#Brca Mutation

I carry the BRCA2 gene. I actually didn’t know that I had it until after my cancer diagnosis. Even knowing what I know now, I don’t believe it would have changed the path I chose. I also chose not to have preventative surgery after my diagnosis. This was not a decision I made lightly. I want to be clear that I have nothing but respect for women who have done surgery. Everyone deserves to make the decision that feels most aligned with them. But my story ultimately chose something different. Yes, removing tissue can reduce risk. I read that when I was scouring the internet, binge reading books and asking anyone who would listen to my questions. My dear friend who is an MD and breast pathologist told me to get the mastectomy; I remember her saying on one of our lengthy phone conversations “get it over with and behind you”. And I just couldn’t align even WITH a diagnosis. But my journey led me to learn more about epigenetics the idea that while genes can increase risk they don’t determine DESTINY. Our internal environment matters…Inflammation, stress, trauma, nutrition, lifestyle, toxic exposures, chemicals/ air, water….. it can all influence how genes express in the body. For me, the deeper question became: what kind of terrain did I create for unhealthy cells to thrive? After experiencing heavy events in my life, moldy apartments….my focus shifted. I chose to focus on changing the environment within my body and my life. Reducing stress. Healing trauma. Supporting my immune system. Creating a terrain where healthy cells thrive. Obviously medicine was involved too but yanking weeds and creating a healthy garden was what I kept my eyes on. I talk with so many women in this community. Some carry a cancer gene but have never had cancer. Some have had cancer. And many share how overwhelming the decisions can feel especially when it seems like there is only one “right” path and that’s the funny thing. We don’t belong in a box… so much can happen outside of it. None of this is about certainty or guarantees. It’s simply the path that felt right for me🤍

Follow @nextgenmed2.0 The BRCA1 gene mutation is a hereditary change in the BRCA1 gene, which is responsible for producing a protein that helps repair damaged DNA. This gene normally acts as a tumor suppressor, playing a critical role in maintaining the stability of a cell’s genetic material. When the BRCA1 gene is mutated, its ability to repair DNA is compromised, which can lead to uncontrolled cell growth and a significantly increased risk of certain cancers. Most notably, individuals with a BRCA1 mutation have a much higher lifetime risk of developing breast and ovarian cancers compared to the general population. The mutation can also elevate the risk of other cancers, including prostate, pancreatic, and male breast cancer, although these are less common. Both men and women can inherit and pass on a BRCA1 mutation. Genetic testing can identify this mutation, and individuals who carry it often take proactive measures to manage their risk. These may include enhanced screening protocols, preventive surgeries such as mastectomy or oophorectomy, and medications aimed at reducing the likelihood of cancer development. #BRCA1 #BRCAgene #GeneticMutation #CancerAwareness #HereditaryCancer #BreastCancerAwareness #OvarianCancerAwareness #RareDiseases #RareMedicalCases #MedicalEducation #MedStudentLife #GeneticsInMedicine #MedicalContent #HealthAwareness #PreventiveMedicine #DNARepair #Oncology #GeneticTesting #MedicalCommunity #InstaMedicine #MedLife #MedicalFacts #ScienceBasedMedicine #MedicineMatters #MedTalks #ClinicalCases

In 2022, my cousin found out they were BRCA2 positive, which is a genetic mutation that can be passed down through family and greatly increases the risk of certain cancers. They encouraged me to get tested… and I didn’t rush. I was actually the last in my family to do it.
But when I finally did, I found out I was positive too. That test changed everything. Because once we knew, doctors checked me more closely, and we found out I had breast cancer. I also chose surgery to reduce my risk of ovarian cancer. It’s been a journey I never expected… but I’m so grateful I had the chance to get ahead of it. Early knowledge gave me options. If someone in your family mentions genetic testing, listen. I’m so happy I did. 😊

In the 90’s, BRCA genes were just identified. 30 years later, what we know and what we can do has changed everything. The Basser Center for BRCA at @pennmedicine was created to make sure that progress never slows. As the world’s first comprehensive center dedicated to BRCA research, we’ve been at the forefront of every breakthrough from FDA-approved targeted therapies to cancer interception. And we’re just getting started.

