BHD Literature Database Updated

The literature database has been updated with one paper:

Pradella et al. analysed parotid and thyroid tumours resected from a Birt-Hogg-Dubé and Cowden Syndrome patient respectively. They found that the parotid tumour carries a somatic PTEN deletion in addition to a germline FLCN mutation, while the thyroid tumour carries a somatic FLCN deletion in addition to a germline PTEN deletion. Both tumours were oncocytic and displayed characteristic mitochondrial hyperplasia. No mutations in mitochondrial genes, which cause sporadic oncocytic tumours, were found and array CGH showed that there was no chromosomal instability in these tumours. Thus, the authors conclude that compound heterozygosity of FLCN and PTEN causes oncocytic tumorgenesis specifically in the context of the cancer predisposition syndromes Birt-Hogg-Dubé and Cowden Syndrome.

To find out more, download the latest version of the database here.

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