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

Rinat Bernstein Molho, Shelly Zalmanoviz, Yael Laitman, Eitan Friedman

Research output: Contribution to journalArticlepeer-review

Abstract

De novo mutations in the major breast/ovarian cancer susceptibility genes BRCA1 and BRCA2 are rare. De novo mutations in the PALB2 gene have never been reported. Here we report a de 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 the de novo mutation. The lack of previous reports on de novo PALB2 mutations maybe the limited number of PALB2germline mutations reported overall.

Original languageEnglish
Pages (from-to)193-196
Number of pages4
JournalFamilial Cancer
Volume19
Issue number2
DOIs
StatePublished - 1 Apr 2020

Keywords

  • Inherited predisposition to cancer
  • Mosaicism
  • PALB2 gene
  • de novo mutation

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