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.
This was extremely interesting. I found out yesterday that I have Lynch Syndrome-MSH2 deletion (exon 6). I have had numerous colonoscopies with precancerous polyps found & removed during the last 2 colonoscopies. Currently my brother has pancreatic cancer & my mother & her father both died from colon cancer.
Thank you so much for watching and I’m happy you found it interesting! I’m so sorry to hear that your family has dealt with / is dealing with some horrible cancer diagnoses. I hope you’ve found a great team to help you manage the cancers risks associated with Lynch syndrome. Wishing you all the best. ❤️
My brother developed colon cancer when he was 15. I’m glad they’re finally acknowledging this because they said he was too young to have colon cancer so he wasn’t diagnosed until he was in his 20s. He died, of course.
I'm so sorry about your brother. That is truly heartbreaking :( Genetic evaluation could be very valuable for your family. Besides Lynch syndrome, there are many other genetic conditions that are associated with colon cancer risk.
Thank you for this video, it was very informative! For me the most interesting part was definitely the insurance discrimination. I'm an Austrian medical student and our health system in Europe is way different than in the US, so I've never heard about that.
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 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 wish you had talked about Muir-torre Syndrome which is a sub variant of Lynch Syndrome especially MSH2. I appreciate your video and I did wonder about the insurance part as I do have Lynch MSH2 and my first malignant neoplasm of scalp. I'm enrolled in management at Mayo Clinic. Just so people understand you need a specialized dermatologist for Muir-torre syndrome. Thank you!!!
Good call! Thank you for catching that! You’re right - some families have Muir-Torre syndrome which means that in addition to all of the cancers I discussed in this video, they also have an increased risk of having sebaceous skin tumors which can be benign but can also sometimes be cancerous. They should be followed by a dermatologist who is familiar with these types of tumors.
I've been enjoying checking out your channel. Thank you for the quality informative content. I have always wanted to have my full genome sequenced, just because we can now for around $1000, and because it would be motivating to know which lifestyle and screening measures to be sure to take. As a genetic counselor, what do you think about full genome sequencing? Would/have you had yours done?
Thank you so much for watching Mallory! That is a great question and it’s probably best answered with a dedicated video! I have not had whole genome sequencing myself but I did get tested though a large panel of genes related to hereditary cancer. I might make a video about that too. Stay tuned!
Doctor Rachel Silva My mother at 75 years old, had colorectal cancer in the right ascending colon, which turned into lung metastasis, after a few months she had endometrial cancer. There are people in the family with cancer of the lung, throat, prostate, esophagus... Your sister remove polyps adenoma before age 40 My mother's treatment failed in 1st and 2nd line Possibly have HNPCC? micro satellite instability (MSI)? Exams are ready in a month to find out.
Hi Rodrigo! Thanks for the question! The combination of colorectal cancer and endometrial cancer in the same individual, especially in association with the family history you mentioned, is suggestive of Lynch syndrome. The only way to know for sure it with genetic testing with a blood or saliva sample. PS - just wanted to clarify that I’m not a doctor. I’m a genetic counselor.
Can you do a video on MEN syndromes , please i was just diagnosed with men1 i have stage 4 net cancer and would love to be able to share a video about it with friends and family .
I’m so sorry to hear about your cancer diagnosis. I will try to make a video about MEN1. It’s a complicated syndrome so I’m sure it’s not easy to explain to friends and family.
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.
Hi Rachel. Do you think Lynch Syndrome (more specifically PMS2) may also increase risk for breast cancer? I read a study on the internet that states so...
Hi Rafael, thanks for the question! There has indeed been some suggestion that people with Lynch syndrome, and especially PMS2 mutation carriers, may be at increased risk for breast cancer. But there is still insufficient evidence to make any changes to breast cancer screening recommendations. Stay tuned… we’ll probably learn more about this in the next few years.
I was diagnosed today with PMS2 Lynch Syndrome. I had breast cancer and my oncologist said it was due to this condition. So I’m curious to learn more. My dad had colon cancer and prostate cancers and my mom had pancreatic cancer so I don’t which one I got it from. Now I will wait anxiously as my kids get tested.
Hi Dawn, thanks for watching. The connection between PMS2 and breast cancer is still being figured out. We'll learn a lot more in the coming years! It would definitely be good to confirm which side of the family the mutation is coming from by testing relatives on both sides since the family history can impact screening recommendations (for example, if the mutation was maternally inherited, then you would qualify for pancreas cancer screening).
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.
Sorry to hear that! That is a lot, I can imagine it’s stressful. It’s important for your child to have genetic testing for juvenile polyposis syndrome (JPS) to make sure she has the most appropriate follow-up.
Inheriting two MSH3 mutations (one from each parent) increases the risk of colonic polyposis. The cancer risks associated with having only a single MSH3 mutation are unclear.
any updates on the aspirin dose? My health providers information lynch syndrome guidlines was last updated in 2014, and they do not recognize any benefit from aspirin based of off data from almost a decade ago :-/ thanks for posting this video.
There is new data now, published as recently as 2020. Current NCCN guidelines recommend that all individuals with Lynch syndrome should consider daily aspirin to reduce colorectal cancer risk. This should be discussed with your healthcare provider, preferably someone who has experience with Lynch syndrome, to determine if this is right for you, discuss dosage, and discuss risks vs benefits.
