Frequency of Mismatch Repair Protein Deficiency in a Puerto Rican Population with Colonic Adenoma and Adenocarcinoma

Reverón, Dayana; Lopez, Christian; Gutierrez, Sylvia; Sayegh, Zena; Antonia, Teresita; Dutil, Julie; Malafa, Mokenge P.; Coppola, Domenico

doi:10.21873/cgp.20084

Cited by 9 publications

(9 citation statements)

References 29 publications

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“…In the unselected group, 5% of adenomas with high grade dysplasia (11 out of 212) showed dMMR/MSI; while 8% of adenomas with low grade dysplasia (10 out of 130) showed dMMR/MSI [27,30,39,44,49,53,55].…”

Section: Grade Of Adenomasmentioning

confidence: 94%

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Microsatellite instability screening in colorectal adenomas to detect Lynch syndrome patients? A systematic review and meta-analysis

et al. 2019

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The colorectal cancer spectrum has changed due to population screening programs, with a shift toward adenomas and early cancers. Whether it would be a feasible option to test these adenomas for detection of Lynch syndrome (LS) patients is unclear. Through meta-analysis and systematic review, risk factors for DNA mismatch repair deficiency (dMMR) and microsatellite instability (MSI) in adenomas were identified in LS and unselected patient cohorts. Data were extracted for patient age and MMR variant together with adenoma type, grade, size, and location. A total of 41 studies were included, and contained more than 519 LS patients and 1698 unselected patients with 1142 and 2213 adenomas respectively. dMMR/MSI was present in 69.5% of conventional adenomas in LS patients, compared with 2.8% in unselected patients. In the LS cohort, dMMR/MSI was more frequently present in patients older than 60 years (82% versus 54%). dMMR/MSI was also more common in villous adenomas (84%), adenomas over 1 cm (81%), and adenomas with high grade dysplasia (88%). No significant differences were observed for dMMR/MSI in relation to MMR variants and location of adenomas. In the context of screening, we conclude that detection of dMMR/MSI in conventional adenomas of unselected patients is uncommon and might be considered as indication for LS testing. Within the LS cohort, 69.5% of LS patients could have been detected through dMMR/MSI screening of their conventional adenomas.

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Section: Grade Of Adenomasmentioning

confidence: 94%

“…Including Lynch like patients cohort, we included at least 1698 patients (unknown numbers of patients in five studies[24][25][26][27][28]), with 2213 adenomas of which 2119 were conventional adenomas.…”

mentioning

confidence: 99%

Microsatellite instability screening in colorectal adenomas to detect Lynch syndrome patients? A systematic review and meta-analysis

et al. 2019

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“…PMS2 is one of the mismatch repair (MMR) genes [39], which causes genetic instability and is associated with tumour progression [40]. Deletion was believed to be the most frequent mutation of PMS2 [41, 42], which was previously referred to as hereditary nonpolyposis colorectal cancer [43] and other types of malignancy [44, 45]. However, beyond the deletion of PSM2, we did not observe any mutation in other MMR genes (MLH1, MSH2 and MSH6) in this case.…”

Section: Discussionmentioning

confidence: 99%

Extremely rare case of intravascular solitary fibrous tumour in the inferior vena cava with review of the literature

2019

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Background Solitary fibrous tumour (SFT) is a mesenchymal tumour of fibroblastic type, and it develops in almost any part of the human body. However, according to previous studies, the occurrence of intravascular SFTs is extremely rare. Case presentation We reported a case of intravascular SFT in a 67-year-old woman who has been experiencing swelling and pain in the right leg for 2 months. Computed tomography venography scan revealed a well-defined mass obstructing the inferior vena cava (IVC). Surgical resection was performed, and histopathologic and immunohistochemical results were consistent with SFT. Further, next-generation sequencing (NGS) analysis was performed, and results revealed two tumour-related gene mutations (deletion of PMS2 and variation of ESR1 [L536P]). The patient did not receive any adjuvant therapy, and no signs of tumour progression were observed during the 6-month follow-up. Conclusion To the best of our knowledge, this study first presented about SFT arising from the IVC and carried out an NGS analysis to validate the molecular mechanism of such condition.

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“…Proteomics A proteomics study of Puerto Rican CRC patients revealed lower frequency of microsatellite instability (MSI)-related proteins, which result from DNA mismatch repair genes (MMR). Higher prevalence of the mismatch repair gene MutL homolog 1, colon cancer, nonpolyposis type 2 (MLH1) was found in 6-9% of colon tumors [58].…”

Section: Biomarkers From the Perspective Of Systems Biologymentioning

confidence: 99%

Applying an Exposome-wide Association Study (ExWAS) Approach to Latino Cancer Disparities

Juárez

Hood

Song

et al. 2022

Advancing the Science of Cancer in Latinos

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Latinos have higher incidence rates of cervical, gall bladder, liver, and gastric cancer, and higher mortality rates for six cancer sites than US Whites. This review chapter focuses on Latino cancer disparities, how the exposome can be applied to understanding Latino cancer disparities, and how environmental exposures lead to alterations in key biological pathways at the cellular, molecular, and system level, helping to explain the increased risk for population level cancer disparities among Latinos. An exposome-wide association study (ExWAS) approach is proposed as a novel conceptual framework to assess the role of multiple chemical and non-chemical exposures in the cause and progression of cancer among Latinos across the life course. Also discussed is how this strategy could be exploited by using biomarkers of susceptibility, exposure, and effect; and how a trans-omics approach, using recent advances in genomics, epigenomics, transcriptomics, metabolomics, proteomics, and lipidomics, could be used to deploy new biomarkers that serve both prognostic and diagnostic purposes. Also outlined are the knowledge gaps and scope for future studies in this area with implications for public health and policy interventions.

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Frequency of Mismatch Repair Protein Deficiency in a Puerto Rican Population with Colonic Adenoma and Adenocarcinoma

Cited by 9 publications

References 29 publications

Microsatellite instability screening in colorectal adenomas to detect Lynch syndrome patients? A systematic review and meta-analysis

Microsatellite instability screening in colorectal adenomas to detect Lynch syndrome patients? A systematic review and meta-analysis

Extremely rare case of intravascular solitary fibrous tumour in the inferior vena cava with review of the literature

Applying an Exposome-wide Association Study (ExWAS) Approach to Latino Cancer Disparities

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