Session # 2418F‡

Tumor characteristics provide evidence for MMR variant pathogenicity

Reviewers' Choice Abstracts 

• Mutations in MMR genes are known to have a role in the development of Lynch syndrome and other cancers.
• Tumor characteristics such as MSI and IHC status are often used alone or together to evaluate risk for Lynch syndrome in clinical screening.
• We show that MSI/IHC status provide additional evidence for MMR variant pathogenicity assessment.

• Authors: Shuwei Li; Jacob Clifford; Dajun Qian; Yuan Tian; Aaron Elliott; Hsiao-Mei Lu; Mary Helen Black
• Conference: American Society of Human Genetics (ASHG)
• Date: Friday, Oct 20, 2017 12:30pm - 1:30pm