ID | 61287 |
FullText URL | |
Author |
Abe, Kodai
Department of Surgery, Keio University School of Medicine
Ueki, Arisa
Center for Medical Genetics, Keio University School of Medicine
Urakawa, Yusaku
Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Kitago, Minoru
Department of Surgery, Keio University School of Medicine
Yoshihama, Tomoko
Department of Obstetrics and Gynecology, Keio University School of Medicine
Nanki, Yoshiko
Department of Obstetrics and Gynecology, Keio University School of Medicine
Kitagawa, Yuko
Department of Surgery, Keio University School of Medicine
Aoki, Daisuke
Department of Obstetrics and Gynecology, Keio University School of Medicine
Kosaki, Kenjiro
Center for Medical Genetics, Keio University School of Medicine
Hirasawa, Akira
Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Kaken ID
researchmap
|
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.
|
Keywords | Hereditary pancreatic cancer
PALB2
NBN
|
Published Date | 2021-01-07
|
Publication Title |
Hereditary Cancer in Clinical Practice
|
Volume | volume19
|
Publisher | BMC
|
Start Page | 5
|
ISSN | 1897-4287
|
Content Type |
Journal Article
|
language |
English
|
OAI-PMH Set |
岡山大学
|
Copyright Holders | © Authors.
|
File Version | publisher
|
PubMed ID | |
DOI | |
Related Url | isVersionOf https://doi.org/10.1186/s13053-020-00160-z
|
License | http://creativecommons.org/licenses/by/4.0/
|