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- Publisher
- Springer Journals
- Copyright
- Copyright © Springer Nature B.V. 2019
- Subject
- Biomedicine; Cancer Research; Human Genetics; Epidemiology; Biomedicine, general
- ISSN
- 1389-9600
- eISSN
- 1573-7292
- DOI
- 10.1007/s10689-019-00157-1
- Publisher site
- See Article on Publisher Site
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.
Journal
Familial Cancer – Springer Journals
Published: Apr 19, 2020