Case: Identify patients for germline testing

MV is a 77 year old woman recently diagnosed with stage IIIB colorectal cancer. At diagnosis, the patient had two synchronous right colon adenocarcinomas discovered during screening colonoscopy, and was treated surgically with right hemicolectomy. One of 24 lymph nodes was positive. She is currently undergoing adjuvant therapy. Her family history is significant for ovarian and stomach cancer in maternal relatives; she has no family history of colorectal cancer. Genomic tumor testing was ordered to determine possibility for future therapy, if needed.

Results from ActionSeq:

• Actionable variants: ARID1A P224Rfs*8, TP53 R175H
• VUSs in CDK12, GLI1, PIK3CA, RNF43, TGFBR2
• No actionable fusions detected

Should MV be referred to genetics for consideration of germline testing?

1. No, given her age there is no indication for germline testing
2. No, no variants in genes associated with hereditary forms of colon cancer were found
3. Yes, her personal and family history are sufficient to refer her.

Learn more

• Lynch syndrome fact sheet
• Identifying and managing Lynch syndrome Educational Module (CME version or CNE version)
• Interpreting results from somatic cancer panels (CME version or CNE version)
• NCCN guidelines - Genetic/Familial High-Risk Assessment: Colorectal (requires free registration to access)

About

This resource was developed as part of the Maine Cancer Genomics Initiative (MCGI) and is supported by The Harold Alfond Foundation and The Jackson Laboratory.