Viva la Vivi has been asked to get involved and spread the word, as a research study may begin if more participants with a rare genetic disorder can be found.
I have been asked by a family (from The Acreage) who have two children with Adrenocortical Carcinoma as well as Li-Fraumeni syndrome which is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.
What genes are related to Li-Fraumeni syndrome?
The CHEK2 and TP53 genes are associated with Li-Fraumeni syndrome.
More than half of all families with Li-Fraumeni syndrome have inherited mutations in the TP53 gene. TP53 is a tumor suppressor gene, which means that it normally helps control the growth and division of cells. Mutations in this gene can allow cells to divide in an uncontrolled way and form tumors. Other genetic and environmental factors are also likely to affect the risk of cancer in people with TP53 mutations.
A few families with cancers characteristic of Li-Fraumeni syndrome and Li-Fraumeni-like syndrome do not have TP53 mutations, but have mutations in the CHEK2 gene. Like the TP53 gene, CHEK2 is a tumor suppressor gene. Researchers are uncertain whether CHEK2 mutations actually cause these conditions or are merely associated with an increased risk of certain cancers (including breast cancer).
Read More about Li-Fraumeni Syndrome (TP53 mutation)
This family along with St. Jude Children's Research Hospital would like to know if there are any other children in The Acreage or surrounding areas with this specific condition. If we have one other child they will conduct their own independent study (do not know what that will entail).
Read more about Adrenocortical Carcinoma:
Thank You!
If you have a child battling Adrenocortical Carcinoma, and are interested in sharing your name or participating, please contact Viva la Vivi or
The Acreage Cancer Study.
Thank you!
If you have a child battling Adrenocortical Carcinoma, and are interested in sharing your name or participating, please contact Viva la Vivi or The Acreage Cancer Study.
Thank you!