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Table 4 Genetic testing criteria according to NCCN clinical practice guidelines in oncology v.4.2013 [14] for LFS

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

Criteria

Description

Familial TP53 mutation

Individual from a family with a known TP53 mutation

Early-onset breast cancer

Personal history of breast cancer ≤ 35 years of age with a negative BRCA1/2 test

Classic LFS criteria

Personal history of sarcoma < 45 years + 1 first-degree relative with cancer diagnosed at age <45 years + 1 first- or second-degree relative in the same lineage with cancer diagnosed at age < 45 years or sarcoma at any age

Chompret criteria

Personal history of a tumor of the LFS spectrum (eg. soft tissue sarcoma, osteosarcoma, brain tumor, breast cancer, adrenocortical carcinoma, leukemia, lung bronchoalveolar cancer) before 46 years of age + at least one first- or second-degree relative with any of the aforementioned cancers (other than breast cancer if the proband has breast cancer) before the age of 56 years or with multiple primaries at any age

Personal history of multiple tumors (except multiple breast tumors), two of which belong to the LFS tumor spectrum, with the initial cancer occurring before the age of 46 years

 

Personal history of adrenocortical carcinoma or choroid plexus carcinoma at any age of onset, regardless of family history

  1. LFS, Li-Fraumeni Syndrome.