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

被引：0
作者：
Rinat Bernstein Molho
Shelly Zalmanoviz
Yael Laitman
Eitan Friedman
机构：
[1] Chaim Sheba Medical Center,Breast cancer unit, Institute of Oncology
[2] Chaim Sheba Medical Center,The Susanne Levy Gertner Oncogenetics Unit
[3] Tel-Aviv University,Sackler School of Medicine
[4] Chaim Sheba Medical Center,Oncogenetics Unit, Institute of Human Genetics
来源：
Familial Cancer | 2020年 / 19卷
关键词：
mutation; gene; Inherited predisposition to cancer; Mosaicism;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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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页码：193 / 196
页数：3
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