Correction: Management of patients with increased risk for familial pancreatic cancer: updated recommendations for the international cancer of the pancreas screening (CAPS) Consortium

Background and aimThe International Cancer of the Pancreas Screening Consortium met in 2018 to update its consensus recommendations for the management of individuals with increased risk of pancreatic cancer based on family history or germline mutation status (high-risk individuals).MethodsA modified Delphi approach was employed to reach consensus among a multidisciplinary group of experts who voted on consensus statements. Consensus was considered reached if ≥75% agreed or disagreed.ResultsConsensus was reached on 55 statements. The main goals of surveillance (to identify high-grade dysplastic precursor lesions and T1N0M0 pancreatic cancer) remained unchanged. Experts agreed that for those with familial risk, surveillance should start no earlier than age 50 or 10 years earlier than the youngest relative with pancreatic cancer, but were split on whether to start at age 50 or 55. Germline ATM mutation carriers with one affected first-degree relative are now considered eligible for surveillance. Experts agreed that preferred surveillance tests are endoscopic ultrasound and MRI/magnetic retrograde cholangiopancreatography, but no consensus was reached on how to alternate these modalities. Annual surveillance is recommended in the absence of concerning lesions. Main areas of disagreement included if and how surveillance should be performed for hereditary pancreatitis, and the management of indeterminate lesions.ConclusionsPancreatic surveillance is recommended for selected high-risk individuals to detect early pancreatic cancer and its high-grade precursors, but should be performed in a research setting by multidisciplinary teams in centres with appropriate expertise. Until more evidence supporting these recommendations is available, the benefits, risks and costs of surveillance of pancreatic surveillance need additional evaluation.

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International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer

Gut ◽

10.1136/gutjnl-2012-303108 ◽

2012 ◽

Vol 62 (3) ◽

pp. 339-347 ◽

Cited By ~ 413

Author(s):

Marcia Irene Canto ◽

Femme Harinck ◽

Ralph H Hruban ◽

George Johan Offerhaus ◽

Jan-Werner Poley ◽

...

Keyword(s):

Pancreatic Cancer ◽

Familial Pancreatic Cancer ◽

Cancer Of The Pancreas ◽

Increased Risk

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Genomic Features and Clinical Management of Patients with Hereditary Pancreatic Cancer Syndromes and Familial Pancreatic Cancer

International Journal of Molecular Sciences ◽

10.3390/ijms20030561 ◽

2019 ◽

Vol 20 (3) ◽

pp. 561 ◽

Cited By ~ 8

Author(s):

Akihiro Ohmoto ◽

Shinichi Yachida ◽

Chigusa Morizane

Keyword(s):

Pancreatic Cancer ◽

Checkpoint Inhibitors ◽

Susceptibility Gene ◽

Treatment Strategies ◽

Familial Pancreatic Cancer ◽

Cancer Syndrome ◽

Increased Risk ◽

Clinical Benefits ◽

Surveillance Programs ◽

Cancer Syndromes

Pancreatic cancer (PC) is one of the most devastating malignancies; it has a 5-year survival rate of only 9%, and novel treatment strategies are urgently needed. While most PC cases occur sporadically, PC associated with hereditary syndromes or familial PC (FPC; defined as an individual having two or more first-degree relatives diagnosed with PC) accounts for about 10% of cases. Hereditary cancer syndromes associated with increased risk for PC include Peutz-Jeghers syndrome, hereditary pancreatitis, familial atypical multiple mole melanoma, familial adenomatous polyposis, Lynch syndrome and hereditary breast and ovarian cancer syndrome. Next-generation sequencing of FPC patients has uncovered new susceptibility genes such as PALB2 and ATM, which participate in homologous recombination repair, and further investigations are in progress. Previous studies have demonstrated that some sporadic cases that do not fulfil FPC criteria also harbor similar mutations, and so genomic testing based on family history might overlook some susceptibility gene carriers. There are no established screening procedures for high-risk unaffected cases, and it is not clear whether surveillance programs would have clinical benefits. In terms of treatment, poly (ADP-ribose) polymerase inhibitors for BRCA-mutated cases or immune checkpoint inhibitors for mismatch repair deficient cases are promising, and clinical trials of these agents are underway.

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BRCA2 and predisposition to pancreatic and other cancers

Expert Reviews in Molecular Medicine ◽

10.1017/s146239940100309x ◽

2001 ◽

Vol 3 (14) ◽

pp. 1-10 ◽

Cited By ~ 7

Author(s):

Meghan A. Arnold ◽

Michael Goggins

Keyword(s):

Breast Cancer ◽

Pancreatic Cancer ◽

Early Detection ◽

Pancreatic Adenocarcinoma ◽

Germline Mutations ◽

Familial Pancreatic Cancer ◽

Pancreatic Carcinogenesis ◽

Increased Risk ◽

Late Event ◽

Genetic Events

Pancreatic adenocarcinoma is a major cause of cancer deaths in the industrialised world. Recent work has focused on the genetics of pancreatic cancer with a goal of finding an early detection marker that might allow for greater rates of survival than are currently possible. The breast cancer 2 gene (BRCA2) is one of numerous genes implicated in familial pancreatic cancer. Carriers of germline mutations of the BRCA2 gene have an increased risk of several cancers, among them pancreatic adenocarcinoma. During pancreatic carcinogenesis, bi-allelic inactivation of BRCA2 occurs as a late event, suggesting that other genetic events must occur before neoplastic cells can tolerate loss of BRCA2.

