Germline MLH1 and MSH6 mutations from two Lynch syndrome families identified in a patient with early-onset of endometrial cancer: A case report

• Main Authors: Yi-Ching Huang (Author), Peng-Chan Lin (Author), Pei-Ying Wu (Author), Nai-Syuan Chen (Author), Meng-Ru Shen (Author), Yu-Min Yeh (Author), Ya-Min Cheng (Author)
• Format: Book
• Published: Elsevier, 2024-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Introduction: Lynch syndrome is caused by a germline mutation in mismatch repair (MMR) genes, leading to the loss of expression of MMR heterodimers, either MLH1/PMS2 or MSH2/MSH6, or isolated loss of PMS2 or MSH6. Concurrent loss of both heterodimers is uncommon, and patients carrying pathogenic var...