De novo pathogenic germline variant in PALB2 in a patient with pancreatic cancer

AbstractDe novo mutations in the major breast/ovarian cancer susceptibility genesBRCA1 andBRCA2 are rare.De novo mutations in thePALB2 gene have never been reported. Here we report ade novo PALB2 germ line mutation (c.3455delC (p.Pro1152Hisfs*11) in a patient with pancreatic cancer, where non-paternity and somatic parental mosaicism have to the extent possible been excluded as a mechanism for detecting thede novo mutation. The lack of previous reports onde novo PALB2 mutations maybe the limited number ofPALB2germline mutations reported overall.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research