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Tu1866 Quality of Life and Cancer Worry of Individuals With Increased Risk for Familial Pancreatic Cancer

Gastroenterology ◽

10.1016/s0016-5085(13)63223-0 ◽

2013 ◽

Vol 144 (5) ◽

pp. S-867

Author(s):

Eun Ji Shin ◽

Michael G. Goggins ◽

Richard D. Schulick ◽

Gloria M. Petersen ◽

Ralph H. Hruban ◽

...

Keyword(s):

Quality Of Life ◽

Pancreatic Cancer ◽

Familial Pancreatic Cancer ◽

Cancer Worry ◽

Increased Risk

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Evaluating Susceptibility to Pancreatic Cancer: ASCO Provisional Clinical Opinion

Journal of Clinical Oncology ◽

10.1200/jco.18.01489 ◽

2019 ◽

Vol 37 (2) ◽

pp. 153-164 ◽

Cited By ~ 35

Author(s):

Elena M. Stoffel ◽

Shannon E. McKernin ◽

Randall Brand ◽

Marcia Canto ◽

Michael Goggins ◽

...

Keyword(s):

Pancreatic Cancer ◽

Genetic Testing ◽

Family History ◽

Pancreatic Adenocarcinoma ◽

Health Care Providers ◽

Expert Panel ◽

Familial Pancreatic Cancer ◽

Care Providers ◽

Increased Risk ◽

History Of

Purpose An ASCO provisional clinical opinion (PCO) offers timely clinical direction to ASCO’s membership and other health care providers. This PCO addresses identification and management of patients and family members with possible predisposition to pancreatic adenocarcinoma. Methods ASCO convened an Expert Panel and conducted a systematic review of the literature published from January 1998 to June 2018. Results of the databases searched were supplemented with hand searching of the bibliographies of systematic reviews and selected seminal articles and contributions from Expert Panel members’ curated files. Provisional Clinical Opinion All patients diagnosed with pancreatic adenocarcinoma should undergo assessment of risk for hereditary syndromes known to be associated with an increased risk for pancreatic adenocarcinoma. Assessment of risk should include a comprehensive review of family history of cancer. Individuals with a family history of pancreatic cancer affecting two first-degree relatives meet criteria for familial pancreatic cancer (FPC). Individuals (cancer affected or unaffected) with a family history of pancreatic cancer meeting criteria for FPC, those with three or more diagnoses of pancreatic cancer in same side of the family, and individuals meeting criteria for other genetic syndromes associated with increased risk for pancreatic cancer have an increased risk for pancreatic cancer and are candidates for genetic testing. Germline genetic testing for cancer susceptibility may be discussed with individuals diagnosed with pancreatic cancer, even if family history is unremarkable. Benefits and limitations of pancreatic cancer screening should be discussed with individuals whose family history meets criteria for FPC and/or genetic susceptibility to pancreatic cancer. Additional information is available at www.asco.org/gastrointestinal-cancer-guidelines .

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Hereditary vs Familial Pancreatic Cancer: Associated Genetic Syndromes and Clinical Perspective

ONCOLOGY ◽

10.46883/onc.3406.0196 ◽

2020 ◽

Author(s):

Mehmet Sitki Copur ◽

Geoffrey Talmon ◽

Jonathan Hart ◽

Shaheed Merani ◽

Luciano Vargas

Keyword(s):

Pancreatic Cancer ◽

Genetic Testing ◽

Ductal Adenocarcinoma ◽

Rapid Progression ◽

Familial Pancreatic Cancer ◽

Genetic Syndromes ◽

Causative Gene ◽

Increased Risk ◽

American Society ◽

Cancer Network

Pancreatic ductal adenocarcinoma (PDAC) is a disease marked by high rates of mortality; it is mostly incurable at the time of diagnosis. Only about 7% of patients survive 5 years after diagnosis. Diagnosis at a late stage and rapid progression with minimal response to available treatments are the main reasons for this poor outcome. It is crucial to identify individuals at high risk of developing PDAC so preventive and early detection measures can be employed. Approximately 10% to 15% of PDAC cases have a hereditary or familial basis. In the majority of PDAC cases, no main causative gene has been identified, but several known germline pathogenic mutations have been shown to be related to an increased risk of this cancer. The presence of 2 or more patients with pancreatic cancer within the circle of first-degree relatives, without the presence of a causative germline mutation, is defined as familial pancreatic cancer; this accounts for 4% to 10% of PDAC. Based on the growing evidence supporting the benefit of germline genetic testing in patients with PDAC, both the American Society of Clinical Oncology and the National Comprehensive Cancer Network recently updated their guidelines to include recommendations around genetic testing for patients with pancreatic cancer. However, there is no general consensus on the group of patients and individuals who should be studied and screened. We present a demonstrative case and review the available data on hereditary and familial PDAC.

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