Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report.
Hereditary pancreatic cancer
NBN
PALB2
Journal
Hereditary cancer in clinical practice
ISSN: 1731-2302
Titre abrégé: Hered Cancer Clin Pract
Pays: Poland
ID NLM: 101231179
Informations de publication
Date de publication:
07 Jan 2021
07 Jan 2021
Historique:
received:
07
05
2020
accepted:
17
12
2020
entrez:
8
1
2021
pubmed:
9
1
2021
medline:
9
1
2021
Statut:
epublish
Résumé
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. 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. Further studies are required to develop strategies for managing FPCs to facilitate prompt diagnosis before their progression.
Sections du résumé
BACKGROUND
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
METHODS
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
CONCLUSIONS
Further studies are required to develop strategies for managing FPCs to facilitate prompt diagnosis before their progression.
Identifiants
pubmed: 33413558
doi: 10.1186/s13053-020-00160-z
pii: 10.1186/s13053-020-00160-z
pmc: PMC7792085
doi:
Types de publication
Journal Article
Langues
eng
Pagination
5Subventions
Organisme : Japan Society for the Promotion of Science
ID : Bilateral program, and JSPS KAKENHI Grant Numbers: 17K19611.
Organisme : Ministry of Health, Labour and Welfare
ID : 20EA1027
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