Grey's Anatomy Reaction: Li-Fraumeni Syndrome
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- เผยแพร่เมื่อ 10 ก.พ. 2025
- In Grey's Anatomy S10E14 a 16-year-old girl is diagnosed with 3 tumors. She also has a significant family history of cancer. She is diagnosed with Li-Fraumeni syndrome which is caused by an inherited mutation in the gene TP53. Li-Fraumeni syndrome is associated with a high risk of sarcoma, breast cancer, brain cancer, leukemia, and adrenocortical carcinoma.
If you want to learn more about Li-Fraumeni syndrome check out the LFS Association which is an excellent resource for information, advocacy, and support: www.lfsassocia...
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Just seeing how impacted you are by a fictional TV show makes me want you as my Genetic Counselor because I know you'd be invested in my care and what happens to me overall.
Thank you! This comment makes my heart happy! I do care a lot about my patients
@@CancerGC I'm both an EMS provider and an RN and I think that being invested in our patients is so important because it helps outcomes. Of course we have to have some point of separation but investment in patients is so key
My daughter(age22) has just been diagnosed with (TP53 variant) Li Fraumeni Syndrome as well as BRCA II variant...thank you for your thorough informative analysis of this episode covering this condition.
My grandson died at age four and his Mom/ my daughter in law at age 31 last month. Li Fraumeni . My poor son has just my granddaughter left. At age 30 he lost more than half his family.
this video was very informative! I am a medical student in the US! I hope you keep making videos because it really helps to contextualize the information I learn in class! thank you so much!
Thank you so much for your comment! I’m so glad you found the video helpful! I do hope to make more videos in the future!
I received my genetic results today and I have the tp53 variant, thank you for the information and the compassion!
Me too...many family members
Thank you for this ❤️❤️ genetics are really interesting
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.
I thought at first that Rachel Silva-Smith was the actor who played the patient in this episode of “Grey’s Anatomy.” They look so alike!
Great video and very informative. Still, quite an unfortunate disease.
Karlo H Thank you for watching! Yes, it is really one of the worst hereditary cancer syndromes...
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. 🙏🏼
My family too
Oooh can you do the Ehlers Danlos Syndrome episode? It's season 13 episode 4
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’m so so sorry about your incredible loss. Glad to hear that you are being very closely monitored ❤️
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
Thanks for the video! You're very cute and genetics is very interesting. ✨😘
Aww thank you so much for watching! 😊
My 8 year old granddaughter was diagnosed with epilepsy when she was 5. She recently underwent genetic testing and does have a genetic defect for epilepsy but an incidental finding is that she also has TP53 syndrome. It turns out that my 39 yr old daughter has TP53 syndrome. I am 67 years old and I was diagnosed with DCIS L breast when I was 59 yrs old, 8 years ago. I underwent L partial mastectomy and R breast reduction and whole breast irradiation 5 days/wk x 7 weeks. I was told that I received the max amount of radiation I can receive in my lifetime. No genetic testing was done at diagnosis because There was no history of breast cancer in my family.
I contacted my Surgical Oncology NP and requested testing for TP53. She referred me for evaluation of genetic testing through a program at the University of Rochester. As I understand it, if I develop another cancer, I won’t be able to receive radiation. I wish now that my drs had done genetic testing because If I do have the TP53, I would have chosen to have a mastectomy alone. My daughter and granddaughter are waiting for an appt with a genetic dr. The only family history for cancer that I know of is my brother had prostate ca, died young 58 yo, Mat grandmother died 75 yo bladder ca, Ma grandfather died 65 yo lung ca. Your video was very informative and I thank you for posting it. I’m a BSN, RN, worked for many years in Pediatric Hematology-Oncology and I’ve never heard of this syndrome until now.
Thank you for sharing Margaret! This is a pretty rare syndrome and there is definitely a lack of awareness. All the best to you and your family!