I’m really just trying to grasp the reality of what happened today. I’m so tired, but I’m so full of fear that I can’t turn my brain off. Originally, I was tested for the BRCA mutation. I tested negative for that. But after noting some red flags, the lab requested additional genetic testing. I got those results this week. These results have changed my entire future. I know I should be grateful to have this knowledge so I can plan. So I can take precautions. But instead, I feel like I was just given a sentence. I feel like I’m just waiting for the inevitable now…. This upcoming week is full of medical appointments for me. And if you know anyone about me, that in itself is my nightmare. Going to the dentist is terrifying enough! First up, a punch biopsy. (Hopefully with a side of a strongggg numbing med) Stay tuned… this could be one hell of a ride. (Sorry, my dark humour is coming out strong tonight) • #genemutation #CDKN2A #laughteristhebestmedicine

Answers are a blessing. 🙏🏻 AND I just wish it weren’t another new thing to have to try and treat and deal with. 👉🏻I’m glad to know there’s a REASON I keep getting sinus infections, wheezing, colds, etc, & that nothing has helped it in months. Grateful there IS a treatment to try. 🙏🏻 😩AND just so exhausted, filled with grief again, wishing I could just “feel better” and NOT be sick or sicker over and over. 🌟No one ever told me how much #breastcancertreatment could or would impact my body, mind, life forever. 🫠 👉🏻They don’t tell you how many live with chronic consequences of chemo and surgery and radiation. Like, for me, CNS dysfunction, neuropathy, hypertension & cardiovascular issues, POTS, MCAS, & way worse Ehlers Danlos Syndrome, psoriasis, brain fog, headaches, menopause🥵 (hysterectomy because of #brcamutation ), balance issues, permanent abdominal and pelvic floor and bowel damage, chronic constipation, & PTSD… …and all the symptoms/issues these illnesses/issues cause too!😳 It’s a LOT. 🤯 And days like today it overwhelms me. 😖 👉🏻So we wait for insurance to approve infusions. And then we start like chemo, in the chemo infusion center, hoping that these infusions don’t simultaneously break my body while it’s also supposedly saving me. 🌟 I think I deserve a blizzard from DQ.🍦 ❓Questions? Relate? What long term effects of treatment do you have? Anyone else dealing with low IG?💕 #breastcancerwarrior #immunoglobulin #weakimmunesystem #chemotherapysideeffects #cancertreatment #hypertension #pots #potssyndrome #mastcell #chronicillnesswarrior #breastcancertrauma #breastcancerawareness #chronicwarrior #ivig #lifeafterbreastcancer #lifeaftercancer #lifeafterchemo #breastcancerjourney #potsawareness #mastcellactivationsyndrome #survivingbreastcancer #tnbc #cancertreatment #breastcancerrecovery #diep #breastcancersurvivor #breastcancersurvivorship #thisishowwegrow

#1 Getting 10,000 steps per day significantly decreases your risk of 13 different types of cancer #2 Less than 10% of breast cancers are hereditary or directly caused by a gene mutation #3 The amount of radiation in a mammogram is comparable to what you get flying across the US #4 Having soy products in your diet actually decreases your risk of breast cancer #5 Men have a 1:1000 chance of getting breast cancer, which jumps to 1:13 with a BRCA mutation #6 Thanks to amazing advances in treatment, breast cancer survival rates have tripled over the past 60 years, with survival rates now over 90% for most early stage breast cancers

Synthetic lethality is a type of cancer treatment that targets specific genetic mutations in cancer cells, while leaving healthy cells unharmed. In the case of BRCA mutant breast cancer, synthetic lethality treatments are designed to selectively kill cancer cells that have mutations in the BRCA1 or BRCA2 genes, which are important for repairing DNA damage. The idea behind synthetic lethality is to identify other genes or proteins that work together with BRCA1 or BRCA2 to repair DNA damage, and then develop drugs that target these genes or proteins. By inhibiting these "partner" genes, the cancer cells become unable to repair their damaged DNA, leading to their death. For example, one synthetic lethality treatment that has been developed for BRCA mutant breast cancer is a drug called PARP inhibitors. PARP is a protein that normally helps to repair damaged DNA, but in cancer cells with BRCA mutations, PARP becomes critical for survival. By inhibiting PARP, the cancer cells with BRCA mutations are unable to repair their damaged DNA and eventually die. #syntheticlethality #BRCAmutation #breastcancer #cancertreatment #geneticmutations #DNArepair #PARP #PARPinhibitors #precisionmedicine #oncology #cancerresearch #cancertherapy #genetictesting #chemotherapy #radiationtherapy #health #medicine #research #science

