Genetics and Genetic Testing in Pancreatic Cancer

Whitcomb, David C.; Shelton, Celeste; Brand, Randall E.

doi:10.1053/j.gastro.2015.07.057

Cited by 64 publications

(50 citation statements)

References 145 publications

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“…13,88 Only about 20% of individuals with apparent hereditary pancreatic cancer risk, however have an identifiable germline mutation in one of these genes. 96 The remainder of patients with suspected pancreatic cancer risk are often classified as having familial pancreatic cancer (FPC), which is currently defined as a family with two or more individuals who are first-degree relatives of one another with pancreatic cancer, in the absence of an identifiable genetic mutation. 13 …”

Section: Hereditary/familial Pancreatic Cancermentioning

confidence: 99%

Advances in Hereditary Colorectal and Pancreatic Cancers

Underhill

Germansky

Yurgelun

2016

Clinical Therapeutics

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Purpose Innovations in genetic medicine have lead to improvements in the early detection, prevention, and treatment of cancer for patients with inherited risks of gastrointestinal cancer, particularly hereditary colorectal cancer and hereditary pancreatic cancer. Methods This review provides an update on recent data and key advances that have improved the identification, understanding, and management of patients with hereditary colorectal cancer and hereditary pancreatic cancer. Findings This review details recent and emerging data that highlight the developing landscape of genetics in hereditary colorectal and pancreatic cancer risk. A summary is provided of the current state-of-the-art practices for identifying, evaluating, and managing patients with suspected hereditary colorectal cancer and pancreatic cancer risk. The impact of next-generation sequencing technologies in the clinical diagnosis of hereditary gastrointestinal cancer and also in discovery efforts of novel genes linked to familial cancer risk are discussed. Emerging targeted therapies that may play a particularly important role in the treatment of patients with hereditary forms of colorectal cancer and pancreatic cancer are also reviewed. Current approaches for pancreatic cancer screening and the psychosocial impact of such procedures are also detailed. Implications Given the availability of novel diagnostic, risk-reducing, and therapeutic strategies that exist for patients with hereditary risk for colorectal or pancreatic cancer, it is imperative that clinicians be vigilant about evaluating patients for hereditary cancer syndromes. Continuing to advance genetics research in hereditary gastrointestinal cancers will allow for more progress to be made in personalized medicine and prevention.

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Section: Hereditary/familial Pancreatic Cancermentioning

confidence: 99%

Advances in Hereditary Colorectal and Pancreatic Cancers

Underhill

Germansky

Yurgelun

2016

Clinical Therapeutics

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“…These screening programs collect data to generate more knowledge about origin, development, genetic background, tumor cell and stroma interaction, diagnosis, and therapy of pancreatic cancer [19,21,23]. They also screen for non-invasive precursor lesions, which can be further observed or resected to avoid the development of cancer and improve the survival of high-risk individuals [19].…”

Section: Introductionmentioning

confidence: 99%

Familial Pancreatic Cancer

Benzel

Fendrich

2018

Oncol Res Treat

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Familial pancreatic cancer accounts for 10% of all patients with pancreatic cancer. Because the 5-year survival rate of pancreatic cancer is only 7%, screening programs for high-risk individuals are essential and might be advantageous. Pancreatic ductal adenocarcinoma mostly shows symptoms at an advanced state and treatment is not efficient enough to cure most patients. People with hereditary tumor syndromes or their affected relatives can also be included in such screening programs. Besides the collection of data to investigate the background of the disease, these screening programs aim to diagnose and treat precursor lesions so that more dangerous, invasive lesions are prevented. These precursor lesions can be pancreatic intraepithelial neoplasia, intraductal papillary mucinous neoplasm, and mucinous cystic neoplasm. This review summarizes the latest knowledge of pancreatic screening programs, shows the procedure of pancreatic cancer screening, and gives an overview of current guidelines.

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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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Genetics and Genetic Testing in Pancreatic Cancer

Cited by 64 publications

References 145 publications

Advances in Hereditary Colorectal and Pancreatic Cancers

Advances in Hereditary Colorectal and Pancreatic Cancers

Familial Pancreatic Cancer

Universal Panel Testing of Pancreatic Cancer Cases for Cancer Predisposition

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