Broadening Cancer Screening with WES

Area of Science:

• Genomics
• Oncology
• Genetic Syndromes

Background:

• Hereditary cancer syndromes, including hereditary breast and ovarian cancer syndrome and Lynch syndrome, significantly increase cancer risk.
• Accurate identification of at-risk individuals is crucial for implementing timely preventive strategies.

Purpose of the Study:

• To evaluate the utility of whole-exome sequencing in identifying individuals with hereditary breast and ovarian cancer syndrome and Lynch syndrome.
• To assess the proportion of identified individuals who would not qualify for current preventive screening guidelines.

Main Methods:

• Retrospective analysis of data from the Mayo Clinic's Tapestry trial.
• Utilized whole-exome sequencing to analyze genetic data.

Main Results:

• Whole-exome sequencing demonstrated effectiveness in identifying individuals with hereditary breast and ovarian cancer syndrome and Lynch syndrome.
• Approximately 40% of individuals identified with these syndromes did not meet National Comprehensive Cancer Network guidelines for preventive screening.

Conclusions:

• Whole-exome sequencing is a valuable tool for diagnosing hereditary cancer syndromes.
• Current screening guidelines may exclude a significant number of individuals at high risk for hereditary cancers, highlighting a potential gap in care.