Welcome to my channel! If you're a healthcare provider in oncology or have a personal or family history of cancer or if you have a genetic mutation that increases your risk of cancer, this channel is for you!
I'm a Certified Genetic Counselor specialized in Hereditary Cancer. I'm passionate about empowering people with information about cancer genetics, clarifying genetic test results, clearing up misconceptions, and educating healthcare providers about hereditary cancer syndromes.
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This RU-vid channel is not intended to provide diagnosis, treatment, or medical advice. Content provided on this RU-vid channel is for informational purposes only and should not be considered as a substitute for advice from a healthcare professional.
Thank you for this information. I hadn't realized that the cancer woes in my family could all be linked. My Maternal Great Grandmother had breast cancer, my maternal grandmother had intestinal cancer, my mother was just diagnosed with pancreatic cancer, and my younger brother has been fighting undifferentiated pleomorphic sarcoma (rarest of the rare) for 18 months. I'm going to see if my VA Health Care Provider will get me this testing. I worry for myself, my sister and my nephew!
Sorry to hear about the family history. You definitely qualify for genetic testing and it could provide very useful information for you and your family.
Did you say 23andMe is the better option if Im adopted? That was a little confusing. Im adopted, know nothing about my biological family, and really trying to figure out if Im susceptible to anything.
I did 23andme before they did health reports and I upgraded later on and found out I have hereditary hemochromatosis. I was suffering symptoms for years and this was the piece of the puzzle I needed. It saved my life.
Sir, My relatives NGS report has been processed and results are here- TP53 mutations have been reported in various solid tumors including high grade sarcomas. These mutations have been associated with enhanced proliferation and invasion and hence an aggressive phenotype. In few studies, pazopanib has been shown to marginally increase progression free survival in advanced TP53 mutant advanced sarcomas. Therapies considering reconstruction of P53 mediated pathways are in various phases of clinical trials. What should be done for TP53 mutation, is there any treatment option available for this. Sir, kindly reply sir.. The type of Cancer is LMS, it's high grade, stage IV
This video just popped up in my RU-vid feed. Hopefully your genetic counseling career is going well. And yes, I think your comments on 23&Me were spot-on and just as useful three years later. For the life of me, I don't know why people don't just get fully sequenced and be done with it. If medical grade testing is required, 100x full genome sequencing is more of a one-and-done approach. That way, you can shop the tools or services you want to use for analysis in any particular area of specialty, whether oncology, nutrition, autoimmunity, ancestry, pharmacology, genetic counseling about particular concerns, etc. My wife and I were early adopters of 23&Me (around the time they had their battles with the FDA). At the time, it was interesting and helpful. However, as I became more proficient and started digging into specific genes and SNPs related to areas of my health I was studying, I kept hitting roadblocks because of the sparse data. Finally, I got 30x full genome sequencing through Nebula. (30x sequencing is plenty for most applications except the most dangerous, life-changing, genetic diseases where you want to be 100% sure.) That company has their own quirks, but having my full genome data has been incredibly helpful, and having downloaded all my data, I have a lot more flexibility. I've used my own genetic data to successfully identify and treat a root cause of my autoimmunity, and now four different autoimmune diseases are in remission. At this point, I won't walk into a doctor's office without having related genetic data to help them help me better. "As you can see from this personal report and data, I'm in the 98th percentile for significantly higher risk of several forms of dementia. What recommendations do you have for lowering risk and/or delaying onset, along with a plan for more aggressive early detection/treatment?" That approach is a lot more effective than, "I think my great aunt may have been senile before she died. Should I worry?" As a related side note, modern algorithms and AI solutions can produce drastically different results depending on how questions are asked. My favorite example is to type into Google's search bar "How cn U" or "How can an individual" and compare the search suggestions Google makes without actually doing the searches. The difference is pretty shocking and highlights the importance of how we seek answers, starting with how we frame our questions.
I've got this. I lost my daughter to it, specifically a Choroid Plexus Carcinoma. She was 4 years old. So far no cancer in myself but I'm just waiting for it to happen. I'm 36yo, I get a brain-spine MRI yearly, a colonoscopy yearly, mammograms yearly, and blood tests in general yearly. I'm working with my insurance on getting a preventative mastectomy.
I lost a 12 yr old niece( my sister's child) and my 14 yr old niece(my brothers child) and a 17 yr old cousin to choroid plexus.and another niece had a tumor on the choroid plexus which was removed before it could be cancer.i lost a cousin at 40 and another aunt at age 35
I have it, already had my kids, my daughter was tested, she doesn’t have it. My son chose not to get tested. I’ve survived breast cancer, I’m on long term oral chemo, I pray everyday that I won’t get another tumour. 🙏🏼
Genetic testing is often covered by insurance based on personal and family history. If it’s not covered, most labs offer out-of-pocket testing for $250.
I have men1 and I like to call myself a teenage mutant ninja turtle idk it makes me feel slightly better about being a mutant I also call myself a reverse shark because sharks don’t produce any calcium lol 😂
I found your channel while researching nutritional health gene testing e.g. 10x which tests for COMT, AHCY, MTRR, MTR & MTHFR. But now I am interested in also testing for cancer related mutations, my older half-brother was taken by Pancreatic Cancer.
daughter tested with 23 and me wife myself another daughter and my mum in law with ancestry i transferred mine,wifes and mum in laws to Prometheus. with is a none smoker and not ever worked in a dusty environment she has a 40% educed lung capacity due to copd. looked at wifes report she is mz for alpha1, her mum is zz as is the daughter with 23and me, she has had the clinical tests and they confirm this. mum in laws bother died in his late 50s with liver failure. me and the other daughter are mm normal. so its accurate in some things
Yes, if a mutation is found it might definitely be real and should be confirmed with clinical testing. But negative results can oftentimes be “false negatives”.
