Talk:Li–Fraumeni syndrome

Wiki Education Foundation-supported course assignment
This article is or was the subject of a Wiki Education Foundation-supported course assignment. Further details are available on the course page. Student editor(s): Arm7wb, Mmcfz5, Jwhd58, Sumidhak, Biermannjordan, Clw45f, Artxw9.

Above undated message substituted from Template:Dashboard.wikiedu.org assignment by PrimeBOT (talk) 02:46, 17 January 2022 (UTC)

PET scans
18FDG-PET may be a useful way of finding the cancers before they cause trouble: http://jama.ama-assn.org/cgi/content/abstract/299/11/1315?etoc JFW | T@lk  15:32, 18 March 2008 (UTC)

Symptoms
What are the symptoms?

The DarkArcher was here (talk) 04:48, 11 July 2008 (UTC)

Updating and Adding Information
Hello, I am a undergraduate student in Wisconsin and am working on a project for an English class. I have recently done a large project on Li-Fraumeni syndrome, and was looking to add some information to this article, and update existing information that is not 100% accurate. As of now, I am looking to add information to the pathology section. I am not really sure what the LFS1 and LFS2 is about so I might change that(possible use the gene affected as the heading instead). I was also looking to add some information about LFS-like individuals, who do not have any detectable mutations, but display the LFS phenotype. Also I would possibly like to add some theorized reasons (CNVS, etc.) for the variations in phenotypes (different cancer types, age of onset, etc.). I am very new to Wikipedia editing so any help and or ideas about would to write about would be greatly appreciated.

Mscott11 (talk) 21:08, 9 December 2014 (UTC)

Does all relevant information have the proper citations included?LyndzieB (talk) 19:51, 3 November 2016 (UTC)


 * It should now. Germlinep53 (talk) 15:40, 19 July 2024 (UTC)

Diagnosis
There is very little information on the diagnosis of this disease. Specifically, how can predisposition factors be diagnosed before the cancer is diagnosed?Mmh3k5 (talk) 02:49, 8 November 2016 (UTC)


 * Genetic testing based on family history of cancers. These days, panel testing is more prevalent than in the early years of genetic testing for a specific gene mutation.  For instance, if breast cancer ran in a family, BRCA would be the usual suspect and testing may have been specific to that gene.  Panel testing would include other mutations such as the TP53 and folks would be diagnosed with the variant. With that, screening for early detection of cancer development would be recommended or folks could opt for prophylactic procedures to help minimize their cancer risks, such as bilateral mastectomies.    Germlinep53 (talk) 20:31, 19 July 2024 (UTC)

Are there multiple types of mutations that causes the disease, and how do they affect the protein in relation to phenotype? Clw45f (talk) 23:55, 9 November 2016 (UTC)

Is there currently genetic testing available for this disease? If so how accessible is the testing? Clw45f (talk) 23:57, 9 November 2016 (UTC)


 * Yes!! Since the discovery in 1990 that LFS was caused by the germline (born with it in every cell) variation of the tumor suppressor gene, TP53, researchers were able to target that gene for testing.   Genetic testing is much more accessible these days and panel testing includes the detection of multiple (known) gene mutations.  Speak with a (cancer) genetic counselor to review family cancer histories.  If insurance doesn't cover the cost, may testing companies have financial aid or one can pay out of pocket (around $250 these days, or less). Germlinep53 (talk) 20:44, 19 July 2024 (UTC)

Treatment
Are there any valuable treatment options for individuals with this disease? Arm7wb (talk) 19:56, 3 November 2016 (UTC)


 * Unfortunately, no. Early detection is the best bet for catching cancers in development for the best treatment options. Germlinep53 (talk) 15:42, 19 July 2024 (UTC)

Are there any gene therapy trials that have been done? — Preceding unsigned comment added by Artxw9 (talk • contribs) 15:33, 7 November 2016 (UTC)


 * Not at this time, but metformin is being studied in England to see if it can slow down cancer development. Germlinep53 (talk) 20:32, 19 July 2024 (UTC)

Characteristics
What are some other major characteristics of Li-Fraumeni syndrome and are there any major phenotypes associated with this disease? Arm7wb (talk) 21:26, 3 November 2016 (UTC)


 * See the updated page for prevalent cancer types.  Germlinep53 (talk) 20:33, 19 July 2024 (UTC)

What is the genotype-phenotype correlation for LFS if any? Mes455 (talk) 01:46, 7 November 2016 (UTC)mes455

What are the molecular mechanisms for malignancy as a result of LFS genetic mutations? Mes455 (talk) 01:46, 7 November 2016 (UTC)mes455

Symptoms
What are the symptoms associated specifically with this disease?LyndzieB (talk) 19:58, 3 November 2016 (UTC)


 * Individual and familial history of cancers. Germlinep53 (talk) 15:43, 19 July 2024 (UTC)

Epidemiology
This section needs a lot of work, seems to be all over the place. I also think that we should clarify what an epidemiological approach is — Preceding unsigned comment added by Artxw9 (talk • contribs) 15:30, 7 November 2016 (UTC)

What is the prevalence of the disease? It's a little confusing how the article says it's rare and then follows that up with more than 500 families have the trait.

Pathology
What are the Birch and Eeles criteria? — Preceding unsigned comment added by Artxw9 (talk • contribs) 15:34, 7 November 2016 (UTC)


 * Reference is made to the updated article. Germlinep53 (talk) 20:34, 19 July 2024 (UTC)

Review
10.1111/bjh.14461 JFW &#124; T@lk  16:08, 22 February 2017 (UTC)

Li-Fraumeni
My wife died from cancer. She had breast cancer but ultimately had a soft tissue sarcoma. She was diagnosed with Li-Fraumeni syndrome. She participated with professor David Johnson at Vanderbilt University Medical School by being interviewed on stage in front of the medical students. My hope is Dr Jennifer Doudna at Cal Berkley will continue her CRISPR research and find a cure for the p53 genetic mutation. Thanks to her there’s hope for my children, one that has recently been diagnosed with breast cancer and tested positive for the p53 mutation. 152.86.90.145 (talk) 19:39, 17 November 2021 (UTC)


 * So sorry for your loss. Was your wife treated with radiation as part of her treatment plan?  It is good that your daughter has been tested - that may very well have affected her treatment plan.   Germlinep53 (talk) 20:37, 19 July 2024 (UTC)

Additional Resources
Assistance is requested: With the wonderful help of the Wiki educators and LFS specialists at the National Cancer Institute's Division of Cancer Epidemiology and Genetics, I have been able to update this page with clarifications to most all of the headings. However, due to potential conflicts of interest, I need to request assistance from another editor to add the Li-Fraumeni Syndrome Association (LFS Association / LFSA) as a reputable source that promotes LFS research and supports LFS families, as well as connecting families with the best providers known, world-wide. The LFSA is comprised of an all-volunteer board, with medical and scientific boards comprised of the top international LFS researchers, along with a genetic counseling group of very active LFS/cancer genetic providers who contribute greatly. The LFSA holds the top international scientific symposiums on LFS wherein families are also involved every two years and we offer an international Youth Program with fun and educational workshops every other year. I volunteer for the LFSA, so if someone else could add our website to this page, it could help many cancer-prone families connect with each other and the best resources for care. Thank you. www.LFSAssociation.org Germlinep53 (talk) 16:01, 19 July 2024 (UTC)


 * Done. Jaredroach (talk) 14:39, 20 July 2024 (UTC)