Poster about an interesting case - de novo mutation of PALB2 gene

As part of the 26th annual National DNA Diagnostics conference, which took place 17-19. April in Brno, Dr. Anna Horská, in a team with other colleagues from GHC Genetics, presented a very interesting poster about a unique case report describing a case of a breast cancer patient who was examined for suspected hereditary cancer predisposition based on her personal history and was found to have a de novo probably pathogenic mutation in the PALB2 gene (evaluated as causal about the proband's breast cancer).

Until now, only one paper from 2020 describing a de novo pathogenic mutation of the PALB2 gene has been reported, specifically the c.3455 mutation del (p.Pro1152Hisfs*11) demonstrated in a patient with pancreatic cancer (Source: Rinat Bernstein Molho et al. Fam Cancer. 2020 Apr., De novo pathogenic germline variant in PALB2 in a patient with pancreatic cancer).

This is therefore a very rare case of a germline de novo mutation of the PALB2 gene.

Poster is available for download/watch in the appendix of this update.

* A de novo mutation is a phenomenon where we find a mutation in an offspring that neither of its parents carries. This mutation occurs de novo, for example in the germ cell of one parent or, more rarely, in the developing embryo. Certain genetic diseases - achondroplasia, for example - are relatively often the result of a new mutation.