Associated Papers
Risk-stratified surveillance for individuals in the UK at high risk of developing pancreatic cancer: Outcomes from the European Registry of Hereditary Pancreatic Diseases (EUROPAC).
Hopley PJ et al.
European Journal of Cancer (oxford, England : 1990), 2026
Pathologically relevant trypsinogen activation in pancreatitis.
Geisz-Fremy A
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2026
Gene, genetics and genetic medicines in gastroenterology: Current status and its future.
Kumar A et al.
World Journal of Gastroenterology, 2026
Hereditary pancreatitis with a N29I mutation in the PRSS1 (Trypsinogen) gene: A case report from India.
Rodrigues M et al.
Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2025
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
TRPV6-related pancreatitis: natural history and the impact of the pancreas-specific deletion on pancreatitis in mice.
Masamune A et al.
Journal of Gastroenterology, 2025
Whole-exome sequencing of kidney transplant recipients and donors: insights into end-stage renal disease and post-transplant genetic risk.
Bayanova M et al.
Bmc Nephrology, 2025
A Case of Pancreatic Ductal Adenocarcinoma in PRSS1-Associated Hereditary Pancreatitis in the Absence of High-Grade PanIN: Suggestive of Chromothripsis-Like Tumor Evolution.
Norose T et al.
Pathology International, 2025
[194 + 2T>C;-215G>A] mutation of SPINK1 gene is associated with fibrocalculous pancreatic diabetes: A rare case report.
Li Y et al.
Medicine, 2025
SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challenges.
Wang YC et al.
American Journal of Human Genetics, 2025
PRSS1, SPINK1 Mutations and Associated Factors in Vietnamese Patients With Chronic Pancreatitis.
Vo TTL et al.
Jgh Open : an Open Access Journal of Gastroenterology and Hepatology, 2025
Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.
Alnaqbi H et al.
Scientific Reports, 2025
Frequency of de novo PRSS1 pathogenic variants in a French cohort of idiopathic pancreatitis.
Masson E et al.
Gut, 2025
Genetic Variants in SPINK1 , PRSS1, or CFTR Are Not Associated With The Development of Post-ERCP Pancreatitis.
de Jong MJP et al.
Pancreas, 2025
A Case Report on Protease Serine 1 (PRSS1)-Related Acute Pancreatitis.
Vijayakumar V et al.
Cureus, 2025
Case Report: a family report of hereditary pancreatitis caused by SPINK1 and PRSS1 gene mutations.
Xu J et al.
Frontiers in Genetics, 2025
Case Report: Recognition and management of SMARCA4-deficient renal cell carcinoma.
Wang W et al.
Frontiers in Oncology, 2025
Study of a panel of genetic mutations in fibrocalcific pancreatic diabetes (FCPD): SPINK1 (N34S) mutation unlikely to be relevant.
Budhwar V et al.
Scientific Reports, 2024
Understanding familial risk of pancreatic ductal adenocarcinoma.
Paranal RM et al.
Familial Cancer, 2024
Clinical and genetic characteristics of carriers of the TP53 c.541C > T, p.Arg181Cys pathogenic variant causing hereditary cancer in patients of Arab-Muslim descent.
Arnon J et al.
Familial Cancer, 2024
The Role of Pancreatitis Risk Genes in Endocrine Insufficiency Development After Acute Pancreatitis in Children.
Abu-El-Haija M et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2024
Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.
Buianova A et al.
Plos One, 2024
Genetic Investigations in Turkish Idiopathic Pancreatitis Patients Show Unique Characteristics.
Baş H et al.
The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology, 2023
A narrative review on the role of genetics in children with acute recurrent pancreatitis and chronic pancreatitis.
Yu B et al.
Pediatric Investigation, 2023
Genetic susceptibility to post-endoscopic retrograde cholangiopancreatography pancreatitis identified in propensity score-matched analysis.
Choi YH et al.
The Korean Journal of Internal Medicine, 2023
Multi-omics comparison of malignant and normal uveal melanocytes reveals molecular features of uveal melanoma.
Gentien D et al.
Cell Reports, 2023
Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN study group.
Masson E et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2023
The Coexistence of TRPV6 Variants With Other Pancreatitis-Associated Genes Affects Pediatric-Onset Pancreatitis.
Hirai S et al.
Journal of Pediatric Gastroenterology and Nutrition, 2023
Genetic determinants of pancreatitis: relevance in severe hypertriglyceridemia.
Hang SMT et al.
Current Opinion in Lipidology, 2023
Mouse model of PRSS1 p.R122H-related hereditary pancreatitis highlights context-dependent effect of autolysis-site mutation.
Jancsó Z et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2023
Genetic variants in African-American and Hispanic patients with breast cancer.
Dutta P et al.
Oncology Letters, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Spectrum of PRSS1, SPINK1, CTRC, CFTR, and CPA1 Gene Variants in Chronic Pancreatitis Patients in Russia.
Litvinova MM et al.
Sovremennye Tekhnologii V Meditsine, 2023
The Role of Gut Microbiota and Genetic Susceptibility in the Pathogenesis of Pancreatitis.
Xu F et al.
Gut and Liver, 2022
Expanding ACMG variant classification guidelines into a general framework.
Masson E et al.
Human Genomics, 2022
Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis.
Zou WB et al.
Human Genetics, 2022
The clinical and genetic features of hereditary pancreatitis in South Australia.
Wu D et al.
The Medical Journal of Australia, 2022
Hereditary Pancreatitis-25 Years of an Evolving Paradigm: Frank Brooks Memorial Lecture 2021.
Sahin-Tóth M
Pancreas, 2022
Hereditary pancreatitis: An updated review in pediatrics.
Panchoo AV et al.
World Journal of Clinical Pediatrics, 2022
Identification of candidate genes in a family with cancer overload by whole-exome sequencing.
Ödemiş DA et al.
The Turkish Journal of Pediatrics, 2022
Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.
Cowan RW et al.
Clinical and Translational Gastroenterology, 2021
Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants.
Murali K et al.
Hereditary Cancer in Clinical Practice, 2021
Pancreas Divisum Increases the Risk of Recurrent Acute Pancreatitis in Patients with rs12338 Polymorphism in the Cathepsin B Gene.
Talukdar R et al.
Digestive Diseases and Sciences, 2021
Genetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update.
Wertheim-Tysarowska K et al.
Genes, 2021
Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review.
Chen JM et al.
Genes, 2021
An Autopsy Case of Anaplastic Carcinoma of the Pancreas in a 39-Year-Old Woman that Developed from Hereditary Pancreatitis.
Ota S et al.
The American Journal of Case Reports, 2021
The p.E152K-STIM1 mutation deregulates Ca2+ signaling contributing to chronic pancreatitis.
Burgos M et al.
Journal of Cell Science, 2021
Differences in Age at Onset of Symptoms, and Effects of Genetic Variants, in Patients With Early vs Late-Onset Idiopathic Chronic Pancreatitis in a North American Cohort.
Lewis MD et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2021
Mutational spectrum and precision oncology for biliary tract carcinoma.
Lin J et al.
Theranostics, 2021