Deep intronic MSH2 variant confirms Muir-Torre subtype of Lynch syndrome

Key Points

• The deep intronic MSH2 variant confirms the presence of Muir-Torre syndrome within Lynch syndrome families.
• This finding emphasizes the importance of genetic testing when Muir-Torre characteristics are observed.
• Biological implications suggest further investigation into MSH2's role in cancer risk.
• Data supports the need for awareness among clinicians regarding intronic variants in Muir-Torre syndrome.