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De novo pathogenic germline variant in PALB2 in a patient with pancreatic cancer
Rinat Bernstein Molho1,2, Shelly Zalmanoviz3, Yael Laitman3
1Breast cancer unit, Institute of Oncology, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
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.
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