Inherited pancreatic cancer

Chen, Fei; Roberts, Nicholas J.; Klein, Alison P.

doi:10.21037/cco.2017.12.04

Cited by 31 publications

(16 citation statements)

References 194 publications

(183 reference statements)

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“…Specific syndromes are also associated with an increased risk of pancreatic cancer compared to the general population. These are summarised in Table 2 [ 30 , 31 ].…”

Section: Non-modifiable Risk Factorsmentioning

confidence: 99%

Pancreatic cancer: A review of clinical diagnosis, epidemiology, treatment and outcomes

McGuigan

Kelly

Turkington

et al. 2018

WJG

1,250

1,033

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This review aims to outline the most up-to-date knowledge of pancreatic adenocarcinoma risk, diagnostics, treatment and outcomes, while identifying gaps that aim to stimulate further research in this understudied malignancy. Pancreatic adenocarcinoma is a lethal condition with a rising incidence, predicted to become the second leading cause of cancer death in some regions. It often presents at an advanced stage, which contributes to poor five-year survival rates of 2%-9%, ranking firmly last amongst all cancer sites in terms of prognostic outcomes for patients. Better understanding of the risk factors and symptoms associated with this disease is essential to inform both health professionals and the general population of potential preventive and/or early detection measures. The identification of high-risk patients who could benefit from screening to detect pre-malignant conditions such as pancreatic intraepithelial neoplasia, intraductal papillary mucinous neoplasms and mucinous cystic neoplasms is urgently required, however an acceptable screening test has yet to be identified. The management of pancreatic adenocarcinoma is evolving, with the introduction of new surgical techniques and medical therapies such as laparoscopic techniques and neo-adjuvant chemoradiotherapy, however this has only led to modest improvements in outcomes. The identification of novel biomarkers is desirable to move towards a precision medicine era, where pancreatic cancer therapy can be tailored to the individual patient, while unnecessary treatments that have negative consequences on quality of life could be prevented for others. Research efforts must also focus on the development of new agents and delivery systems. Overall, considerable progress is required to reduce the burden associated with pancreatic cancer. Recent, renewed efforts to fund large consortia and research into pancreatic adenocarcinoma are welcomed, but further streams will be necessary to facilitate the momentum needed to bring breakthroughs seen for other cancer sites.

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“…Specific syndromes are also associated with an increased risk of pancreatic cancer compared to the general population. These are summarised in Table 2 [ 30 , 31 ].…”

Section: Non-modifiable Risk Factorsmentioning

confidence: 99%

Pancreatic cancer: A review of clinical diagnosis, epidemiology, treatment and outcomes

McGuigan

Kelly

Turkington

et al. 2018

WJG

1,250

1,033

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“…Approximately 10% of patients with PDAC have a germline mutation in an established pancreatic cancer susceptibility gene, including: ATM, BRCA1, BRCA2, CDKN2A, CPA1, MLH1, MSH2, PALB2, PMS2, PRSS1, and STK11 [4][5][6][7][8][9][10][11][12] . Prevalence of a germline mutation is higher still in patients with PDAC and a family history of pancreatic cancer in a firstdegree relative, reaching 15-20% 4 . Inheritance of a germline mutation in an established pancreatic cancer susceptibility gene can impact patient care in several ways.…”

Section: Introductionmentioning

confidence: 99%

Prevalence of Germline Mutations Associated With Cancer Risk in Patients With Intraductal Papillary Mucinous Neoplasms

et al. 2019

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“…Mutations and abnormal regulation of PRSS1 play important roles in the occurrence and development of malignant tumors (Song et al, 2012 ; Ludovini et al, 2016 ; Erinjeri et al, 2018 ). PRSS1 mutations can increase the risk of pancreatic cancer and are closely related to susceptibility to gastric cancer (Chen et al, 2017 ; Na et al, 2020 ). However, their role in promoting ovarian cancer mechanism and ovarian cancer platinum resistance remains to be addressed.…”

Section: Discussionmentioning

confidence: 99%

PRSS1 Upregulation Predicts Platinum Resistance in Ovarian Cancer Patients

Xing

Tian

et al. 2021

Front. Cell Dev. Biol.

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Ovarian cancer is the most frequent cause of death among gynecologic malignancies. A total of 80% of patients who have completed platinum-based chemotherapy suffer from relapse and develop resistance within 2 years. In the present study, we obtained patients' complete platinum (cisplatin and carboplatin) medication information from The Cancer Genome Atlas database and then divided them into two categories: resistance and sensitivity. Difference analysis was performed to screen differentially expressed genes (DEgenes) related to platinum response. Subsequently, we annotated DEgenes into the protein–protein interaction network as seed nodes and analyzed them by random walk. Finally, second-ranking protease serine 1 gene (PRSS1) was selected as a candidate gene for verification analysis. PRSS1's expression pattern was continuously studied in Oncomine and cBio Cancer Genomic Portal databases, revealing the key roles of PRSS1 in ovarian cancer formation. Hereafter, we conducted in-depth explorations on PRSS1's platinum response to ovarian cancer through tissue and cytological experiments. Quantitative real-time polymerase chain reaction and Western blot assay results indicated that PRSS1 expression levels in platinum-resistant samples (tissue/cell) were significantly higher than in samples sensitive to platinum. By cell transfection assay, we observed that knockdown of PRSS1 reduced the resistance of ovarian cancer cells to cisplatin. Meanwhile, overexpression of PRSS1 increased the resistance to cisplatin. In conclusion, we identified a novel risk gene PRSS1 related to ovarian cancer platinum response and confirmed its key roles using multiple levels of low-throughput experiments, revealing a new treatment strategy based on a novel target factor for overcoming cisplatin resistance in ovarian cancer.

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Inherited pancreatic cancer

Cited by 31 publications

References 194 publications

Pancreatic cancer: A review of clinical diagnosis, epidemiology, treatment and outcomes

Pancreatic cancer: A review of clinical diagnosis, epidemiology, treatment and outcomes

Prevalence of Germline Mutations Associated With Cancer Risk in Patients With Intraductal Papillary Mucinous Neoplasms

PRSS1 Upregulation Predicts Platinum Resistance in Ovarian Cancer Patients

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