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.

中文翻译：

---

胰腺癌患者PALB2中的从头致病种系变异。

主要乳腺癌/卵巢癌易感基因BRCA1和BRCA2的从头突变很少见。从未报道过PALB2基因的从头突变。在这里，我们报告了胰腺癌患者的新生PALB2生殖细胞系突变（c.3455delC（p.Pro1152Hisfs * 11），其中非亲子鉴定和体细胞亲本镶嵌术已被排除在外，作为检测de的机制新生突变。由于缺乏对以前的报告从头PALB2突变可能数量有限PALB2胚系突变的整体报道。