Germline Multigene Panel Testing in Women With Invasive Lobular Cancer
Genetic testing reveals that lobular breast cancer patients with mutations in key genes face much higher recurrence risk, informing closer monitoring.
This prospective Italian cohort enrolled 414 women with primary invasive lobular carcinoma for 113-gene germline panel testing, finding 11.1% carried pathogenic variants with the subset in moderate-to-high risk genes (BRCA1/2, CDH1, PALB2, ATM, etc.) facing nearly 4-fold higher early relapse risk. Polygenic risk scores added no prognostic value, suggesting multigene panel testing—not PRS—should guide genetic counseling, surveillance, and therapy selection in ILC.
What the study was
- Study design
- prospective_longitudinal_cohort
- Category
- precision_oncology
- Maturity
- Validated
- Journal
- JAMA Netw Open
Why it surfaced
First prospective germline panel study specifically in ILC, an undercharacterized breast cancer subtype; 4-fold higher relapse risk in PV carriers directly informs clinical management; JAMA Network Open quality; fills a critical gap in precision oncology for lobular disease.
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