Basal cell carcinoma (BCC) is the most common type of skin cancer, but it’s also the most treatable if caught early. 🩺 It often appears as a pearly bump or red patch on areas of the skin exposed to the sun, like your face or neck. ☀️ While BCC doesn’t usually spread, it can cause significant damage if left untreated. Early detection is key to protecting your skin from further harm. If you notice anything unusual, don’t wait—get it checked out by a dermatologist! 🩹💡 cr: @jorjaxuereb (TT) #BasalCellCarcinoma #SkinCancerAwareness #ProtectYourSkin #SkinCancerPrevention #DermatologistTips #EarlyDetection #HealthySkinTips #SunSafety #SPFProtection #SkinCareAwareness #DermatologyEducation

How did you handle it when your sibling or child was ready for genetic testing? When my 22 year old little sister @camrynamore told me she was ready to get tested for the BRCA mutation, before we did anything else, I suggested we go on walk. Long walks and deep talks have always been our thing and I didn’t want to make this moment feel more intense than it needed to with a sit down. Even though she said she was feeling good about testing, I still felt a responsibility to prepare her for what might be ahead, in case she tested positive. I couldn’t help but think about how much my life changed after getting my results… But when I was thinking about what I wanted to say, I realized it wasn’t my job to go over her potential risk, overwhelm her with every fact, every outcome, every “what if.” I have learned so much over the last eight years, it’s hard sometimes to know which hat to wear. But I’m reminding myself that Cammy doesn’t need me to be an expert, my most important role is just being her sister and there is a very fine line between protecting and projecting. To help take the pressure off me to get it all “right”, I’m helping her find the right team, starting with a genetic counselor (something I never had) and just taking it one step at a time 🤍 #brca #genetictesting

BRCA negativă acum 10 ani. Retestarea de azi a schimbat totul. Un rezultat BRCA1/BRCA2 negativ obținut acum 10–15 ani nu înseamnă neapărat că mutația nu exista, ci uneori că nu a putut fi detectată la momentul respectiv. Există mai multe explicații posibile: Tehnologia de testare s-a îmbunătățit mult. Testele de acum 10–15 ani analizau uneori doar mutațiile cele mai frecvente sau anumite porțiuni ale genei. Metodele actuale (de tip NGS) pot identifica mult mai multe variante, inclusiv mutații rare. Unele mutații nu erau cunoscute atunci. O variantă genetică poate fi detectată, dar clasificată inițial ca „variantă cu semnificație incertă”. Pe măsură ce apar mai multe date științifice, aceeași variantă poate fi reclasificată ulterior ca patogenă. Testele vechi nu detectau toate tipurile de mutații. De exemplu, anumite deleții sau duplicații mari ale genei BRCA nu erau incluse în unele teste mai vechi. Interpretarea genetică evoluează constant. Baza de date globală de mutații este mult mai bogată acum decât era acum un deceniu, ceea ce permite o interpretare mai precisă. De aceea, în unele situații – mai ales dacă există istoric familial sau suspiciune clinică puternică – retestarea genetică după câțiva ani poate aduce informații noi și relevante pentru pacientă și familie. #brca #genetic #breast #cancer #cluj

Life is so precious. Be present. 💗⠀ ⠀ ⠀ ⠀ ⠀ #mywholeheart #previvormom #lifeisprecious #lifeisshort #bepresent #previvorjourney #previvorstrong #mastectomyrecovery #mastectomyreconstruction #brca1 #brcasisterhood #brcastrong #previvors #brcamutation