Clinico-Genomic Profiling of Families with Li Fraumeni Syndrome in North India
A retrospective study
Li Fraumeni syndrome is an intriguing condition for a third year medical student and a nightmare of affected families. It occurs due to mutation in the TP53 gene. Families affected by this inherited cancer predisposition syndrome can benefit by initiating surveillance of asymptomatic carriers in a timely manner. Indigenous data on families affected by this condition is invaluable in providing socio-economic support to them, but has been sparse.
Read this open access article on Li Fraumeni syndrome by Dr Ghazal Tansir et al., retrospectively analyzing data from 9 affected families in India.
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