Prospective Multicenter Registry Study to Assess the Frequency of Lynch Syndrome Among Patients With Colorectal Cancer
Ontology highlight
ABSTRACT:
DISEASE(S): Msi,Lynch Syndrome,Hereditary Colorectal Cancer,Colorectal Cancer,Colorectal Neoplasms,Colorectal Neoplasms, Hereditary Nonpolyposis
PROVIDER: 2744784 | ecrin-mdr-crc |
REPOSITORIES: ECRIN MDR
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Project description:Heredity is a major cause of ovarian cancer. Lynch syndrome is associated with 10-12% risk of ovarian cancer, diagnosis at young age and a predilection for endometrioid and clear cell tumors. Global gene expression profiling applied to 25 Lynch syndrome-associated and 42 sporadic ovarian cancers revealed 335 differentially expressed genes and involvement of the mTOR and the MAPK/ERK pathways. The clear cell tumors had distinct expression profiles with upregulation of HER2 and apoptosis signaling pathways. The distinct expression profiles provide clues relevant for hereditary tumorigenesis and may be relevant for therapeutic strategies and refined diagnostics in ovarian cancer linked to Lynch syndrome. Ovarian cancers linked to Lynch syndrome (n=25) were compared to a matched series of sporadic ovarian cancers (n=42), selected from a population-based consecutive series in which hereditary was excluded based on family history, normal MMR protein staining and lack of mutations in BRCA1 and BRCA2.
2013-10-14 | E-GEOD-37394 | biostudies-arrayexpress
Project description:Given that there is a significant prevalence of Lynch syndrome among patients with endometrial cancer (about 5% of patients with endometrial cancer), and given there is a known risk of endometrial cancer among patients with endometrial hyperplasia (40% risk of pre-existing occult cancer with endometrial intraepithelial neoplasia), it is hypothesized that a diagnosis of endometrial hyperplasia may herald on-going risk of harboring a Lynch Syndrome gene mutation.
The purpose of this study is to examine endometrial hyperplasia specimens and compare the frequency of Lynch Syndrome gene mutations between endometrial hyperplasia and endometrial cancer subjects. This will provide a rationale and opportunity for earlier screening, and reduce colon cancer morbidity and mortality secondary to the Lynch syndrome gene.
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Project description:We aimed to provide a molecular description of Lynch syndrome-associated urothelial cancer in relation to molecular subtypes of sporadic bladder cancer. Whole genome mRNA expression profiles of 41 tumors and immunohistochemical stainings against FGFR3, KRT5, CCNB1, RB1, and CDKN2A (p16) of 37 tumors from Lynch syndrome patients were generated. Pathological data, microsatellite instability, anatomic location, and overall survival data was analyzed and compared with data from sporadic bladder cancer.
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Project description:mRNA expression from adenomas of patients with Lynch Syndrome and Familial Adenomatous Polyposis
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Project description:Heredity is a major cause of ovarian cancer. Lynch syndrome is associated with 10-12% risk of ovarian cancer, diagnosis at young age and a predilection for endometrioid and clear cell tumors. Global gene expression profiling applied to 25 Lynch syndrome-associated and 42 sporadic ovarian cancers revealed 335 differentially expressed genes and involvement of the mTOR and the MAPK/ERK pathways. The clear cell tumors had distinct expression profiles with upregulation of HER2 and apoptosis signaling pathways. The distinct expression profiles provide clues relevant for hereditary tumorigenesis and may be relevant for therapeutic strategies and refined diagnostics in ovarian cancer linked to Lynch syndrome.
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Project description:Colorectal carcinomas arising in the context of Lynch syndrome, the most common inherited cancer syndrome, typically show deficiency of the DNA MMR (mismatch repair) system. Lack of functional MMR leads to accumulation of frameshift mutations at micosatellites (microsatellite instability, MSI). High load of highly immunogenic tumor-specific frameshift neoantigens results in strong immune response against Lynch syndrome MSI cancers. Previous studies have shown systemic immune responses against frameshift neoantigens in Lynch syndrome carriers long before tumor manifestation. In the present study, we analyzed the immune profile of normal colorectal mucosa in Lynch syndrome carriers without current or previous cancer history and in Lynch syndrome colorectal cancer patients, as well as of Lynch syndrome colorectal carcinomas. The unsupervised cluster analysis of gene expression data revealed a sharp differentiation between normal mucosa from Lynch syndrome individuals with and without manifest cancer as well as between normal mucosa in general and Lynch syndrome cancer tissue. Deconvolution analysis for predicting the prevalence of immune cell population among the three groups revealed 10 out of 14 investigated populations to be significantly different between the three tissue types (FDR=10%). In contrast to normal mucosa samples, tumor tissue showed overrepresentation of immune-suppressive cell populations, such as regulatory T cells and neutrophils. Taken together with the quantitative T cell density analysis on the basis of immunohistochemical T cell stainings, our data show strong immune infiltration of the normal colorectal mucosa in Lynch syndrome individuals even in the absence of a manifest cancer.
