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In response to a previous article outlining the search for other genes causing Li–Fraumeni syndrome (LFS),1 we have some evidence to suggest that BRCA2 may in some circumstances cause a Li–Fraumeni-like (LFL) pattern. Extensive analysis of classical LFS families has shown 70–75% with complete gene sequencing have identifiable mutations.1–3 A lower, but nevertheless substantial, proportion (30–40%) of families fulfilling criteria for LFL syndrome (box 1)2 also carry TP53 mutations. A recent paper has also suggested that BRCA2 may cause a fraction of breast sarcoma families.4 We have re-investigated an extensive LFL family (family 80) in whom we previously excluded TP53 by sequencing of all exons and by linkage5 and identified an exon 14–16 deletion in BRCA2.
Li–Fraumeni syndrome (LFS) criteria
Proband with any bone or soft tissue sarcoma, diagnosed under the age of 45 years
one first degree relative with cancer under 45 years of age
and one first or second degree relative in the same lineage, with cancer under 45 or sarcoma diagnosed at any age.
Li–Fraumeni-like syndrome (LFL) criteria
Proband with any childhood cancer or sarcoma, …
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