Introduction: Pancreas adenocarcinoma (PC) has an undefined hereditary component. We quantified the familial risk of PC among relatives of patients diagnosed with PC and stratified it based on anatomic location of PC and age and sex of the proband.
Methods: This is a retrospective, population-based, case-control study of PC diagnosed in Utah between 1980 and 2011. The Utah population database and cancer registry were used to identify index patients with PC. The risk of PC in first-degree relatives (FDRs), second-degree relatives (SDRs), and first cousins (FCs) of probands was compared with randomly selected sex- and age-matched population controls.
Results: A total of 4,095 patients and 40,933 controls were identified. The relative risk (RR) of PC was 1.76 (95% CI 1.35-2.29) in FDRs, 1.42 (95% CI 1.18-1.7) in SDRs and 1.08 (95% CI 0.95-1.23) in FCs of probands compared to relatives of PC-free controls. The RR were elevated in FDRs (1.96, 95% CI 1.45-2.65), SDRs (1.54, 95% CI 1.19-1.98) and FCs (1.18, 95% CI 1.0-1.64) of female probands. Among probands diagnosed as < 65 years, RR was 2.12 (95% CI 1.37-3.28) in FDRs, 1.94 (95% CI 1.44-2.62) in SDRs, and 1.28 (95% CI 1.0-1.64) in FCs. Overall, the RR for PC was elevated in FDRs regardless of the anatomic location of PC.
Discussion: There is an increased risk of PC in FDR and more distant relatives of patients with PC. Relatives of female patients with PC and patients diagnosed at age < 65 years are at a significantly increased risk of PC.
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http://dx.doi.org/10.1007/s00535-019-01597-3 | DOI Listing |
Clin Chim Acta
December 2022
Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Department of Clinical Laboratory, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, Guangxi, China. Electronic address:
Familial chylomicronemia syndrome (FCS) caused by mutations of lipoprotein lipase (LPL) gene and other triglyceride-rich lipoprotein genes related with catabolism is an autosomal recessive rare disease. Herein, we report an infant with FCS and review the relevant literature. The proband is a male infant with FCS for which the whole-exome sequencing (WES), sanger sequencing and copy number variation (CNV) based on WES were performed.
View Article and Find Full Text PDFClin Chim Acta
October 2021
Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children's Major Disease Research, Yunnan Medical Center for Pediatric Diseases, Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming 650228, Yunnan, China. Electronic address:
The aim of this study was to investigate the clinical features and genetic causes of two family cases with familial chylomicronemia syndrome (FCS). Clinical manifestations of proband 1 and her families, and also proband 2 showed severe hypertriglyceridemia, especially the triglycerides levels of two probands were extremely high. Gene sequencing results showed that the LPL genes in each of the two probands had a new mutation site.
View Article and Find Full Text PDFJ Gastroenterol
December 2019
Division of Gastroenterology and Hepatology, Mayo Clinic, 13400 E Shea Blvd, Scottsdale, AZ, 85259, USA.
Introduction: Pancreas adenocarcinoma (PC) has an undefined hereditary component. We quantified the familial risk of PC among relatives of patients diagnosed with PC and stratified it based on anatomic location of PC and age and sex of the proband.
Methods: This is a retrospective, population-based, case-control study of PC diagnosed in Utah between 1980 and 2011.
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