Terry Weber’s Post

Great to see this article reviewing the most recent screening and treatment guidelines for men with BRCA mutations. Even though women's breast and ovarian cancers are most frequently associated with BRCA mutations, men also face risks of cancer due to these genes, and there is much less public awareness of the risk to men. According to Heather Cheng, MD, PhD, the director of the Fred Hutch Prostate Cancer Genetics Clinic, "Not enough men are getting genetic testing to see if they carry a BRCA1 or BRCA2 gene variant that increases their cancer risk. . . . And the men who know they are carriers get tested for their daughters, but don't always know why it's important for their own health." It's a subject close to my heart, as my own grandfather died of a very aggressive prostate cancer--undoubtedly due to the same BRCA1 mutation I inherited. The mutation has been evident in five generations of my family, with more males currently living with our family mutation than females. Although two of my own sons inherited my BRCA1 mutation, that knowledge is allowing them to be proactive in their health care. Knowledge gained from genetic testing, together with appropriate medical surveillance, saves lives! Dr. Cheng is the lead author of BRCA1, BRCA2, and Associated Cancer Risks and Management for Male Patients, JAMA Oncology (2024). DOI: 10.1001/jamaoncol.2024.2185 My Faulty Gene #brca #malecancer #knowyourrisk #cancerrisk #genetictesting #prostatecancer #pancreaticcancer #malebreastcancer #breastcancer #ovariancancer #melanoma

𝗣𝗿𝗼𝘀𝘁𝗮𝘁𝗲 𝗰𝗮𝗻𝗰𝗲𝗿 𝘁𝗿𝗲𝗮𝘁𝗺𝗲𝗻𝘁 𝗶𝘀 𝗲𝘃𝗼𝗹𝘃𝗶𝗻𝗴 𝗮𝗻𝗱 𝗶𝘁 𝗶𝘀 𝗻𝗼𝘁 𝗿𝗲𝘀𝘁𝗿𝗶𝗰𝘁𝗲𝗱 𝘁𝗼 𝗣𝗔𝗥𝗣 𝘀𝗲𝗻𝘀𝗶𝘁𝗶𝘃𝗶𝘁𝘆! 🔬 𝐃𝐢𝐝 𝐲𝐨𝐮 𝐤𝐧𝐨𝐰 ❓ 𝐭𝐡𝐚𝐭 𝐠𝐞𝐧𝐞𝐭𝐢𝐜 𝐦𝐮𝐭𝐚𝐭𝐢𝐨𝐧𝐬 𝐢𝐧 𝐇𝐑𝐑 𝐠𝐞𝐧𝐞𝐬 𝐥𝐢𝐤𝐞 𝐁𝐑𝐂𝐀2, 𝐀𝐓𝐌 𝐚𝐧𝐝 𝐂𝐃𝐊12 𝐜𝐚𝐧 𝐛𝐨𝐨𝐬𝐭 𝐲𝐨𝐮𝐫 𝐢𝐦𝐦𝐮𝐧𝐞 𝐬𝐲𝐬𝐭𝐞𝐦'𝐬 𝐫𝐞𝐬𝐩𝐨𝐧𝐬𝐞 𝐭𝐨 𝐜𝐚𝐧𝐜𝐞𝐫 𝐭𝐡𝐞𝐫𝐚𝐩𝐢𝐞𝐬. 💠 𝐇𝐑𝐑 𝐠𝐞𝐧𝐞 𝐦𝐮𝐭𝐚𝐭𝐢𝐨𝐧𝐬 can lead to higher levels of tumor-specific neoantigens, which can make the cancer more recognizable to the immune system. Studies have found that 𝐩𝐫𝐨𝐬𝐭𝐚𝐭𝐞 𝐜𝐚𝐧𝐜𝐞𝐫𝐬 with HRR gene mutations are more likely to have higher tumor mutational burden and microsatellite instability, both of which are associated with increased immunogenicity. 💠  This makes these tumors more responsive to immunotherapies.  The increased immunogenicity of 𝐇𝐑𝐑-𝐦𝐮𝐭𝐚𝐭𝐞𝐝 𝐩𝐫𝐨𝐬𝐭𝐚𝐭𝐞 𝐜𝐚𝐧𝐜𝐞𝐫𝐬 has important clinical implications. Patients with these mutations may be more likely to benefit from immune checkpoint inhibitors and other immunotherapies. #PrecisionOncology #Immunotherapy #ProstateCancer

