On the advent of MSI testing of all colorectal cancers and a substantial part of other Lynch syndrome-related neoplasms

Dinjens, Winand N.M.; Leerdam, Monique E. van; Wagner, Anja

doi:10.1586/erm.10.37

Cited by 6 publications

(9 citation statements)

References 29 publications

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“…Most sporadic other tumor types with MSI, especially in cases of colon caneer, result from a somatic MLHl promoter methylation event and not from a mutation in one ofthe mismatch repair genes [13,15,[17][18][19][20]. Inactivation of one ofthe mismatch repair genes by mutation is mainly inherited.…”

Section: Discussionmentioning

confidence: 99%

“…A defective mismatch repair system makes cells more vulnerable to mutations, resulting in an increased cancer risk [10,11]. A defective mismatch repair system may result from mutations or epigenetic alterations in one of the following mismatch repair genes: MLHl, MSH2, MSH6, and PMS2 [10][11][12][13][14][15]. These genes encode proteins that survey newly replicated DNA and repair mismatched nucleotides [10][11][12][13][14][15].…”

Section: Introductionmentioning

confidence: 99%

“…A defective mismatch repair system may result from mutations or epigenetic alterations in one of the following mismatch repair genes: MLHl, MSH2, MSH6, and PMS2 [10][11][12][13][14][15]. These genes encode proteins that survey newly replicated DNA and repair mismatched nucleotides [10][11][12][13][14][15]. If any of these proteins is inactive, mismatches preferentially occur in short repetitive DNA sequences, known as microsatellites [10][11][12]14].…”

Section: Introductionmentioning

confidence: 99%

“…The number of repeat units within a microsatellite in mismatch repair-deficient cells deviates from patientmatched normal cells and is called microsatellite instability (MSI) [10][11][12]14]. Hence, MSI is a phenotypic marker of a defective mismatch repair system [10][11][12][13][14][15].…”

Section: Introductionmentioning

confidence: 99%

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Defects in the DNA Mismatch Repair System Do Not Contribute to the Development of Childhood Wilms Tumors

et al. 2013

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Wilms tumor is the most common childhood renal malignancy. Most Wilms tumors occur sporadically, whereas a genetic predisposition is described in 9-19% of the Wilms tumor patients. In addition to constitutional aberrations, somatic aberrations in multiple genetic loci such as WT1, WT2 or locus 11p15.5, CTNNB1, WTX, TP53, FBXW7, and MYCN have also been linked to Wilms tumorigenesis. In sporadic Wilms tumors, however, the driving somatic genetic aberrations need to be further unraveled. Therefore, it is necessary to obtain more insight into other underlying mechanisms. Little is known about the role of defects in the DNA mismatch repair system in the etiology of Wilms tumors. To detect mismatch repair deficiency in a full cohort of Wilms tumor patients, we combined immunohistochemistry for the expression of mismatch repair proteins and microsatellite instability (MSI) analysis by a fluorescent multiplex polymerase chain reaction-based assay. Of the 121 Wilms tumor patients treated between 1987 and 2010 in our institution, 100 samples from 97 patients were available for analysis. Nuclear staining for MLH1, MSH2, MSH6, and PMS2 proteins was present in all 100 Wilms tumor samples. No pattern of MSI was found in any of the 100 investigated Wilms tumor samples. The matching results of normal expression of the mismatch repair proteins detected by immunohistochemistry and the absence of MSI by DNA analysis in 100 Wilms tumor samples lead us to conclude that defects in the DNA mismatch repair system do not play a significant role in the development of Wilms tumors.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Defects in the DNA Mismatch Repair System Do Not Contribute to the Development of Childhood Wilms Tumors

et al. 2013

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“…Sometimes, mutations in the BRAF gene are also tested 30 . Tumor tissues can also be tested for DNA changes in microsatellites and it is called microsatellite instability (MSI) testing 31 . Microsatellite instability is present in most colorectal cancers caused by hereditary non-polyposis colon cancer (HNPCC).…”

Section: Biopsymentioning

confidence: 99%

Colorectal Cancer: A Review of Disease Diagnosis, Surgical Intervention and Treatment Procedures

Ramesh¹,

Dsouza²,

Yogish.³

et al. 2018

IRJPS

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Colorectal cancer, also known as bowel or colon cancer is associated with colon or rectum sections of the intestine. Globally, more than 1 million people are affected by colorectal cancer every year and have been the cause for death in about 715,000 in 2010. As of 2012, it is the second most common cause of cancer in women (9.2% of diagnoses) and the third most common in men (10.0%). It also accounts for the fourth most common cause of cancer death after lung, stomach, and liver cancer. Colorectal cancer develops mostly during aging and as a reason of increasing lifestyle disorders as well as rarely through genetic heredity. Hence, this grows immense interest in the diagnosis, cure, genetic counseling and general awareness about the disease. Surgery, chemotherapy and radiation therapy, either individually or carried out in conjecture, seems to be the best treatment for the disease. Assessment of risk factors is very important in the early detection of the disease. This review aims to compile broadly the available knowledge on the causes of colorectal cancer, the methods for prevention, therapy or treatment of the disease and the guidelines for genetic counseling and general awareness. It also helps in understanding the risk factors in the development of disease.

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Lynch syndrome

MICHAUD¹

2011

Journal of the American Academy of Physician Assistants

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On the advent of MSI testing of all colorectal cancers and a substantial part of other Lynch syndrome-related neoplasms

Cited by 6 publications

References 29 publications

Defects in the DNA Mismatch Repair System Do Not Contribute to the Development of Childhood Wilms Tumors

Defects in the DNA Mismatch Repair System Do Not Contribute to the Development of Childhood Wilms Tumors

Colorectal Cancer: A Review of Disease Diagnosis, Surgical Intervention and Treatment Procedures

Lynch syndrome

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