Pancreatic Cancer in Lynch Syndrome Patients

Bujanda, Luís; Herreros-Villanueva, Marta

doi:10.7150/jca.20750

Cited by 41 publications

(35 citation statements)

References 55 publications

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“…Other extracolonic tumors identified in our LS families, such as pancreatic, prostate, skin and urological cancer, have also been described in other LS populations, with frequencies and risks similar to those described here [ 49 , 50 , 51 , 52 , 53 , 54 ].…”

Section: Discussionsupporting

confidence: 84%

Spectrum and Frequency of Tumors, Cancer Risk and Survival in Chilean Families with Lynch Syndrome: Experience of the Implementation of a Registry

Orellana

Fuente

Canales

et al. 2020

JCM

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Lynch syndrome (LS) is associated with the highest risk of colorectal (CRC) and several extracolonic cancers. In our effort to characterize LS families from Latin America, this study aimed to describe the spectrum of neoplasms and cancer risk by gender, age and gene, and survival in 34 Chilean LS families. Of them, 59% harbored path_MLH1, 23% path_MSH2, 12% path_PMS2 and 6% path_EPCAM variants. A total of 866 individuals at risk were identified, of which 213 (24.6%) developed 308 neoplasms. In males, CRC was the most common cancer (72.6%), while females showed a greater frequency of extracolonic cancers (58.4%), including uterus and breast (p < 0.0001). The cumulative incidence of extracolonic cancers was higher in females than males (p = 0.001). Path_MLH1 variants are significantly more associated with the development of CRC than extracolonic tumors (59.5% vs. 40.5%) when compared to path_MSH2 (47.5% vs. 52.5%) variants (p = 0.05018). The cumulative incidence of CRC was higher in path_MLH1/path_MSH2 carriers compared to path_PMS2 carriers (p = 0.03). In addition, path_MSH2 carriers showed higher risk of extracolonic tumors (p = 0.002). In conclusion, this study provides a snapshot of the LS profile from Chile and the current LS-associated diagnostic practice and output in Chile. Categorizing cancer risks associated with each population is relevant in the genetic counselling of LS patients.

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Section: Discussionsupporting

confidence: 84%

Spectrum and Frequency of Tumors, Cancer Risk and Survival in Chilean Families with Lynch Syndrome: Experience of the Implementation of a Registry

Orellana

Fuente

Canales

et al. 2020

JCM

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“…One such context is a specific single gene mutation that predisposes to PDAC. This is known as Hereditary Pancreatic Cancer (HPC) 32 . Another context is predisposition to other cancer types; certain hereditary cancer syndromes, including Hereditary Breast Ovarian Cancer Syndrome (HBOC), Lynch II, Familial Atypical Multiple Mole Melanoma (FAMMM-PC), Peutz-Jegher's and Li Fraumeni syndrome are associated with PDAC.…”

Section: High-risk Groupsmentioning

confidence: 99%

Early detection of pancreatic cancer

Pereira

Oldfield

Ney

et al. 2020

The Lancet Gastroenterology & Hepatology

320

289

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Pancreatic ductal adenocarcinoma (PDAC) is most frequently detected at an advanced stage. This limits treatment options and contributes to a dismal 5-year survival rate of 3 to 15%. PDAC is relatively uncommon and with current modalities, screening of the asymptomatic adult population is not feasible or recommended. However, screening of individuals in highrisk groups is undertaken. Here we review high-risk groups for PDAC, including individuals with inherited predisposition and patients with pancreatic cystic lesions. We discuss new studies aimed at finding ways of identifying PDAC in high-risk groups, such as individuals with new-onset diabetes mellitus and those attending primary and secondary care practices with suggestive symptoms. We review early detection biomarkers, explore the potential of exploiting social media for PDAC detection, appraise prediction models developed using electronic health records and research data, and examine the application of artificial intelligence to imaging for the purposes of early PDAC detection.

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“…Inherited colorectal cancer and endome-trial cancer are frequently seen in Lynch syndrome patients [ 1 ]. Pancreatic adenocarcinoma (PDA) has been associated with Lynch syndrome with an 8.6-fold increase risk compared with the general population [ 2 ]. Previously reported studies showed a cumulative risk of developing pancreatic adenocarcinoma of 3.68% by age 70 years, with cases among families with a history of Lynch syndrome occurring at an earlier age than sporadic cases [ 3 ].…”

Section: Introductionmentioning

confidence: 99%