Li-Fraumeni Syndrome

Li-Fraumeni syndrome is a rare cancer syndrome which can be inherited and is associated with stomach malignancies

It is caused by the mutation of a gene known as TP53 and is associated with other malignancies.

These can include:

  • Brain Tumors
  • Sarcomas
  • Leukemia’s
  • Breast
  • Adrenal Cortical Tumors
  • Bowel

How Is It Inherited?

The condition is inherited in an autosomal dominant fashion.

This means that an abnormal gene is passed from either your mother or father to you.

If one of your parents has the disease, there is a 50% chance of you having the abnormal gene.

If you have one abnormal copy of the gene, you will have LFS unlike a recessive disease where you have to have 2 abnormal genes to express the disease.

Li-Fraumeni Syndrome And Stomach Cancer

There is approximately a 20% lifetime risk of developing gastric malignancies with this condition.

It is also associated with a younger group of people with an average age of developing a gastric tumor being between 36 and 43 years of age.

How Common Is The Condition?

There have been various estimates as to the number of families with this condition. An estimate is in the region of one in five thousand families.

How Is IT Diagnosed?

The condition is diagnosed from the family history and can be confirmed by a blood test looking for the TP53 gene mutation. Some also have mutations of the CHEK2 gene, both increase malignant risk. In fact the overall lifetime risk is around ninety percent.

There are a variety of scoring systems to make the diagnosis including the Chompret criteria.

A geneticist will be able to provide guidance in this situation.

What Cancer Surveillance is Required In LFS?

If you have the mutation, a surveillance program to pick up early gastric, bowel, breast and other tumors should be considered.

In adults it is generally considered important to have the following:

  • A monthly breast examination from age 18 years feeling for breast lumps
  • An annual breast MRI scan or mammography depending on local services to you from the age of 20 years onwards looking for breast cancer changes
  • 2 yearly colonoscopy from age 40 years, or younger if there are family members with colorectal malignancies who have had the disease earlier. This is looking for bowel polyps or pre-cursors to cancer
  • Yearly brain MRI
  • Gastroscopy surveillance - there are currently no agreed guidelines for this, but are discretionary depending on family history and your local hospitals guidelines

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