Benefit of Surveillance for Pancreatic Cancer in High-Risk Individuals: Outcome of Long-Term Prospective Follow-Up Studies From Three European Expert Centers

Vasen, Hans F. A.; Ibrahim, Isaura S.; Ponce, Carmen Guillén; Slater, Emily P.; Matthäi, Elvira; Carrato, Alfredo; Earl, Julie; Robbers, Kristin; Mil, Anneke M. van; Potjer, Thomas P.; Bonsing, Bert A.; Cappel, Wouter H. de Vos tot Nederveen; Bergman, Wilma; Wasser, Martin; Morreau, Hans; Klöppel, Günter; Schicker, Christoph; Steinkamp, Martin; Figiel, Jens; Espósito, Irene; Mocci, Evelina; Vazquez-Sequeiros, Enrique; Sanjuánbenito, Alfonso; Muñoz-Beltran, Maria; Montáns, José; Langer, Peter; Fendrich, Volker; Bartsch, Detlef K.

doi:10.1200/jco.2015.64.0730

Cited by 292 publications

(283 citation statements)

References 27 publications

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“…In a follow-up report on their website, 7 of the 29 individuals that have continued screening have also been found to have abnormalities of the pancreas [66]. In another study enrolling 411 asymptomatic individuals performed through a multi-institutional collaboration in Europe, surveillance was offered through individuals at risk for pancreatic cancer [67]. Individuals with a confirmed CDKN2A mutation or with a personal history of melanoma and a known mutation in the family were eligible along with individuals from families with two or three first-degree relative with pancreatic cancer.…”

Section: Methods Of Early Detection Of Pancreatic Cancermentioning

confidence: 99%

“…In the familial pancreatic cancer cohort, 13 individuals (6.1%) underwent a surgical resection, but only four had highrisk lesions. In a cohort of 10 individuals with BRCA1/2 or PALB2 mutation, one individual (3.8%) developed pancreatic cancer [67]. Various screening studies have been published throughout the past several years examining several at risk-populations.…”

Section: Methods Of Early Detection Of Pancreatic Cancermentioning

confidence: 99%

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Hereditary Pancreatic Cancer

Borazanci¹,

Haag²

2017

Challenges in Pancreatic Pathology

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Pancreatic cancer is estimated to surpass breast cancer to become the third leading cause of cancer-related death in the USA in 2016. The 5-year overall survival is 7%, and most individuals are diagnosed with advanced disease. Thus, there is a need to improve the early detection of pancreatic cancer in order to detect and improve survival in the same way that mammograms and colonoscopies have improved survival for individuals with breast and colorectal cancer. This chapter discusses the genetics of hereditary pancreatic cancer, the current available screening options, and the use of biomarkers for early detection of pancreatic cancer.

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Section: Methods Of Early Detection Of Pancreatic Cancermentioning

confidence: 99%

Section: Methods Of Early Detection Of Pancreatic Cancermentioning

confidence: 99%

Hereditary Pancreatic Cancer

Borazanci¹,

Haag²

2017

Challenges in Pancreatic Pathology

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“…Familial pancreatic cancer (FPC) is defined by the occurrence of PDAC in two or more first-degree relatives, in the absence of an underlying gene defect [2]. The risk of developing PDAC depends on the particular gene defect (Table 1) [7][8][9][10][11][12], and in FPC, on the number of first-degree family members with PDAC.…”

mentioning

confidence: 99%

“…Most studies involved FPC families, while a few included carriers of a PDAC-associated gene defect [12,[14][15][16]. The screening protocols used in these studies varied widely, including MRI only, both MRI and endoscopic ultrasound (EUS), or MRI with optional EUS.…”

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confidence: 99%

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

Vasen

2017

Familial Cancer

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“…[11][12][13][14] One substantial benefit of genetic testing is the application of preventive measures for carriers of disease susceptibility alleles, notably the at-risk relatives of probands. Pancreatic cancer patients have been reported to carry pathogenic variants in a variety of cancer susceptibility genes, notably HBOC and CRC genes, for which surveillance, medical, and surgical strategies towards prevention or early detection are available.…”

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confidence: 99%

Universal Panel Testing of Pancreatic Cancer Cases for Cancer Predisposition

Young

Thompson

Neklason

et al. 2017

Preprint

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Background and AimsGenes associated with hereditary breast and ovarian cancer (HBOC) and colorectal cancer (CRC) susceptibility have been shown to play a role in pancreatic cancer susceptibility. Germline genetic testing of pancreatic cancer cases could be beneficial for at-risk relatives with pathogenic variants in established HBOC and CRC genes, but it is unclear what proportion of pancreatic cancer cases harbor pathogenic variants in these genes.Methods66 pancreatic cancer cases, unselected for family history and diagnosed at the Huntsman Cancer Hospital (HCH), were sequenced on a custom 34-gene panel including known HBOC and CRC genes. A second set of 156 unselected HCH pancreatic cancer cases were sequenced on an expanded 59-gene panel (n=95) or with a custom 14-gene clinical panel (n=61). Sequencing data from both sets of pancreatic cancer cases, the pancreatic cancer cases of the Cancer Genome Atlas (TCGA), and an unselected pancreatic cancer screen from the Mayo Clinic were combined in a meta-analysis to estimate the proportion of carriers with pathogenic and variants of uncertain significance.ResultsApproximately 8.9% of unselected pancreatic cancer cases at the HCH carried a variant with potential HBOC or CRC screening recommendations. A meta-analysis of unselected pancreatic cancer cases revealed that approximately 10.5% carry a pathogenic variant or HiP-VUS.ConclusionWith the inclusion of both HBOC and CRC susceptibility genes in a panel test, unselected pancreatic cancer cases have a high enough percentage of carriers to rationalize genetic testing for identification of variants that could be further used in cascade testing of healthy relatives to increase HBOC and CRC surveillance measures.

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Benefit of Surveillance for Pancreatic Cancer in High-Risk Individuals: Outcome of Long-Term Prospective Follow-Up Studies From Three European Expert Centers

Abstract: Surveillance of CDNK2A mutation carriers is relatively successful, detecting most PDACs at a resectable stage. The benefit of surveillance in families with FPC is less evident.

Cited by 292 publications

References 27 publications

Hereditary Pancreatic Cancer

Hereditary Pancreatic Cancer

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

Universal Panel Testing of Pancreatic Cancer Cases for Cancer Predisposition

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