View clinical trials related to HNPCC.
Filter by:Early detection testing is recommended for individuals at elevated risk for the development of Pancreatic Cancer. This Protocol will define sufficiently elevated risk as either equal to or greater than five times the general population risk, or five times the average risk (1.5%) of developing pancreatic cancer by age 70; that is a 7.5% lifetime risk. Our inclusion criteria has a strong focus on the risk for pancreatic cancer imparted by the presence of hereditary cancer genes, as well as by family history. Enrolled subjects will undergo Endoscopic Ultrasound (EUS) alternating with Magnetic Resonance Imaging (MRI), every six to 12 months, for up to 5 years.
This is an observational, case-control study evaluating the quantitative level of Septin9 in plasma pre- and post-colectomy in hereditary colorectal cancer (CRC) syndrome patients (Familial Adenomatous Polyposis (FAP), Lynch syndrome (also known as HNPCC), and Multiple Adenomatous Polyposis (MAP, also known as MYK/MYH) cases) and genetically related FAP-family members as controls and references.
A clinically applicably strategy for molecular screening for Lynch Syndrome is being implemented in Denmark. Based on sequential analysis with immunohistochemistry and methylation analysis, patients with possible hereditary colorectal cancer are identified. These patients are offered genetic risk assessment and counselling. The study hypothesis is that molecular screening will identify more patients with Lynch Syndrome than the family history alone. Prospective data collection is performed using established clinical databases.
Hereditary non-polyposis colon carcinoma (HNPCC or Lynch-Syndrome) is a rare cause of colorectal cancer caused by a gene defect in the so -called mismatch repair genes. Patients can present at young age with colorectal cancer and polyps can develop faster to malignant lesions in comparison to classical sporadic adenomas. New advanced imaging modalities with high definition images and virtual chromoendoscopy have a theoretical advantage to improve detection and to increase polyp detection. In patients with HNPCC polyp detection has been shown to be increased by classical chromo-endoscopy and by high definition endoscopy with narrow band imaging (NBI) (a virtual chromo-endoscopy modality activated by a button on the endoscope), in comparison to white light endoscopy. However, in these back-to-back studies there was no randomization for the order of imaging modality. It is therefore not clear whether really the image enhancement adds to increased polyp detection or if this is achieved by a second inspection of the mucosa. In this trial the investigators want to assess the real additional value of virtual chromo-endoscopy for polyp detection in patients with the Lynch syndrome. The investigators will use the high definition pentax system and will compare white light endoscopy to i-scan, the incorporated virtual chromo-endoscopy mode in this system.
Background: - Individuals have varying tolerances for receiving ambiguous information. However, not much is known about how ambiguous genetic testing information is received. Also, not much is known about how at-risk individuals internalize and process these results. More information is needed about how this information affects a person s life. - Lynch Syndrome is a genetic condition that carries a high risk of colon cancer and other cancers. Individuals at risk for Lynch Syndrome can have genetic testing for it. The test may confirm a diagnosis and determine actions that can be taken. Results from genetic testing can also affect the perspectives of relatives who might also be affected. However, genetic testing can also produce variants of unknown significance (VUS). VUS are data that may not provide enough information to make decisions. Researchers want to study people who have received a VUS result for genetic testing for Lynch Syndrome. Objectives: - To learn more about the impact and experience of receiving a VUS for Lynch Syndrome genetic testing. Eligibility: - Individuals at least 18 years of age who have recently had a VUS result on a genetic test for Lynch Syndrome. Design: - Participants will be asked to answer demographic questions. They will also have a 45- to 60-minute phone interview. - During the phone interview, participants will be asked a series of questions about their diagnosis. They will be asked about how they received the result and how they felt right after receiving it. They will also discuss who they have spoken to about the result.
A clinically applicably strategy for molecular screening for Lynch Syndrome has been implemented in the Region of Southern Denmark. Based on sequential analysis with immunohistochemistry and methylation analysis, patients with possible hereditary colorectal cancer are identified. These patients are offered genetic risk assessment and counselling. The study hypothesis is that molecular screening will identify more patients with Lynch Syndrome than the family history alone. Prospective data collection is performed using established clinical databases.
This study, conducted by NHGRI and the M.D. Anderson Cancer Center in Houston, Texas, will develop statistical approaches for modeling family social structure and apply these models to explore the role of family social structure in participation in genetic testing and counseling, disclosure of test results and adjustment to risk status. With recent genetic advances and the ability to test for hereditary illnesses, methods that provide an understanding of the family social structure and how that structure affects the dissemination of genetic risk information are increasingly important. The data for this study were collected by the M.D. Anderson Cancer Center as part of a study on family communication and family functioning with regard to genetic testing for hereditary nonpolyposis colon cancer (HNPCC). Relatives of people with HNPCC are more likely than the general population to get colon cancer and other types of cancer if they have inherited the gene alteration (mutation) that predisposes to the disease. This alteration can be passed on from a parent to some or all of his or her children. In the M.D. Anderson Cancer Center study, telephone interviews were conducted with 80 adult members of 16 extended families with a known gene alteration predisposing for HNPCC. These participants included people who had been diagnosed with an HNPCC syndrome cancer, their unaffected family members who were at risk of carrying a gene mutation for HNPCC, and their spouses. Participants were interviewed about their feelings, moods, coping style, and relationships with their spouse, relatives, and friends, about their willingness to have genetic testing, and about their feelings and beliefs about colon cancer, cancer screening and genetic testing and counseling. Some participants were asked about their family communication style and how the family coped with the idea of genetic testing and with the results, if testing was done. The information obtained from the current study may help facilitate family participation, communication and psychological adjustment regarding risk information about genetic diseases.