Evaluating Exome Sequencing to Identify Genetic Causes of Early-Onset Cancer After Negative Gene Panel Results

What this Trial Is About

Researchers are studying genetic factors linked to early-onset cancer, focusing on patients with either inherited or spontaneous genetic alterations that may increase cancer risk. This study aims to evaluate a new genetic testing method called high-throughput exome sequencing SHD-E after standard gene panel tests fail to identify a genetic cause. The goal is to see if SHD-E can find additional genetic changes that contribute to cancer predisposition in patients diagnosed at a young age. Participants will undergo one genetic consultation and provide a blood sample for analysis. This approach is being assessed for patients diagnosed with cancer before age 40 or before age 30 for breast cancer who had negative results from routine gene panel tests. The study may also include tumor samples and, when necessary, testing of parents or affected relatives to support genetic analysis. During the study, participants will have their genetic mutations evaluated to identify new cancer risk factors. The study involves reviewing the genetic data collected from blood tests and possibly tumor samples. Participants must consent to join and be affiliated with a social security scheme. The primary outcome measured is the identification of genetic mutations that may explain cancer predisposition in these early-onset cases.

EXOME Analysis Position in the Strategy of Genetic Predisposition Factors Identification in Early-onset Cancer