p53 mutation – Li-Fraumeni Syndrome – Likelihood of Genetic or Hereditary conditions playing a role in Intergenerational incidence of Cancer
Reporter: Aviva Lev-Ari, PhD, RN
THIS ARTICLE IS RECOMMENDED READING TO ALL OUR e-Readers
because it is a REAL story of a high school student fighting Brain Cancer, glioblastoma multiforme (GBM)
it presents the FRONTIER OF GENOMICS, PRECISION MEDICINE, Interventional Radiology and Interventional ONCOLOGY at
Stanford University, Canary Center at Stanford for Early Cancer Detection, Stanford Medical Center and Lucile Packard Children’s Hospital
I was exposed to Li-Fraumeni Syndrome in the following article:
‘And yet, you try’ – A father’s quest to save his son
Other Names for This Condition
- Sarcoma family syndrome of Li and Fraumeni
- Sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome
- SBLA syndrome
LFS is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.
The cancers most often associated with Li-Fraumeni syndrome include breast cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as muscle) called
(small hormone-producing glands on top of each kidney). Several other types of cancer also occur more frequently in people with Li-Fraumeni syndrome.
A very similar condition called Li-Fraumeni-like syndrome shares many of the features of classic Li-Fraumeni syndrome. Both conditions significantly increase the chances of developing multiple cancers beginning in childhood; however, the pattern of specific cancers seen in affected family members is different.
More than half of all families with Li-Fraumeni syndrome have inherited mutations in the 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).
Li-Fraumeni syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing cancer. In most cases, an affected person has a parent and other family members with cancers characteristic of the condition.
Diagnosis and Management
These resources address the diagnosis or management of Li-Fraumeni syndrome:
References on LFS