ArticleHereditary cancer in clinical practice2021
Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report.
Article in Hereditary cancer in clinical practice, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.Cancers · 2023Review
- Review
- Genomic analysis of familial pancreatic cancers and intraductal papillary mucinous neoplasms: A cross-sectional study.Cancer science · 2022Article
- Homologous Recombination Deficiencies and Hereditary Tumors.International journal of molecular sciences · 2021Review
- Hereditary pancreatic cancer.International journal of clinical oncology · 2021Review
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Authors and funding
10 authors at 2 institutions in 1 country.
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Abstract
backgroundFamily 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.
conclusionsFurther studies are required to develop strategies for managing FPCs to facilitate prompt diagnosis before their progression.
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