Lynch syndrome-associated endometrial cancer patient with a rare novel germline likely pathogenic variant of MSH2 gene: A case report

• Main Authors: L. Zumstein (Author), V. Tuninetti (Author), M. Vaira (Author), D. Siatis (Author), F. Palermo (Author), M. Petracchini (Author), G. Scotto (Author), M. Turinetto (Author), R. Piva (Author), B. Pasini (Author), G. Valabrega (Author)
• Format: Book
• Published: Elsevier, 2023-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

The Lynch syndrome (LS) is an autosomal dominant condition usually characterized by germline pathogenic variants in DNA mismatch repair (MMR) genes. Despite the guidelines now available, determining the pathogenicity of rare variants remains challenging, as the clinical significance of a genetic var...