Description

Chompret et al proposed criteria for identifying a patient with the Li-Fraumeni Syndrome (LFS).


 

A patient has the LFS if one or more of the following criteria are met:

(1) proband with adrenocortical carcinoma, brain tumor, breast cancer or sarcoma diagnosed before 36 years of age AND one of the following:

(1a) one or more first or second degree relatives or first cousins with cancer (not breast if proband has breast cancer) diagnosed before 46 years of age

(1b) relative with multiple primaries at any age

(2) proband with multiple primary tumors with both of the following:

(2a) 2 of which are adrenocortical carcinoma, brain tumor, breast cancer or sarcoma

(2b) first tumor diagnosed before 36 years of age

(3) proband with adenocortical carcinoma at any age AND a family history

 

where:

• The first criteria is listed in the abstract for Br J Cancer article and the second on page 1933.

• All 3 criteria are given on page 46 of the J Med Genet paper.

• The "family history" in item 3 could represent a family history of adrenocortical carcinoma or the combination of 1a and 1b.

• Chompret et al are very concerned about introducing selection bias into the criteria.

 


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