𝗣𝗿𝗼𝘀𝘁𝗮𝘁𝗲 𝗰𝗮𝗻𝗰𝗲𝗿 𝘁𝗿𝗲𝗮𝘁𝗺𝗲𝗻𝘁 𝗶𝘀 𝗲𝘃𝗼𝗹𝘃𝗶𝗻𝗴 𝗮𝗻𝗱 𝗶𝘁 𝗶𝘀 𝗻𝗼𝘁 𝗿𝗲𝘀𝘁𝗿𝗶𝗰𝘁𝗲𝗱 𝘁𝗼 𝗣𝗔𝗥𝗣 𝘀𝗲𝗻𝘀𝗶𝘁𝗶𝘃𝗶𝘁𝘆! 🔬 𝐃𝐢𝐝 𝐲𝐨𝐮 𝐤𝐧𝐨𝐰 ❓ 𝐭𝐡𝐚𝐭 𝐠𝐞𝐧𝐞𝐭𝐢𝐜 𝐦𝐮𝐭𝐚𝐭𝐢𝐨𝐧𝐬 𝐢𝐧 𝐇𝐑𝐑 𝐠𝐞𝐧𝐞𝐬 𝐥𝐢𝐤𝐞 𝐁𝐑𝐂𝐀2, 𝐀𝐓𝐌 𝐚𝐧𝐝 𝐂𝐃𝐊12 𝐜𝐚𝐧 𝐛𝐨𝐨𝐬𝐭 𝐲𝐨𝐮𝐫 𝐢𝐦𝐦𝐮𝐧𝐞 𝐬𝐲𝐬𝐭𝐞𝐦'𝐬 𝐫𝐞𝐬𝐩𝐨𝐧𝐬𝐞 𝐭𝐨 𝐜𝐚𝐧𝐜𝐞𝐫 𝐭𝐡𝐞𝐫𝐚𝐩𝐢𝐞𝐬. 💠 𝐇𝐑𝐑 𝐠𝐞𝐧𝐞 𝐦𝐮𝐭𝐚𝐭𝐢𝐨𝐧𝐬 can lead to higher levels of tumor-specific neoantigens, which can make the cancer more recognizable to the immune system. Studies have found that 𝐩𝐫𝐨𝐬𝐭𝐚𝐭𝐞 𝐜𝐚𝐧𝐜𝐞𝐫𝐬 with HRR gene mutations are more likely to have higher tumor mutational burden and microsatellite instability, both of which are associated with increased immunogenicity. 💠  This makes these tumors more responsive to immunotherapies. The increased immunogenicity of 𝐇𝐑𝐑-𝐦𝐮𝐭𝐚𝐭𝐞𝐝 𝐩𝐫𝐨𝐬𝐭𝐚𝐭𝐞 𝐜𝐚𝐧𝐜𝐞𝐫𝐬 has important clinical implications. Patients with these mutations may be more likely to benefit from immune checkpoint inhibitors and other immunotherapies. #PrecisionOncology #Immunotherapy #ProstateCancer

𝗣𝗿𝗼𝘀𝘁𝗮𝘁𝗲 𝗰𝗮𝗻𝗰𝗲𝗿 𝘁𝗿𝗲𝗮𝘁𝗺𝗲𝗻𝘁 𝗶𝘀 𝗲𝘃𝗼𝗹𝘃𝗶𝗻𝗴 𝗮𝗻𝗱 𝗶𝘁 𝗶𝘀 𝗻𝗼𝘁 𝗿𝗲𝘀𝘁𝗿𝗶𝗰𝘁𝗲𝗱 𝘁𝗼 𝗣𝗔𝗥𝗣 𝘀𝗲𝗻𝘀𝗶𝘁𝗶𝘃𝗶𝘁𝘆! 🔬 𝐃𝐢𝐝 𝐲𝐨𝐮 𝐤𝐧𝐨𝐰 ❓ 𝐭𝐡𝐚𝐭 𝐠𝐞𝐧𝐞𝐭𝐢𝐜 𝐦𝐮𝐭𝐚𝐭𝐢𝐨𝐧𝐬 𝐢𝐧 𝐇𝐑𝐑 𝐠𝐞𝐧𝐞𝐬 𝐥𝐢𝐤𝐞 𝐁𝐑𝐂𝐀2, 𝐀𝐓𝐌 𝐚𝐧𝐝 𝐂𝐃𝐊12 𝐜𝐚𝐧 𝐛𝐨𝐨𝐬𝐭 𝐲𝐨𝐮𝐫 𝐢𝐦𝐦𝐮𝐧𝐞 𝐬𝐲𝐬𝐭𝐞𝐦'𝐬 𝐫𝐞𝐬𝐩𝐨𝐧𝐬𝐞 𝐭𝐨 𝐜𝐚𝐧𝐜𝐞𝐫 𝐭𝐡𝐞𝐫𝐚𝐩𝐢𝐞𝐬. 💠 𝐇𝐑𝐑 𝐠𝐞𝐧𝐞 𝐦𝐮𝐭𝐚𝐭𝐢𝐨𝐧𝐬 can lead to higher levels of tumor-specific neoantigens, which can make the cancer more recognizable to the immune system. Studies have found that 𝐩𝐫𝐨𝐬𝐭𝐚𝐭𝐞 𝐜𝐚𝐧𝐜𝐞𝐫𝐬 with HRR gene mutations are more likely to have higher tumor mutational burden and microsatellite instability, both of which are associated with increased immunogenicity. 💠  This makes these tumors more responsive to immunotherapies. The increased immunogenicity of 𝐇𝐑𝐑-𝐦𝐮𝐭𝐚𝐭𝐞𝐝 𝐩𝐫𝐨𝐬𝐭𝐚𝐭𝐞 𝐜𝐚𝐧𝐜𝐞𝐫𝐬 has important clinical implications. Patients with these mutations may be more likely to benefit from immune checkpoint inhibitors and other immunotherapies. #PrecisionOncology #Immunotherapy #ProstateCancer