I have Lynch Syndrom. I got a Lynch tumor in my bile ducts. The surgeon tried to take the tumor out but unfortunately the cancer grew back. I then got immunotherapy, Nivolumab and within three months the cancer was gone. Immunotherapy, check point inhibitors often work exceptionally well on Lynch tumor if given before the patient had radiotherapy or chemotherapy. It is important to give immunotherapy to Lynch patients as a first line treatment. It then can be curative and not just palliative.
The problem I have with 23 and me. Is it makes it sound like your going to get the stats on whether you are prone to cancer or things. So you pay the extra. And get nothing. Then they keep wanting you to give them more money to find who knows what out. Not doing it its a cheat just a grab for more money. I wanted to find out if I had they genes for Hypertrophic cardiomyopathy. Its genetic and runs in the family. Not even close to any of that
alcohol and tobacco use are big big risk factors for cancer so your family history might be entirely attributed to that but if there’s additional family history of cancer it might be a good idea to see a genetic counselor to determine if genetic testing is recommended for you
Thanks for this video. Just found out this week that my mom has Lynch Syndrome, and I am waiting on my own test results now. My maternal grandmother had endometrial cancer leading to a hysterectomy, then died of colon cancer, so even if I am negative, I want to know all I can about what to expect for my mom.
I recvd my myraid results. Negative for BRCA1 and 2... but a VUS for TP53. I had a mammo. First there was a small questionable area in my left breast. It was very small and could not tell the contents. Doc had me return in 6 months. The spot now had cluster calcification but again small area and wants me to return in 6 months. Im nervous as to if we are just waiting for it to spread or what.
Do you know anything about Promethease? I got a report from them and I have one from Invitea from a hereditary cancer panel. MHS6 (VUS). I have had multiple adenomatous colon polyps removed and my son had polyps removed at 19. Promethease reports are very detailed. You can sort it out multiple ways but kind of complicated. Other things that doctors have suspected with me or I already knew, like being HLA-B27 positive, Leiden Factor 5 (I have a history of DVT), autoimmune risks, etc.
I wrote a paper on this in grad school thirty years ago. It was a review of available research on the genetic implications of tp53 mutations. A couple of the research articles I reviewed stated that if a person had a mutation on one of the tp53 alleles they were at high risk for mutation of the second allele.
Hello I am yash age 22 years I was diagonised with disease of MEN 1 syndrome on 31 may 2023 and DDX41 mutuation variant on 31 may 2023 so mam mene Surgery of parathyriod done 28 july 2023 and whipple procedure done on 6 september sucessfully & Pituatary arachnoid cyst have on follow up . So i ask that mam this problem need regular investigation every 6 months . In case of men 1 tumor can be reoccur mostly or rarely ? And DDX41 have no clinic find in body check up & scan . I am feeling very bad for my future . I also say that my father was died with disease renal cancer stage 4 it is related to men 1 problem ? I request pls reply me .
What about autoimmune diseases? I am diagnosed with lupus and dry eye but it’s amazing how they asked me directly if I have lupus and dry eye found it very interesting
I have non-inherited damage to MSH1 and PMS2, discovered after I was found to have endometrial cancer at age 61. I had a full hysterectomy and radiation (brachytherapy) treatment. I was told I didn't need enhanced surveillance, especially since there's no history of any colon history that we know. My mother was adopted; previous to all of this, I tracked down her biological mother and half brother and they both lived into their 80s. I would be interested to know then what are some of the "environmental" causes that might have created this. I've heard so many different theories, from clinicians and others. Thanks.
I had colon cancer,and pre uterine cancer but i tested negative for Lynch syndrome. My dad had colon cancer my mom uterine. Not sure if i inherited it from them both.
Your knowledge is amazing . You must be science based. Medical grade labs with clinics. Seem necessary for most people after so many disease states 2008-2022
My pathology from my colonoscopy showed retained nuclear staining for MLH1 in one of the polyps (non cancerous). None of my family members have any lynch associated cancers. Should I have genetic testing?
I had unterine poly removed- non cancerous was determned the OB?GYN did a genetic testing, I was diagnosed with "lynch syndrome" he suggested a hysterectomy. There are no women in my entire family that has ever had the need for a hysterectomy no one has died of colon cancer. Most hysterectomy's are not even necessary. Removing an organ that will alter your hormone levels and will shift your your entire mid body for the sake of a "maybe " diagnosis is absolutely reckless. If you have lynch syndrome, leave your uterus and ovaries where they are and go get regular yearly ultrasounds.
Nobody in my family had any cancer, including extended family, except my mother had superficial cancer of the womb. My half sister and I had Lynch Syndrome. Both my grown children have it and my brother has it. Pap smears DO NOT detect Lynch Syndrome. You either have to get a biopsy of the uterus or an internal “wash” that captures cancer cells. Family history should not be the determining factor. Your survival rate is five years if you have Lynch Syndrome. A young man died at 24 after having his colon removed it had spread so far. Do not play around with this.
23andMe I believe have options to download raw data & can that be used to check what other genetic dispositions? If so ; perhaps the other databases like the NIH’s data base?
Thank you for posting this, I have high calcium, low vit D, low phosphorus, high prolactin, inappropriately low parathyroid… This might be what I have.. my endocrinologist has been amazing so far, and I just wasn’t expecting this. I’m 34 years old.
