Kodai Abe1, Arisa Ueki2, Yusaku Urakawa3, Minoru Kitago1, Tomoko Yoshihama4, Yoshiko Nanki4, Yuko Kitagawa1, Daisuke Aoki4, Kenjiro Kosaki2, Akira Hirasawa5,6,7. 1. Department of Surgery, Keio University School of Medicine, Tokyo, Japan. 2. Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan. 3. Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikata-cho, Kita-ku, Okayama, 700-8558, Japan. 4. Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan. 5. Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan. hir-aki45@umin.org. 6. Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikata-cho, Kita-ku, Okayama, 700-8558, Japan. hir-aki45@umin.org. 7. Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan. hir-aki45@umin.org.
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.
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.
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