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Table 1 Current genetic testing criteria for LFS

From: TP53 p.R337H prevalence in a series of Brazilian hereditary breast cancer families

Classification

Description

Classic (Li et al., 1988) [25]

Proband diagnosed with sarcoma before age 45, and a FDR with cancer before age 45, and another first- or second-degree relative with any cancer diagnosed under age 45 or with sarcoma at any age

Birch (Birch et al.,1994) [11]

Proband with any childhood cancer or sarcoma, brain tumor, or adrenocortical carcinoma diagnosed under 45 years, and a FDR or SDR with a typical Li-Fraumeni syndome-related cancer (sarcoma, breast cancer, brain tumor, leukemia, or adrenocortical carcinoma) diagnosed at any age and an FDR or SDR in the same genetic lineage with any cancer diagnosed under the age of 60

Eeles (Eeles, 1995) [12]

Two different tumors that are part of the extended Li-Fraumeni syndome in FDR or SDR at any age (sarcoma, breast cancer, brain tumor, leukemia, adrenocortical tumor, melanoma, prostate cancer, and pancreatic cancer)

Revised Chompret (Tinat et al., 2009) [26]

I—Proband diagnosed with tumor belonging to Li-Fraumeni syndome spectrum (soft tissue sarcoma, osteosarcoma, brain tumor, premenopausal breast cancer, adrenocortical carcinoma, leukemia, lung bronchoalveolar cancer) before age 46 and at least one first- or second degree relative with Li-Fraumeni syndrome cancer (except breast cancer if the proband has breast cancer) under the age of 56 years or with multiple tumors at any age

II—Proband with multiple primary tumors (except multiple breast), two of which belong to Li-Fraumeni syndome tumor spectrum and the first of which occurred before age 46

 

III—Proband with adrenocortical carcinoma or choroid plexus tumor at any age, irrespective of family history

  1. FDR, First-degree relative; SDR, Second-degree relative.