Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report
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 pancr...
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doaj-3527fc82f14448a2a92a75abcc4535d02021-01-10T12:53:17ZengBMCHereditary Cancer in Clinical Practice1897-42872021-01-011911510.1186/s13053-020-00160-zFamilial pancreatic cancer with PALB2 and NBN pathogenic variants: a case reportKodai Abe0Arisa Ueki1Yusaku Urakawa2Minoru Kitago3Tomoko Yoshihama4Yoshiko Nanki5Yuko Kitagawa6Daisuke Aoki7Kenjiro Kosaki8Akira Hirasawa9Department of Surgery, Keio University School of MedicineCenter for Medical Genetics, Keio University School of MedicineDepartment of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama UniversityDepartment of Surgery, Keio University School of MedicineDepartment of Obstetrics and Gynecology, Keio University School of MedicineDepartment of Obstetrics and Gynecology, Keio University School of MedicineDepartment of Surgery, Keio University School of MedicineDepartment of Obstetrics and Gynecology, Keio University School of MedicineCenter for Medical Genetics, Keio University School of MedicineCenter for Medical Genetics, Keio University School of MedicineAbstract 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.https://doi.org/10.1186/s13053-020-00160-zHereditary pancreatic cancerPALB2NBN |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Kodai Abe Arisa Ueki Yusaku Urakawa Minoru Kitago Tomoko Yoshihama Yoshiko Nanki Yuko Kitagawa Daisuke Aoki Kenjiro Kosaki Akira Hirasawa |
spellingShingle |
Kodai Abe Arisa Ueki Yusaku Urakawa Minoru Kitago Tomoko Yoshihama Yoshiko Nanki Yuko Kitagawa Daisuke Aoki Kenjiro Kosaki Akira Hirasawa Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report Hereditary Cancer in Clinical Practice Hereditary pancreatic cancer PALB2 NBN |
author_facet |
Kodai Abe Arisa Ueki Yusaku Urakawa Minoru Kitago Tomoko Yoshihama Yoshiko Nanki Yuko Kitagawa Daisuke Aoki Kenjiro Kosaki Akira Hirasawa |
author_sort |
Kodai Abe |
title |
Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report |
title_short |
Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report |
title_full |
Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report |
title_fullStr |
Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report |
title_full_unstemmed |
Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report |
title_sort |
familial pancreatic cancer with palb2 and nbn pathogenic variants: a case report |
publisher |
BMC |
series |
Hereditary Cancer in Clinical Practice |
issn |
1897-4287 |
publishDate |
2021-01-01 |
description |
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. |
topic |
Hereditary pancreatic cancer PALB2 NBN |
url |
https://doi.org/10.1186/s13053-020-00160-z |
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