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Project description:Lynch syndrome and Familial colorectal cancer type X (FCCTX) are clinically diagnosed using the same criteria, but genomic differences exist between these two groups and the genomic profiles share similarities with their sporadic counterparts, mismatch repair (MMR) deficient and proficient tumors, respectively. Array-based comparative genomic hybridization was performed on 91 tumors, comprising 23 Lynch syndrome (AH), 23 FCCTX (AA), 23 sporadic MMR deficient (AM) and 22 sporadic MMR proficient tumors, in order to identify differences between Lynch syndrome and FCCTX.
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Project description:Background and study aims
Lynch Syndrome (LS) is an inherited disorder that is associated with an increased risk of several cancers, particularly bowel cancer, as well as cancer of the womb. In the UK, there are only 6,000 known LS patients, however, it is estimated that there are about 176,000 undiagnosed cases. Given their high risk of bowel cancer, these patients require close monitoring, also known as ‘surveillance’, by colonoscopy - a thin tube with a camera on one end which is used to examine the bowel lining.
Despite national guidelines, the management of LS patients is not well-organised and varies significantly throughout the UK, so many of these patients are not getting the surveillance they need to protect against bowel cancer. To address this variability and to support the national guidelines, several experts in the field have called for a national registry to ensure that all LS patients have access to the timely surveillance they need.
In this study the researchers will develop an LS registry with multiple aims. It will be used to review and improve how LS patients are managed; it will provide data to better support the national screening programme's upcoming role in taking on and managing LS surveillance; and it will provide a unique resource to conduct and support future research into LS.
Who can participate:
LS patients who have previously taken part in the Cancer Prevention Project 3 (CaPP3) trial will be recruited from five sites in England over 9 months.
What does the study involve:
This small-scale initial study, known as a pilot study, will help to answer several important research questions around how LS patients are currently managed, as well as assisting with optimising the data collection process and functionality of the registry for both users and researchers.
Participation will involve completing and returning a baseline health questionnaire, followed by collecting surveillance data at the local hospital with additional data provided by NHS Digital. Data will be held on a secure and confidential database and in accordance with GDPR and Data Protection legislation. Further information will be available at the study website (https://lynchregistry.org.uk/) once the study is open to recruitment.
What are the possible risks and benefits of participating?
There are no risks of physical harm associated with taking part in this study. However, as the registry will be storing some personal information, there is a risk of a breach of confidentiality. The risks stemming from a data breach include; patient distress or loss of patient confidence and fraud by way of identity theft. To minimise the possibility of this occurring, several policies and procedures are in place to help protect participant information and to ensure that any personal information that could identify individuals remains strictly confidential. A data security policy is in place detailing precautions for safe operation such as encryption, access restrictions, security audits and secure software development practices. In the event that there is a breach of confidentiality, all participants will be notified.
There may not be an immediate direct benefit from joining the registry pilot study, but the information we get might help improve the treatment of people with Lynch Syndrome. As the national registry eventually becomes more established Lynch syndrome patients will benefit by being offered regular screening examinations, in line with the national guidelines. Additionally, the national registry will help to raise awareness of Lynch syndrome amongst clinical teams and promote future research projects and collaborations.
Where is the study run from?
Imperial College London (UK)
When is the study starting and how long is it expected to run for?
April 2020 to March 2024
Who is funding the study?
1. Cancer Research UK
2. 40tude (UK)
Who is the main contact?
Prof. Amanda Cross
amanda.cross@imperial.ac.uk
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Project description:Faecal Microbiota Characterization in Lynch Syndrome (LS) Patients With or Without Colorectal Neoplasia ( AAS-Lynch-Microbiote)
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Project description:The goal of this study is to create a registry of information about women who have or are at risk for Lynch syndrome, in order to study gynecologic cancer risks.
This is an investigational study. Up to 1000 patients will take part in this study. All patients will be enrolled at MD Anderson.
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