive status, emphasizing the importance of early screening. - Early detection can lead to personalized treatments like PARP inhibitors, improving outcomes for BRCA-mutated cancers. This study underscores the importance of genetic testing for early intervention, which can empower patients and families with preventive healthcare options and help reduce cancer mortality. Learn more about this important research here: https://hubs.li/Q02P7rBG0
High Prevalence of BRCA Mutations in Indian Breast Cancer Patients: Insights from a Diagnostic Lab
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A recent study highlights the potential benefits of universal genetic testing for breast cancer patients, suggesting it could enhance treatment plans by identifying candidates for advanced therapies. Testing over 700 women with invasive breast cancer, researchers found that 4% carried mutations making them suitable for targeted treatments like PARP inhibitors. Traditionally, genetic testing in Canada has been limited to those with a strong family history or early diagnosis. The study, published in JAMA Network Open, suggests prioritizing testing for BRCA1, BRCA2, and PALB2 mutations, emphasizing the need for meaningful testing that improves patient outcomes without overwhelming the healthcare system.
Universal genetic testing of breast cancer patients could improve treatment plans
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🧬 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
The BRCA Gene and Hereditary Breast Cancer: Understanding the Link, Risks, and Prevention - Dr. Nadelman
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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
Exome Sequencing Identifies Carriers of the Autosomal Dominant Cancer Predisposition Disorders Beyond Current Practice Guideline Recommendations | JCO Precision Oncology
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