Hereditary Nonpolyposis Colorectal Cancer Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

The CAPP II trial of aspirin in Lynch syndrome/HNPCC: is it time for everyone to be treated?
(Source: Familial Cancer)
Source: Familial Cancer - January 9, 2021 Category: Cancer & Oncology Source Type: research

Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC): A not so common hereditary cancer syndrome in Indian population
We present here our experience and spectrum of pathogenic variants observed in this patient cohort and review on published studies describing molecular profile of Indian patients with CRC syndromes. (Source: Indian Journal of Gastroenterology)
Source: Indian Journal of Gastroenterology - November 16, 2020 Category: Gastroenterology Source Type: research

Updates in the field of hereditary nonpolyposis colorectal cancer.
Authors: Peltomäki P, Olkinuora A, Nieminen TT Abstract INTRODUCTION: Up to one third of colorectal cancers show familial clustering and 5% are hereditary single-gene disorders. Hereditary non-polyposis colorectal cancer comprises DNA mismatch repair-deficient and -proficient subsets, represented by Lynch syndrome (LS) and familial colorectal cancer type X (FCCTX), respectively. Accurate knowledge of molecular etiology and genotype-phenotype correlations are critical for tailored cancer prevention and treatment. AREAS COVERED: The authors highlight advances in the molecular dissection of hereditar...
Source: Expert Review of Gastroenterology and Hepatology - August 13, 2020 Category: Gastroenterology Tags: Expert Rev Gastroenterol Hepatol Source Type: research

Different surgical outcome and follow-up status between dMMR and pMMR colorectal cancer patients who fulfilled with Amsterdam-II criteria
Although hereditary non-polyposis colorectal cancer (HNPCC) could be subtyped into proficient or deficient mismatch repair gene expression (pMMR or dMMR), distinct clinical features between these two subgroups... (Source: World Journal of Surgical Oncology)
Source: World Journal of Surgical Oncology - August 7, 2020 Category: Cancer & Oncology Authors: Ci-Yuan Sun, Jy-Ming Chiang, Tse-Ching Chen, Hsin-Yun Hung and Jeng-Fu You Tags: Research Source Type: research

Genomic alterations in Turcot syndrome: Insights from whole exome sequencing
Turcot's syndrome (TS) was originally described as familial predisposition to cancer of the large bowel and brain [1], and is a phenotypic variant of Hereditary Non-Polyposis Colorectal Cancer (HNPCC). HNPCC is caused by germline mutations in one of the DNA mismatch-repair (MMR)-genes MLH1, PMS1, PMS2, MSH2, or MSH6. Identification of HNPCC is based upon clinicopathological features including MMR-deficiency determined by immunohistochemistry or microsatellite instability (MSI)-analysis. Lifetime brain tumor risk in HNPCC is 3%. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - July 23, 2020 Category: Neurology Authors: Philipp Karschnia, E. Zeynep Erson-Omay, Anita J. Huttner, Leon D. Kaulen, Daniel Duran, Robert K. Fulbright, Murat G ünel, Joachim M. Baehring Tags: Letter to the Editor Source Type: research

Analysis of metachronous colorectal neoplasms and survival following segmental or extended resection in patients with hereditary non-polyposis colorectal cancer
ConclusionThe incidence of metachronous cancer was not significantly different between the ER and SR groups; however, that of cumulative metachronous adenoma was higher in the SR group. Hence, intensive surveillance colonoscopy may be sufficient for patients with HNPCC after non-extensive colon resection. (Source: International Journal of Colorectal Disease)
Source: International Journal of Colorectal Disease - June 26, 2020 Category: Gastroenterology Source Type: research

Expectations and psychological issues before genetic counseling: analysis of distress determinant factors
ConclusionsGreater level of distress identified on females, single and younger subjects. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - April 28, 2020 Category: Cancer & Oncology Source Type: research

[Hereditary gastric cancer: Challenges for the pathologist in 2020].
Abstract Gastric cancer is the third most common cancer worldwide. The majority of gastric cancers are sporadic but familial clustering is seen in more than 10% of cases. This manuscript is divided into two parts. The first part is dedicated to the non-syndromic hereditary gastric cancer, particularly the hereditary diffuse gastric cancer (HDGC) and other gastric polyposes including the recently described GAPPS (Gastric adenocarcinoma and proximal polyposis of the stomach). The second part concerns the syndromic gastric cancer, namely the HNPCC syndrome (Hereditary Non Polyposis Colorectal Cancer) occurrin...
Source: Annales de Pathologie - March 4, 2020 Category: Pathology Authors: Renaud F, Svrcek M Tags: Ann Pathol Source Type: research

