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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Given its clinical nature and implications of the genotyping, the need to obtain a specific IRB approval, in addition to the clinically based approval for performing genetic testing, was waived by the Sheba IRB.
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Bernstein Molho, R., Zalmanoviz, S., Laitman, Y. et al. De novo pathogenic germline variant in PALB2 in a patient with pancreatic cancer. Familial Cancer 19, 193–196 (2020). https://doi.org/10.1007/s10689-019-00157-1
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DOI: https://doi.org/10.1007/s10689-019-00157-1