PanGen-Fam: Spanish registry of hereditary pancreatic cancer. Issue 14 (September 2015)

• Record Type: Journal Article
• Authors: Mocci, E.; Guillen-Ponce, C.; Earl, J.; Marquez, M.; Solera, J.; Salazar-López, M.-T.; Calcedo-Arnáiz, C.; Vázquez-Sequeiros, E.; Montans, J.; Muñoz-Beltrán, M.; Vicente-Bártulos, A.; González-Gordaliza, C.; Sanjuanbenito, A.; Guerrero, C.; Mendía, E.; Lisa, E.; Lobo, E.; Martínez, J.C.; Real, F.X.; Malats, N.; Carrato, A.
• Is Part Of: European journal of cancer. Volume 51:Issue 14(2015:Sep.)
• Page Start: 1911
• Page End: 1917
• Publication Date: 2015-09
• Subjects: Cancer -- Periodicals; Neoplasms -- Periodicals; Cancer -- Périodiques; Cancer; Tumors; Electronic journals; Periodicals; Electronic journals; 616.994
• DOI: 10.1016/j.ejca.2015.07.004
• Languages: English
• ISSNs: 0959-8049

Abstract

<abstract xml:lang="en" abstract-type="author" id="ab005"> <title id="st005">Abstract</title> <sec> <title id="st010">Purpose</title> <p id="sp0005">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.</p> </sec> <sec> <title id="st015">Methods/patients</title> <p id="sp0010">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.</p> </sec> <sec> <title id="st020">Results</title> <p id="sp0015">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 <italic>BRCA2</italic> and one for <italic>BRCA1</italic> 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.</p> </sec> <sec> <title id="st025">Concluding statement</title> <p id="sp0020">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.</p> </sec> </abstract>