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Cancer Gene Mutation clinical trials

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NCT ID: NCT06008392 Recruiting - Cancer Clinical Trials

INTERogating Cancer for Etiology, Prevention and Therapy Navigation

INTERCEPTioN
Start date: October 12, 2023
Phase:
Study type: Observational [Patient Registry]

The purpose of this study is to evaluate the integration of cancer pan-genetic testing into a cancer clinical practice and understand both its use and effect in "real world" practice conditions.

NCT ID: NCT05126290 Recruiting - Breast Cancer Clinical Trials

CTNNA1 Familial Expansion Study

CAFÉ
Start date: March 16, 2021
Phase:
Study type: Observational [Patient Registry]

The goal of the CAFÉ Study is to determine the cancer risks associated with germline CTNNA1 loss-of-function variants.

NCT ID: NCT04759352 Recruiting - Clinical trials for Cancer Gene Mutation

Telephone Versus In-person Post-test Cancer Genetic Counseling

GEO-STAR
Start date: May 15, 2021
Phase: N/A
Study type: Interventional

The purpose of the GEO-STAR randomized non-inferiority trial is to compare the outcome of post-test telephone cancer genetic counseling with standard in-person cancer genetic counseling. We hypothesize that telephone counseling is non-inferior by outcome if compared to standard in-person counseling.

NCT ID: NCT04516083 Recruiting - Endometrial Cancer Clinical Trials

Lynch Syndrome Can be Diagnosed Just From Somatic Mismatch Repair Mutation

Start date: December 21, 2019
Phase:
Study type: Observational [Patient Registry]

The objective of the study is the provide proof of high correlation between somatic and germline mismatch repair instability. This correlation is specifically researched in an area where patients have less access to cancer education and genetic testing for various reasons such as lack of insurance and general accessibility. The study concentrates on early diagnosis of Lynch syndrome. Lynch syndrome is usually diagnosed from a blood test resulting in a mutation of one of the mismatch repair genes. Those are MLH1, MSH2, MSH 6, PMS2. A mutation in one of these genes creates a mismatch repair instability,hence higher incidence of cancers in specific organ groups. Amongst these organs are the Uterus, Ovaries, Upper genitourinary system, Pancreas and GI system. The most common endometrial carcinoma which is found in Lynch syndrome is of endometrioid histology. Most patients with known germline mismatch repair instability, have the same somatic mutation. Our study is looking into correlating somatic mutation to germline mutation. By doing so, patients diagnosed with somatic mismatch repair instability will be also diagnosed with lynch syndrome without germline genetic testing. Screening programs will be utilized earlier and preventive procedures offered. Due to less access to educational programs, genetic counseling and testing in underserved areas, patients are sometimes lost to follow up. Our study seeks to prove high correlation between somatic and germline mutations and by doing so, patient will be diagnosed with Lynch syndrome straight after endometrial cancer staging. As a result, increased compliance will be expected and patients will be offered the recommended preventative surgeries and screening protocols.