Extent of Pedigree Required to Screen for and Diagnose Hereditary Nonpolyposis Colorectal Cancer: Comparison of Simplified and Extended Pedigrees
CONCLUSIONS: A simplified pedigree is acceptable for selecting candidates to screen for hereditary colorectal cancer, whereas an extended pedigree is still required for a more precise diagnosis of Lynch syndrome, especially in younger patients. See Video Abstract at http://links.lww.com/DCR/B97. EXTENSIÓN DE PEDIGREE REQUERIDO EN LA DETECCIÓN Y DIAGNÓSTICO DE CÁNCER COLORRECTAL HEREDITARIO SIN POLIPOSIS: COMPARACIÓN DE LOS PEDIGREES SIMPLIFICADO Y EL EXTENDIDO ANTECEDENTES: La obtención de un Pedigree exacto es el primer paso para reconocer un paciente con cáncer colorrectal hereditario sin poliposis o síndro...
Source: Diseases of the Colon and Rectum - January 8, 2020 Category: Gastroenterology Tags: Original Contributions: Colorectal Cancer Source Type: research

Prevalence and spectrum of MLH1 , MSH2 , and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients
ConclusionPathogenic/likely pathogenicMLH1/MSH2 variants account for a substantial proportion of CRC patients with HNPCC/suspected-HNPCC in Pakistan. Our findings suggest that HNPCC/suspected-HNPCC families should be tested for these recurrent variants prior to comprehensive gene screening in this population. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - October 22, 2019 Category: Cancer & Oncology 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

The spectrum of Lynch syndrome-associated germ-line mutations in Russia.
This study aimed to investigate the spectrum of germ-line mutations in Russian LS patients. LS-related mismatch repair (MMR) genes were analyzed in 16 patients, who were forwarded to genetic testing due to strong clinical features of LS and had high-level microsatellite instability (MSI-H) in the tumor (n = 14) or unknown MSI status (n = 2). In addition, 672 consecutive colorectal cancer (CRC) cases were screened for family history; 15 patients were younger than 50 years and reported 2 or more instances of LS-related cancers in 1st- or 2nd-degree relatives. Seven of these cases demonstrated MSI-H and therefore were sub...
Source: European Journal of Medical Genetics - September 2, 2019 Category: Genetics & Stem Cells Authors: Yanus GA, Akhapkina TA, Iyevleva AG, Kornilov AV, Suspitsin EN, Kuligina ES, Ivantsov AO, Aleksakhina SN, Sokolova TN, Sokolenko AP, Togo AV, Imyanitov EN Tags: Eur J Med Genet Source Type: research

Malignant phyllodes tumor in Lynch syndrome: a case report
ConclusionsThis case highlights the importance of genetic testing with rare malignancies because the full scope of phenotypic sequelae for known hereditary syndromes has not been mapped. (Source: Journal of Medical Case Reports)
Source: Journal of Medical Case Reports - July 15, 2019 Category: General Medicine Source Type: research

Gene mapping and molecular analysis of hereditarynon-polyposis colorectal cancer (Lynch Syndrome)using systems biological approaches.
Abstract Hereditary non-polyposis colorectal cancer (HNPCC) also known as Lynch Syndrome (LS), is a hereditary form of colorectal cancer (CRC). LSis caused by mutations in the mismatch repair (MMR) genes, mostly in MLH1, MSH2, MSH6 and PMS2. Identification of these gene mutations is essential to diagnose CRC, especially at a young age to increase the survival rate. Using open target platform, we have performed genetic association studies to analyze the different genes involved in the LS and to obtain target for disease evidence. We have also analyzed upstream regulators as target molecules in the data sets...
Source: Bioinformation - July 10, 2019 Category: Bioinformatics Authors: Rasool M, Karim S, Naseer MI, Pushparaj PN, Abuzenadah A, Al-Qahtani MH Tags: Bioinformation Source Type: research

Extensive colectomy in colorectal cancer and hereditary nonpolyposis colorectal cancer – long-term results
ConclusionTotal or subtotal colectomy for colorectal cancer provides a good survival. These surgical procedures should be considered the first option for colorectal cancer in young hereditary non polyposis colorectal cancer patients. In those cases, they provide good long-term results, avoiding the risk of metachronous colorectal cancer and the surveillance is restricted only to the remaining need for rectum.ResumoIntroduçãoA sobrevida do câncer colorretal é melhor em pacientes com câncer colorretal hereditário sem polipose do que em pacientes com câncer colorretal esporádico. Mesmo em casos de câncer colorretal h...
Source: Journal of Coloproctology - June 26, 2019 Category: Gastroenterology Source Type: research