The importance of a well-structured pancreatic screening program for familial and hereditary pancreatic cancer

Vasen, Hans F. A.

doi:10.1007/s10689-017-0066-y

Cited by 8 publications

(4 citation statements)

References 20 publications

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“…These programs are therefore only available in a research setting and/or in specialized centers with high-volume pancreatic surgery, multidisciplinary teams, and well-defined screening protocols. [6] Pancreatic cystic lesions (PCLs) are being detected in higher frequency due to the technological advances and the widespread use of cross-sectional imaging. The prevalence of pancreatic cysts detected incidentally varies from 2% on computed tomography scans [7] to 9.3% on 3T MRI of the abdomen.…”

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confidence: 99%

Quality of life impact of EUS in patients at risk for developing pancreatic cancer

et al. 2020

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Background and Objectives:The current knowledge about the psychological impact of pancreatic cancer (PC) screening is limited. We aimed to assess the changes in quality of life (QOL) and level of distress after undergoing EUS in individuals with pancreatic cystic lesions (PCLs) and in patients at high risk for PC based on genetic and familial factors. Methods: Eighty patients with PCL and/or increased genetic or familial risk for PC who had undergone EUS were contacted. Fifty percent of those patients successfully completed the brief profile of mood states (POMS) and the linear analog scale assessment (LASA) QOL questionnaires to evaluate their pre/post-EUS overall QOL. The effect size (ES) method was used to assess clinically meaningful changes in the scores. Results: There was a significant difference in patients' overall QOL scores before and after the EUS procedure (LASA, mean difference 0.73, standard deviation (SD) 1.76, ES 0.58, P < 0.01; brief POMS, mean difference −5.46, SD −6.72, ES 0.81, P < 0.01). Conclusions: QOL of patients with PCL or increased risk factors for PC is significantly improved after a EUS/EUS-guided fine-needle aspiration (FNA) negative for malignancy.

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confidence: 99%

Quality of life impact of EUS in patients at risk for developing pancreatic cancer

et al. 2020

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“…Healthy high risk individuals are offered a secondary screening program for the early detection of PC at a potentially curative stage. This consists of annual magnetic resonance imaging (MRI) and endoscopic ultra-sound (EUS) and blood biomarkers, including CA19-9 analysis in serum [20,21].…”

Section: Introductionmentioning

confidence: 99%

A comprehensive analysis of candidate genes in familial pancreatic cancer families reveals a high frequency of potentially pathogenic germline variants

et al. 2020

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Background:The 5-year survival rate of patients with pancreatic ductal adenocarcinoma (PDAC) is around 5% due to the fact that the majority of patients present with advanced disease that is treatment resistant. Familial pancreatic cancer (FPC) is a rare disorder that is defined as a family with at least two affected first degree relatives, with an estimated incidence of 4%À10%. The genetic basis is unknown in the majority of families although around 10%À13% of families carry germline mutations in known genes associated with hereditary cancer and pancreatitis syndromes. Methods: Panel sequencing was performed of 35 genes associated with hereditary cancer in 43 PDAC cases from families with an apparent hereditary pancreatic cancer syndrome. Findings: Pathogenic variants were identified in 19% (5/26) of PDAC cases from pure FPC families in the genes MLH1, CDKN2A, POLQ and FANCM. Low frequency potentially pathogenic VUS were also identified in 35% (9/26) of PDAC cases from FPC families in the genes FANCC, MLH1, PMS2, CFTR, APC and MUTYH. Furthermore, an important proportion of PDAC cases harboured more than one pathogenic, likely pathogenic or potentially pathogenic VUS, highlighting the multigene phenotype of FPC. Interpretation: The genetic basis of familial or hereditary pancreatic cancer can be explained in 21% of families by previously described hereditary cancer genes. Low frequency variants in other DNA repair genes are also present in 35% of families which may contribute to the risk of pancreatic cancer development. Funding: This study was funded by the Instituto de Salud Carlos III (Plan Estatal de I + D + i 2013À2016): ISCIII (PI09/02221, PI12/01635, PI15/02101 and PI18/1034) and co-financed by the European Development Regional Fund ''A way to achieve Europe'' (ERDF), the Biomedical Research Network in Cancer: CIBERONC (CB16/12/00446), Red Tem atica de investigaci on cooperativa en c ancer: RTICC (RD12/0036/0073) and La Asociaci on Española contra el C ancer: AECC (Grupos Coordinados Estables 2016).

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“…These programs are therefore only available in a research setting and in specialized centers with high-volume pancreatic surgery, multidisciplinary teams, and well-defined screening protocols. [12]…”

Section: Introductionmentioning

confidence: 99%

Psychological impact of pancreatic cancer screening by EUS or magnetic resonance imaging in high-risk individuals: A systematic review

et al. 2019

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The importance of a well-structured pancreatic screening program for familial and hereditary pancreatic cancer

Cited by 8 publications

References 20 publications

Quality of life impact of EUS in patients at risk for developing pancreatic cancer

Quality of life impact of EUS in patients at risk for developing pancreatic cancer

A comprehensive analysis of candidate genes in familial pancreatic cancer families reveals a high frequency of potentially pathogenic germline variants

Psychological impact of pancreatic cancer screening by EUS or magnetic resonance imaging in high-risk individuals: A systematic review

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