title: PanGen-Fam: Spanish registry of hereditary pancreatic cancer.
abstract: OBJECTIVE
  To describe the organisation of the registry and the preliminary results in terms of characteristics of high-risk pancreatic ductal adenocarcinoma (PDAC) families recruited to date and findings of the screening programme. To compare early onset sporadic cases (⩽50 years), sporadic cases (>50 years) and cases with family history of cancer, for PDAC possible risk factors.
  
  
  METHODS
  Families with hereditary cancer syndromes predisposing to PDAC were recruited from two main sources: Spanish hospitals participating in PanGenEU, a pan-European multicentre case-control study, and their genetic counseling unit. Individuals at high-risk of PDAC were enrolled into a screening programme, consisting of Endoscopic ultrasound, computerised tomography, magnetic resonance imaging. Genetic testing of candidate genes was offered according to each patient's risk.
  
  
  RESULTS
  Among 577 consecutive PDAC cases, recruited via PanGenEU, 36 (6%) had ⩾2 first-degree relative with PDAC: Familial pancreatic cancer (FPC). So far PanGen-Fam has recruited 42 high-risk PDAC families; 25 (60%) had FPC. Five index cases with cancer were positive for BRCA2 and one for BRCA1 germline mutations. In the second year of prospective PDAC screening, one neuroendocrine tumour and a high-grade dysplasia lesion suspicious of carcinoma were diagnosed among 41 high-risk individuals. Furthermore EUS detected chronic-pancreatitis-like parenchymal changes in 15 patients.
  
  
  CONCLUSIONS
  The identification and recruitment of PDAC high-risk families into the PanGen-Fam registry provides an opportunity to detect early onset cancer and precursor pancreatic cancer lesions at a potentially curative stage and to increase the knowledge of the natural history of the disease.
authors.affiliation: Medical Oncology Department, Ramon y Cajal University Hospital, IRYCIS, Madrid, Spain.
authors.forename: E
authors.initials: E
authors.lastname: Mocci
authors.affiliation: Medical Oncology Department, Ramon y Cajal University Hospital, IRYCIS, Madrid, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Guillen-Ponce
authors.affiliation: Medical Oncology Department, Ramon y Cajal University Hospital, IRYCIS, Madrid, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Earl
authors.affiliation: Genetic and Molecular Epidemiology Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Marquez
authors.affiliation: Molecular Oncogenetics Unit, Institute of Medical and Molecular Genetics, La Paz Hospital, Madrid, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Solera
authors.affiliation: Medical Oncology Department, Ramon y Cajal University Hospital, IRYCIS, Madrid, Spain.
authors.forename: M-T
authors.initials: MT
authors.lastname: Salazar-López
authors.affiliation: Medical Oncology Department, Ramon y Cajal University Hospital, IRYCIS, Madrid, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Calcedo-Arnáiz
authors.affiliation: Digestive Department, Ramon y Cajal University Hospital, IRYCIS, Madrid, Spain.
authors.forename: E
authors.initials: E
authors.lastname: Vázquez-Sequeiros
authors.affiliation: Pathology Department, Ramon y Cajal University Hospital, IRYCIS, Madrid, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Montans
authors.affiliation: Radiology Department, Ramon y Cajal University Hospital, IRYCIS, Madrid, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Muñoz-Beltrán
authors.affiliation: Radiology Department, Ramon y Cajal University Hospital, IRYCIS, Madrid, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Vicente-Bártulos
authors.affiliation: Radiology Department, Ramon y Cajal University Hospital, IRYCIS, Madrid, Spain.
authors.forename: C
authors.initials: C
authors.lastname: González-Gordaliza
authors.affiliation: Surgery Department, Ramon y Cajal University Hospital, IRYCIS, Madrid, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Sanjuanbenito
authors.affiliation: Medical Oncology Department, Ramon y Cajal University Hospital, IRYCIS, Madrid, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Guerrero
authors.affiliation: Surgery Department, Ramon y Cajal University Hospital, IRYCIS, Madrid, Spain.
authors.forename: E
authors.initials: E
authors.lastname: Mendía
authors.affiliation: Surgery Department, Ramon y Cajal University Hospital, IRYCIS, Madrid, Spain.
authors.forename: E
authors.initials: E
authors.lastname: Lisa
authors.affiliation: Surgery Department, Ramon y Cajal University Hospital, IRYCIS, Madrid, Spain.
authors.forename: E
authors.initials: E
authors.lastname: Lobo
authors.affiliation: Genetic and Molecular Epidemiology Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
authors.forename: J C
authors.initials: JC
authors.lastname: Martínez
authors.affiliation: Epithelial Carcinogenesis Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain; Department de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona, Spain.
authors.forename: F X
authors.initials: FX
authors.lastname: Real
authors.affiliation: Genetic and Molecular Epidemiology Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
authors.forename: N
authors.initials: N
authors.lastname: Malats
authors.affiliation: Medical Oncology Department, Ramon y Cajal University Hospital, IRYCIS, Madrid, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Carrato
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D021441:Carcinoma, Pancreatic Ductal / Q000235:genetics* / Q000473:pathology; D003952:Diagnostic Imaging / Q000379:methods; D055088:Early Detection of Cancer; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D040941:Heredity; D006801:Humans; D008297:Male; D008875:Middle Aged; D010190:Pancreatic Neoplasms / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D011237:Predictive Value of Tests; D011446:Prospective Studies; D012042:Registries; D018570:Risk Assessment; D012307:Risk Factors; D013030:Spain; D055815:Young Adult
keywords: Early onset PDAC; Familial pancreatic cancer; High-risk individuals; Pancreatic ductal adenocarcinoma; Precursor lesions; Screening; Tumour hereditary syndromes