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Cancers, Vol. 15, Pages 3930: Lynch Syndrome Biopathology and Treatment: The Potential Role of microRNAs in Clinical Practice
ndro Tagliaferri Lynch syndrome (LS), also known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC), is an autosomal dominant cancer syndrome which causes about 2–3% of cases of colorectal carcinoma. The development of LS is due to the genetic and epigenetic inactivation of genes involved in the DNA mismatch repair (MMR) system, causing an epiphenomenon known as microsatellite instability (MSI). Despite the fact that the genetics of the vast majority of MSI-positive (MSI+) cancers can be explained, the etiology of this specific subset is still poorly understood. As a possible new mechanism, it has been...
Source: Cancers - August 2, 2023 Category: Cancer & Oncology Authors: Serena Ascrizzi Grazia Maria Arillotta Katia Grillone Giulio Carid à Stefania Signorelli Asad Ali Caterina Romeo Pierfrancesco Tassone Pierosandro Tagliaferri Tags: Review Source Type: research

Cancers, Vol. 15, Pages 353: Evaluation of Microsatellite Instability Molecular Analysis versus Immuno-Histochemical Interpretation in Malignant Neoplasms with Different Localizations
John Souglakos MMR gene germline mutations are considered a major genetic disorder in patients with hereditary nonpolyposis colon cancer (HNPCC) or Lynch syndrome; A total of 15% of sporadic colon carcinomas are MSI-High. MSI has also been observed in other cancers, such as endometrial, gastric, and ovarian cancer. The aim of the current study was to correlate and outline the optimal method between the molecular testing of the instability of microsatellite DNA regions (MSI status) and the loss of protein expression by immunehistochemistry (MMR). A total of 242 paraffin-embedded tissues from gastrointestinal, gynecol...
Source: Cancers - January 5, 2023 Category: Cancer & Oncology Authors: Maria Sfakianaki Maria Tzardi Konstantina Tsantaki Chara Koutoulaki Ippokratis Messaritakis Galateia Datseri Eleni Moustou Dimitrios Mavroudis John Souglakos Tags: Article Source Type: research

A Pan-Cancer Analysis on the Systematic Correlation of MutS Homolog 2 (MSH2) to a Malignant Tumor
J Oncol. 2022 Mar 24;2022:9175402. doi: 10.1155/2022/9175402. eCollection 2022.ABSTRACTMutS homolog 2 (MSH2) is a crucial participant in human DNA repair, and lots of the studies functionally associated with it were begun with hereditary nonpolyposis colorectal cancer (HNPCC). MSH2 has also been reported to take part in the progresses of various tumors' formation. With the help of GTEx, CCLE, and TCGA pan-cancer databases, the analysis of MSH2 gene distribution in both tumor tissues and normal control tissues was carried out. Kaplan-Meyer survival plots and COX regression analysis were conducted for the assessment into the...
Source: Journal of Oncology - April 4, 2022 Category: Cancer & Oncology Authors: Hai Yao Zhidong Cao Haochuan Yong Xiaoxing Zhang Xin Zhang Wei Li Shenshen Zhi Wenyan Wu Source Type: research

Narrative review comparing the epidemiology, characteristics, and survival in sporadic colorectal carcinoma/Lynch syndrome
ConclusionFurther studies should be conducted to provide new insights about survival of colorectal carcinoma in Lynch syndrome, as well as the therapeutic alternatives for this neoplasia.ResumoIntroduçãoO carcinoma colorretal é a terceira neoplasia mais prevalente no mundo, bem como a segunda causa de morte por câncer. A maioria destas neoplasias são esporádicas, devidas a mutações somáticas, mas cerca de 15% são hereditárias como a síndrome de Lynch ou Hereditary Nonpolyposis Colorectal Cancer (HNPCC). Apesar de ser a mesma neoplasia, esta apresenta características clinico-patológicas e moleculares distintas...
Source: Journal of Coloproctology - September 14, 2019 Category: Gastroenterology Source Type: research

Enhanced Tumoral MLH1-Expression in MLH1-/PMS2-Deficient Colon Cancer Is Indicative of Sporadic Colon Cancer and Not HNPCC.
This study analyzed semiquantitatively whether the MLH1 staining pattern might be indicative of sporadic or HNPCC-associated colorectal cancer. Using a semiquantitative score ranging from 0 (negative) to 12 (maximum immunopositivity) we analyzed MLH1 expression patterns in 130 MLH1-/PMS2-deficient colorectal cancers. The collective consisted of 70 HNPCC-associated colorectal cancers and 60 sporadic colon cancers. In tumor cells of 70 HNPCC-associated colorectal cancers, 64 cases (91.43%) showed no MLH1 staining, 5 cases weak (7.14%) and 1 case (1.43%) stronger staining intensity. In contrast, in tumor cells of 60 sporadic ...
Source: Pathology Oncology Research - January 6, 2019 Category: Pathology Authors: Tarancón-Diez M, Büttner R, Friedrichs N Tags: Pathol Oncol Res Source Type: research

BRAF mutation: Current and future clinical pathological applications in colorectal carcinoma.
Authors: Ng J, Lu CT, Lam AK Abstract The aims are to review the relevance of the BRAF mutations in the clinical settings of colorectal carcinoma. All the literature concerning BRAF mutations and colorectal carcinoma published in PubMed from 2010 to 2018 was reviewed. Multiple variants of BRAF mutations exist in colorectal cancer, the most common type being V600E. The mutation is found in 5 to 15% of colorectal carcinomas and is less common in Asian populations. BRAF mutations are linked with older age, female gender, cigarette smoking and are more common in the right (proximal) portion of the large intestine. BRAF...
Source: Histology and Histopathology - December 30, 2018 Category: Cytology Tags: Histol Histopathol Source Type: research

