Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report

Author:

Abe Kodai,Ueki Arisa,Urakawa Yusaku,Kitago Minoru,Yoshihama Tomoko,Nanki Yoshiko,Kitagawa Yuko,Aoki Daisuke,Kosaki Kenjiro,Hirasawa AkiraORCID

Abstract

Abstract Background Family history is one of the risk factors for pancreatic cancer. It is suggested that patients with pancreatic cancer who have a familial history harbor germline pathogenic variants of BRCA1 and/or BRCA2 (BRCA1/2), PALB2, or ATM. Recently, some germline variants of familial pancreatic cancers (FPCs), including PALB2, have been detected. Several countries, including Japan, perform screening workups and genetic analysis for pancreatic cancers. We have been carrying out active surveillance for FPC through epidemiological surveys, imaging analyses, and genetic analysis. Case presentation Here, we present the case of a female patient harboring pathogenic variants of PALB2 and NBN, with a family history of multiple pancreatic cancer in her younger brother, her aunt, and her father. Moreover, her father harbored a PALB2 pathogenic variant and her daughter harbored the same NBN pathogenic variant. Given the PALB2 and NBN variants, we designed surveillance strategies for the pancreas, breast, and ovary. Conclusions Further studies are required to develop strategies for managing FPCs to facilitate prompt diagnosis before their progression.

Funder

Japan Society for the Promotion of Science

Ministry of Health, Labour and Welfare

Foundation for Promotion of Cancer, Research in Japan

Daiwa Securities Health Foundation

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Oncology

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