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Is CHEK2 a moderate-risk breast cancer gene or the younger sister of Li-Fraumeni?
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  • Published on:
    We're All Not the Same, But We're Still Family
    • Renata Lazari Sandoval, Clinical geneticist Hospital Sírio-Libanês
    • Other Contributors:
      • Maria Isabel Achatz, Clinical geneticist

    Dear Editor:
    We read with great interest the case report published by De Silva and Winship1 in the September 2020 issue of this journal. They reported the medical history of a 52-year-old male patient who fulfilled the revised Chompret clinical criteria for Li-Fraumeni syndrome (LFS) and carried a germline CHEK2 mutation (NM_007194.4:c.1100del, p.Thr367fs). The authors highlighted the possible link between CHEK2 germline mutations and a Li-Fraumeni like syndrome phenotype.
    The term Li-Fraumeni like syndrome (LFL) was introduced by Birch et al. in 1994 to describe LFS families who did not fulfill the classical LFS criteria, but carried a TP53 germline mutation.2,3 Nevertheless, germline mutations in TP53 gene may not detected in some families with clinical diagnosis of the syndrome. In 1999, Bells et al. reported a family who fulfilled classical LFS criteria and carried a CHEK2 pathogenic mutation, c.1100delC.4 At that time, the authors hypothesized for the first time that heterozygous CHEK2 mutations could be related to LFS phenotype. BRCA2 germline mutations were also described in TP53-negative LFS families.5
    Most cancer predisposition syndromes have an autosomal dominant pattern of inheritance with incomplete penetrance and variable clinical expressivity. Genetic and environmental modifiers play a role in intra and interfamilial heterogeneity.8 Environmental modifiers were not mentioned by De Silva and Winship, and should have been described in the c...

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    Conflict of Interest:
    None declared.