Familial Colorectal Cancer Type X.
This study reviews the clinical, morphological and molecular characteristics of FCCTX, and discusses the molecular genetic methods used to localize new FCCTX genes, along with an overview of the genes and chromosomal areas that possibly relate to FCCTX. FCCTX is a heterogeneous group, mainly comprising cases caused by single high-penetrance genes, or by multiple low-penetrance genes acting together, and sporadic CRC cases. FCCTX differs in clinical, morphological and molecular genetic characteristics compared to LS, including a later age of onset, distal location of tumours in the colon, lower risk of developing extracolon...
Source: Current Genomics - October 31, 2017 Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

PD-L1 expression in HNPCC-associated colorectal cancer
Conclusion A subset of HNPCC-associated colorectal cancers in this study clearly showed PD-L1 expression of tumor epithelia and immune cells, therefore, the detection of PD-L1 status is useful.
Source: Pathology Research and Practice - September 19, 2017 Category: Pathology Source Type: research

PD-L1 expression in HNPCC-associated colorectal cancer.
CONCLUSION: A subset of HNPCC-associated colorectal cancers in this study clearly showed PD-L1 expression of tumor epithelia and immune cells, therefore, the detection of PD-L1 status is useful. PMID: 29033182 [PubMed - as supplied by publisher]
Source: Pathology, Research and Practice - September 18, 2017 Category: Pathology Authors: Shiraliyeva N, Friedrichs J, Buettner R, Friedrichs N Tags: Pathol Res Pract Source Type: research

Expending Role of Microsatellite Instability in Diagnosis and Treatment of Colorectal Cancers
ConclusionsMany experts and professional authorities have recommended a universal MSI testing in all individuals newly diagnosed with colorectal cancers.
Source: Journal of Gastrointestinal Cancer - July 11, 2017 Category: Cancer & Oncology Source Type: research

Significance of the monitoring and screening for hereditary nonpolyposis colorectal carcinoma syndrome patients by presenting a case of a family tree.
Abstract INTRODUCTION: Hereditary nonpolyposis colorectal carcinoma (HNPCC) is an autosomal dominant disease, which shows familial clustering. AIM: We would like to emphasize the importance of monitoring the HNPCC syndrome patients by presenting a case of a proven MMR gene mutation carrier and her family tree encompassing 10 years. MATERIALS AND METHOD: To screen a suspected HNPCC Hungarian family member we are taking thorough family histories. If the diagnosis of HNPCC was further supported by immunohistology and the microsatellite status, sequencing of the MMR genes was carried out. RESULTS: A nov...
Source: Orvosi Hetilap - July 1, 2017 Category: General Medicine Authors: Kóder G, Olasz J, Tóth L, Urbancsek H, András C, Bubán T, Palatka K, Damjanovich L, Tanyi M Tags: Orv Hetil Source Type: research

Muir-Torre syndrome caused by exonic deletion of MLH1 due to homologous recombination
ConclusionsFor the genetic analysis of MTS, the possibility of rare copy number variations ofMLH1, as well asMSH2 variations, should be considered. RNA-based screening using puromycin is recommended in order to identify such variations. It remains unclear why only the proband among the pedigree had skin malignancies, however, the skin carcinogenesis might have been related to occupational radiation exposure.
Source: European Journal of Dermatology - December 31, 2016 Category: Dermatology Source Type: research

Mismatch repair protein expression status in Egyptian colorectal carcinoma: a single-centre study
Conclusion: HNPCC is not uncommon in Egypt. Immunohistochemistry can detect MMR-deficient CRCs and can specify the defective gene. Thus, routine testing of all newly diagnosed CRCs for MMR protein expression is recommended to identify suspected cases of HNPCC and accordingly direct their future management.
Source: Egyptian Journal of Pathology - December 1, 2016 Category: Pathology Tags: Original Articles Source Type: research

Upper tract urothelial carcinoma: epidemiology, high risk populations, and detection.
Authors: Redrow GP, Matin SF Abstract Upper tract urothelial carcinoma (UTUC) is a rare but highly morbid genitourinary malignancy. In 2014 approximately 15000 new cases were diagnosed in the United States. It accounts for approximately 5-10% of all urothelial cell carcinomas, and 10% of renal tumors. Recent research has increased understanding of the epidemiology of this disease, including several high-risk populations. Environmental exposure to tobacco as well as aristolochic acid, and other carcinogens significantly increase the development of UTUC. Additionally, the genetic condition of hereditary nonpolyposis ...
Source: Minerva Urologica e Nefrologica - March 25, 2016 Category: Urology & Nephrology Tags: Minerva Urol Nefrol Source Type: research

Hereditary non-BRCA gynaecological tumors.
Authors: Vellone VG, Paudice M, Varesco L Abstract Early diagnosis and proper management of gynecologic malignancies represent a challenge in modern oncology. A growing interest has arisen around the gynecological manifestations of hereditary cancer syndromes. In particular, the discovery of the BRCA1 and BRCA2 genes in ovarian cancer and the mismatch repair genes (MMR) in endometrial carcinoma has revolutionized our approach to the diagnosis and screening of women for ovarian and uterine cancers. The clinical, genetic and pathological features of hereditary cancer syndromes with gynecological manifestations are re...
Source: Minerva Ginecologica - March 2, 2016 Category: OBGYN Tags: Minerva Ginecol Source Type: research