(CLOSED CAPTIONS) We are frequently told that cancer is caused by the accumulation of genetic mutations, but this paradigm doesn't hold up under closer scrutiny. For one, many hunter-gatherer groups around the world show little evidence of cancer and not because of shortened lifespans either — analyses have found a common lifespan of up to 78 years among hunter-gatherers, once the bottleneck of high infant mortality is bypassed. Additionally, cancer incidence at different sites VARIES WIDELY. For example, colorectal cancer is very common while small intestinal cancer is 100 times less common despite the fact that the small intestine is five times longer (30 feet versus 6 feet for the colon) and characterized by nearly identical rates of mutation as the colon. Contrary to conventional wisdom, the accumulation of genetic mutations is not sufficient to cause cancer; the TUMOR MICROENVIRONMENT must also be taken into account. In other words, the same mutation that is adaptive for cancer in altered tissue is not advantageous to cancer in healthy, homeostatic cells. A new study in Nature by Parreno et al. explores the role of epigenetic alterations in the initiation and progression of cancer. Researchers found that temporary disruption of Polycomb group proteins led to IRREVERSIBLE CHANGES IN GENE REGULATION, including those responsible for cell growth and tumor formation. These findings suggest that cancer can emerge through epigenetic dysregulation, even in the absence of driver mutations!

Elements of madness in the Medical sector. Insulin promotion - poor ageing Fat usage/Ketogenesis/Gluconeogenesis + exercise - healthy ageing Poor ageing - epigenomic/genomic instability Healty ageing - diseases of ageing protective/preventative As simple as that.

Everyone has a "surprise" cancer story - whether it happened to them or a loved one. This data from our Tapestry program with Mayo shows how we can get ahead of many surprises through population-level, enterprise genomic strategies. Link to the full study, "Exome Sequencing Identifies Carriers of the Autosomal Dominant Cancer Predisposition Disorders Beyond Current Practice Guideline Recommendations," can be found here: https://lnkd.in/dNBQNwdZ

Prostate cancer disproportionately impacts men of African descent, with the highest global incidence and mortality rates. A recent genome-wide association study (published in Nature) involving 7,500 participants across African regions, has identified genetic factors linked to aggressive prostate cancer. The study highlights three key gene loci and 15 unique genetic variants, revealing diverse evolutionary impacts across the African regions. Studies of this caliber at least promise improved cancer risk models and underline the importance of inclusivity in scientific research. Collaborative efforts like this pave the way for tailored healthcare solutions! Young Pan Africans who are interested in cancer research should conceive ideas that promote the understanding and development of healthcare solutions tailored to our needs!! Solutions by the people for the people!!! #Africa #Science #Cancer #Research https://lnkd.in/e2ZF85Ef

Dear all, I am delighted to share with you our latest publication in Nature Communications. In this study, we present the first genetic evidence in humans demonstrating that a mutation in the alternatively spliced exon-beta of the pivotal tumour suppressor gene TP53 (p53β) predisposes individuals to familial cancer. These findings underscore the critical importance of p53 isoforms and highlight the necessity of comprehensive investigations into the entire TP53 gene to fully understand cancer predisposition. At present, the alternatively spliced exons (β, γ) of TP53, along with the introns, 3'UTR, 5'UTR, and both proximal and distal promoters, are either not routinely sequenced, or when mutations are identified in these regions, they are often not reported or considered by clinicians. This oversight hinders effective genetic monitoring and may expose patients to treatments, such as radiation therapy, that could lead to the development of secondary tumours. We anticipate that this may also hold true in sporadic cancer cases, where these regions are frequently overlooked. We hope this research encourages a more thorough examination of the TP53 gene in clinical practice, ultimately improving cancer risk assessment and patient outcomes. here is the link to our publication or open attached document https://lnkd.in/euB9Ye5W Best Regards Jc Bourdon

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